Incidental Mutation 'R4910:Ltbp1'
ID |
379460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ltbp1
|
Ensembl Gene |
ENSMUSG00000001870 |
Gene Name |
latent transforming growth factor beta binding protein 1 |
Synonyms |
9430031G15Rik, Ltbp1L, b2b1000Clo, LTBP-1 |
MMRRC Submission |
042512-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4910 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
75312563-75699507 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75634287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 855
(S855P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001927]
[ENSMUST00000112514]
[ENSMUST00000112516]
[ENSMUST00000135447]
|
AlphaFold |
Q8CG19 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001927
AA Change: S1226P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000001927 Gene: ENSMUSG00000001870 AA Change: S1226P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
low complexity region
|
149 |
158 |
N/A |
INTRINSIC |
EGF
|
184 |
213 |
9.27e-1 |
SMART |
EGF
|
394 |
423 |
2.23e-3 |
SMART |
Pfam:TB
|
559 |
601 |
2.4e-9 |
PFAM |
EGF_CA
|
618 |
658 |
9.39e-11 |
SMART |
Pfam:TB
|
680 |
720 |
1e-18 |
PFAM |
low complexity region
|
839 |
849 |
N/A |
INTRINSIC |
EGF_CA
|
865 |
906 |
5.83e-7 |
SMART |
EGF_CA
|
907 |
948 |
6.39e-13 |
SMART |
EGF_CA
|
949 |
989 |
4.25e-9 |
SMART |
EGF_CA
|
990 |
1029 |
2.44e-9 |
SMART |
EGF_CA
|
1030 |
1070 |
5.87e-12 |
SMART |
EGF_CA
|
1071 |
1111 |
3.61e-12 |
SMART |
EGF_CA
|
1112 |
1152 |
1.57e-12 |
SMART |
EGF_CA
|
1153 |
1193 |
1.75e-10 |
SMART |
EGF_CA
|
1194 |
1235 |
6.74e-12 |
SMART |
EGF_CA
|
1236 |
1277 |
3.22e-9 |
SMART |
EGF
|
1281 |
1320 |
2.16e1 |
SMART |
Pfam:TB
|
1349 |
1391 |
5.6e-17 |
PFAM |
EGF
|
1418 |
1457 |
1.14e0 |
SMART |
EGF_CA
|
1458 |
1498 |
2.68e-6 |
SMART |
Pfam:TB
|
1526 |
1567 |
4.2e-15 |
PFAM |
EGF
|
1615 |
1652 |
1e-5 |
SMART |
EGF_CA
|
1653 |
1697 |
5.11e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112514
AA Change: S855P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108133 Gene: ENSMUSG00000001870 AA Change: S855P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF
|
76 |
105 |
2.23e-3 |
SMART |
Pfam:TB
|
240 |
283 |
9.5e-13 |
PFAM |
EGF_CA
|
300 |
340 |
9.39e-11 |
SMART |
Pfam:TB
|
361 |
400 |
3.1e-17 |
PFAM |
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
EGF_CA
|
494 |
535 |
5.83e-7 |
SMART |
EGF_CA
|
536 |
577 |
6.39e-13 |
SMART |
EGF_CA
|
578 |
618 |
4.25e-9 |
SMART |
EGF_CA
|
619 |
658 |
2.44e-9 |
SMART |
EGF_CA
|
659 |
699 |
5.87e-12 |
SMART |
EGF_CA
|
700 |
740 |
3.61e-12 |
SMART |
EGF_CA
|
741 |
781 |
1.57e-12 |
SMART |
EGF_CA
|
782 |
822 |
1.75e-10 |
SMART |
EGF_CA
|
823 |
864 |
6.74e-12 |
SMART |
EGF_CA
|
865 |
906 |
3.22e-9 |
SMART |
EGF
|
910 |
949 |
2.16e1 |
SMART |
Pfam:TB
|
977 |
1020 |
4.3e-20 |
PFAM |
EGF
|
1047 |
1086 |
1.14e0 |
SMART |
EGF_CA
|
1087 |
1127 |
2.68e-6 |
SMART |
Pfam:TB
|
1154 |
1196 |
1.3e-17 |
PFAM |
EGF
|
1244 |
1281 |
1e-5 |
SMART |
EGF_CA
|
1282 |
1326 |
5.11e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112516
AA Change: S908P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108135 Gene: ENSMUSG00000001870 AA Change: S908P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF
|
76 |
105 |
2.23e-3 |
SMART |
Pfam:TB
|
240 |
283 |
9.9e-13 |
PFAM |
EGF_CA
|
300 |
340 |
9.39e-11 |
SMART |
Pfam:TB
|
361 |
402 |
7.6e-20 |
PFAM |
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
EGF_CA
|
547 |
588 |
5.83e-7 |
SMART |
EGF_CA
|
589 |
630 |
6.39e-13 |
SMART |
EGF_CA
|
631 |
671 |
4.25e-9 |
SMART |
EGF_CA
|
672 |
711 |
2.44e-9 |
SMART |
EGF_CA
|
712 |
752 |
5.87e-12 |
SMART |
EGF_CA
|
753 |
793 |
3.61e-12 |
SMART |
EGF_CA
|
794 |
834 |
1.57e-12 |
SMART |
EGF_CA
|
835 |
875 |
1.75e-10 |
SMART |
EGF_CA
|
876 |
917 |
6.74e-12 |
SMART |
EGF_CA
|
918 |
959 |
3.22e-9 |
SMART |
EGF
|
963 |
1002 |
2.16e1 |
SMART |
Pfam:TB
|
1030 |
1073 |
4.5e-20 |
PFAM |
EGF
|
1100 |
1139 |
1.14e0 |
SMART |
EGF_CA
|
1140 |
1180 |
2.68e-6 |
SMART |
Pfam:TB
|
1207 |
1249 |
1.4e-17 |
PFAM |
EGF
|
1297 |
1334 |
1e-5 |
SMART |
EGF_CA
|
1335 |
1379 |
5.11e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135447
AA Change: S908P
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116890 Gene: ENSMUSG00000001870 AA Change: S908P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EGF
|
76 |
105 |
1.1e-5 |
SMART |
Pfam:TB
|
240 |
283 |
4.3e-10 |
PFAM |
EGF_CA
|
300 |
340 |
4.4e-13 |
SMART |
Pfam:TB
|
361 |
402 |
3.3e-17 |
PFAM |
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
EGF_CA
|
547 |
588 |
2.9e-9 |
SMART |
EGF_CA
|
589 |
630 |
3e-15 |
SMART |
EGF_CA
|
631 |
671 |
2.1e-11 |
SMART |
EGF_CA
|
672 |
711 |
1.2e-11 |
SMART |
EGF_CA
|
712 |
752 |
2.8e-14 |
SMART |
EGF_CA
|
753 |
793 |
1.8e-14 |
SMART |
EGF_CA
|
794 |
834 |
7.5e-15 |
SMART |
EGF_CA
|
835 |
875 |
8.4e-13 |
SMART |
EGF_CA
|
876 |
917 |
3.2e-14 |
SMART |
EGF_CA
|
918 |
959 |
1.6e-11 |
SMART |
|
Meta Mutation Damage Score |
0.1057 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.6%
- 20x: 86.1%
|
Validation Efficiency |
95% (144/151) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 123 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,435 (GRCm39) |
|
probably null |
Het |
Adam3 |
T |
A |
8: 25,184,321 (GRCm39) |
I560L |
probably benign |
Het |
Agxt |
T |
C |
1: 93,063,436 (GRCm39) |
F113L |
probably benign |
Het |
Aknad1 |
T |
A |
3: 108,688,568 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
A |
18: 65,399,357 (GRCm39) |
K2074* |
probably null |
Het |
Apob |
A |
G |
12: 8,057,848 (GRCm39) |
Y2077C |
probably damaging |
Het |
Arhgap17 |
A |
T |
7: 122,907,600 (GRCm39) |
L254Q |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,126,690 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,249,762 (GRCm39) |
D171G |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,392,478 (GRCm39) |
S2003T |
probably damaging |
Het |
Armc5 |
T |
G |
7: 127,839,900 (GRCm39) |
L406R |
possibly damaging |
Het |
Arsb |
T |
C |
13: 93,908,485 (GRCm39) |
V67A |
probably benign |
Het |
Aspm |
A |
G |
1: 139,419,281 (GRCm39) |
Y2982C |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 37,052,348 (GRCm39) |
T3016K |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,774,307 (GRCm39) |
L487P |
probably damaging |
Het |
Card11 |
C |
G |
5: 140,860,169 (GRCm39) |
D1063H |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,787,123 (GRCm39) |
T615M |
probably damaging |
Het |
Cd101 |
T |
A |
3: 100,901,205 (GRCm39) |
T960S |
probably benign |
Het |
Cdca7l |
C |
A |
12: 117,837,520 (GRCm39) |
S191* |
probably null |
Het |
Cemip |
A |
T |
7: 83,646,619 (GRCm39) |
I143N |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,609,829 (GRCm39) |
E161K |
possibly damaging |
Het |
Cfhr4 |
T |
G |
1: 139,702,301 (GRCm39) |
D61A |
probably damaging |
Het |
Chrm2 |
A |
T |
6: 36,501,168 (GRCm39) |
T342S |
probably benign |
Het |
Cib2 |
A |
G |
9: 54,457,163 (GRCm39) |
F34L |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,459,859 (GRCm39) |
I1836N |
probably benign |
Het |
Col4a3 |
C |
A |
1: 82,650,400 (GRCm39) |
P552Q |
unknown |
Het |
Cp |
T |
A |
3: 20,043,388 (GRCm39) |
|
probably benign |
Het |
Cul3 |
C |
T |
1: 80,267,806 (GRCm39) |
V112I |
probably benign |
Het |
Dcdc5 |
A |
G |
2: 106,195,895 (GRCm39) |
|
noncoding transcript |
Het |
Disp1 |
A |
T |
1: 182,917,027 (GRCm39) |
V133E |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,921,751 (GRCm39) |
D30G |
probably damaging |
Het |
Dop1a |
C |
T |
9: 86,374,114 (GRCm39) |
T191I |
probably damaging |
Het |
Enam |
T |
G |
5: 88,650,173 (GRCm39) |
S561A |
probably benign |
Het |
Fbxw8 |
G |
T |
5: 118,263,092 (GRCm39) |
|
probably null |
Het |
Filip1 |
A |
G |
9: 79,725,214 (GRCm39) |
V1135A |
probably benign |
Het |
Galnt6 |
T |
C |
15: 100,614,059 (GRCm39) |
T81A |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,657,814 (GRCm39) |
K472E |
probably benign |
Het |
Gm10568 |
T |
G |
1: 3,751,164 (GRCm39) |
|
noncoding transcript |
Het |
Gm4953 |
T |
A |
1: 158,995,929 (GRCm39) |
|
noncoding transcript |
Het |
Gm6871 |
T |
A |
7: 41,223,016 (GRCm39) |
H24L |
probably benign |
Het |
Gpr155 |
G |
A |
2: 73,197,882 (GRCm39) |
Q413* |
probably null |
Het |
Grhl2 |
A |
G |
15: 37,291,920 (GRCm39) |
|
probably null |
Het |
Ighv1-31 |
G |
C |
12: 114,793,128 (GRCm39) |
S36* |
probably null |
Het |
Ighv8-5 |
A |
G |
12: 115,031,462 (GRCm39) |
S26P |
probably damaging |
Het |
Igkv17-134 |
A |
C |
6: 67,697,910 (GRCm39) |
|
probably benign |
Het |
Igkv5-48 |
A |
C |
6: 69,703,833 (GRCm39) |
L24R |
probably damaging |
Het |
Isg20l2 |
T |
A |
3: 87,846,570 (GRCm39) |
V340E |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,884 (GRCm39) |
Y447C |
probably damaging |
Het |
Mgat4e |
A |
T |
1: 134,469,602 (GRCm39) |
N147K |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,842,415 (GRCm39) |
L315P |
possibly damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,076,292 (GRCm39) |
V322A |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,567,152 (GRCm39) |
|
probably null |
Het |
Mybpc1 |
T |
A |
10: 88,391,586 (GRCm39) |
K304* |
probably null |
Het |
Nlrp14 |
A |
C |
7: 106,785,790 (GRCm39) |
D622A |
possibly damaging |
Het |
Nlrp1b |
T |
A |
11: 71,108,103 (GRCm39) |
H466L |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,112,336 (GRCm39) |
|
noncoding transcript |
Het |
Nrxn3 |
A |
G |
12: 89,227,130 (GRCm39) |
E628G |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,653,870 (GRCm39) |
R530G |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,845,007 (GRCm39) |
S21P |
unknown |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,934 (GRCm39) |
I202V |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,348,768 (GRCm39) |
T301A |
probably benign |
Het |
Or4f14b |
A |
T |
2: 111,775,423 (GRCm39) |
I126K |
possibly damaging |
Het |
Or52e8 |
G |
A |
7: 104,624,686 (GRCm39) |
P169S |
possibly damaging |
Het |
Or5k1 |
T |
A |
16: 58,617,805 (GRCm39) |
T135S |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,676 (GRCm39) |
T85A |
probably damaging |
Het |
Or8c11 |
T |
A |
9: 38,290,038 (GRCm39) |
V287E |
probably null |
Het |
Otog |
A |
T |
7: 45,913,486 (GRCm39) |
Y773F |
probably damaging |
Het |
Otog |
A |
T |
7: 45,947,958 (GRCm39) |
I2320F |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,715,378 (GRCm39) |
S433G |
probably benign |
Het |
Pcdhb17 |
A |
T |
18: 37,618,212 (GRCm39) |
M1L |
possibly damaging |
Het |
Pde7b |
T |
A |
10: 20,600,480 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,820,724 (GRCm39) |
V207A |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,791,661 (GRCm39) |
V1116E |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,360 (GRCm39) |
Y497F |
possibly damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,812,013 (GRCm39) |
N256S |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,746,020 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,764,585 (GRCm39) |
T732A |
probably benign |
Het |
Prg4 |
T |
A |
1: 150,331,574 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
C |
6: 137,345,336 (GRCm39) |
V114A |
probably damaging |
Het |
Pyurf |
A |
G |
6: 57,668,933 (GRCm39) |
S20P |
unknown |
Het |
Rasgrf1 |
A |
G |
9: 89,858,805 (GRCm39) |
T488A |
probably benign |
Het |
Rassf8 |
A |
T |
6: 145,761,006 (GRCm39) |
K111* |
probably null |
Het |
Reps1 |
A |
T |
10: 17,983,436 (GRCm39) |
E426D |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,730,666 (GRCm39) |
K982R |
probably damaging |
Het |
Rps23 |
T |
C |
13: 91,071,871 (GRCm39) |
|
probably null |
Het |
Scamp4 |
T |
A |
10: 80,445,505 (GRCm39) |
V56E |
probably damaging |
Het |
Serpina1c |
C |
T |
12: 103,861,291 (GRCm39) |
V408I |
probably benign |
Het |
Sigirr |
A |
G |
7: 140,673,701 (GRCm39) |
W49R |
probably damaging |
Het |
Slc17a6 |
A |
T |
7: 51,308,489 (GRCm39) |
H271L |
possibly damaging |
Het |
Slc7a5 |
G |
T |
8: 122,611,861 (GRCm39) |
T389K |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,191,999 (GRCm39) |
H945L |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,523,549 (GRCm39) |
S662P |
probably damaging |
Het |
Snta1 |
C |
A |
2: 154,218,938 (GRCm39) |
E466* |
probably null |
Het |
Sowaha |
A |
G |
11: 53,369,272 (GRCm39) |
L488P |
probably damaging |
Het |
Spata17 |
C |
A |
1: 186,926,208 (GRCm39) |
V41F |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,045,429 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
A |
17: 24,034,362 (GRCm39) |
|
probably benign |
Het |
Stard13 |
T |
C |
5: 150,985,992 (GRCm39) |
N388S |
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,630 (GRCm39) |
K59E |
probably damaging |
Het |
Sval1 |
A |
G |
6: 41,932,378 (GRCm39) |
N76S |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,096,276 (GRCm39) |
H1448R |
possibly damaging |
Het |
Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
Sytl5 |
C |
T |
X: 9,781,841 (GRCm39) |
P181L |
possibly damaging |
Het |
Tbkbp1 |
G |
A |
11: 97,029,956 (GRCm39) |
S400L |
probably benign |
Het |
Tesc |
G |
T |
5: 118,194,531 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,993,475 (GRCm39) |
G33R |
probably damaging |
Het |
Tlr11 |
C |
A |
14: 50,600,346 (GRCm39) |
F777L |
probably benign |
Het |
Tmem156 |
A |
G |
5: 65,248,805 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
G |
11: 60,643,204 (GRCm39) |
|
probably benign |
Het |
Tpcn1 |
A |
G |
5: 120,694,584 (GRCm39) |
W162R |
probably damaging |
Het |
Tpd52l2 |
A |
T |
2: 181,157,005 (GRCm39) |
|
probably benign |
Het |
Trim80 |
G |
A |
11: 115,337,281 (GRCm39) |
G381D |
probably damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
Vmn2r56 |
T |
A |
7: 12,449,462 (GRCm39) |
I259F |
possibly damaging |
Het |
Vmn2r59 |
T |
C |
7: 41,693,077 (GRCm39) |
T508A |
probably benign |
Het |
Wdr73 |
A |
G |
7: 80,541,456 (GRCm39) |
V362A |
probably damaging |
Het |
Zdhhc21 |
G |
T |
4: 82,738,568 (GRCm39) |
T207K |
possibly damaging |
Het |
Zfp120 |
T |
A |
2: 149,959,872 (GRCm39) |
Q150L |
probably damaging |
Het |
Zfp212 |
C |
A |
6: 47,908,433 (GRCm39) |
Q471K |
possibly damaging |
Het |
Zfp804b |
C |
T |
5: 6,820,540 (GRCm39) |
G841D |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,878,724 (GRCm39) |
M1884K |
probably damaging |
Het |
Znfx1 |
G |
T |
2: 166,879,402 (GRCm39) |
A1658D |
probably benign |
Het |
|
Other mutations in Ltbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Ltbp1
|
APN |
17 |
75,532,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00156:Ltbp1
|
APN |
17 |
75,692,155 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00161:Ltbp1
|
APN |
17 |
75,617,147 (GRCm39) |
splice site |
probably benign |
|
IGL00771:Ltbp1
|
APN |
17 |
75,669,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00822:Ltbp1
|
APN |
17 |
75,458,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01760:Ltbp1
|
APN |
17 |
75,534,145 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01796:Ltbp1
|
APN |
17 |
75,534,240 (GRCm39) |
splice site |
probably benign |
|
IGL01826:Ltbp1
|
APN |
17 |
75,599,835 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02372:Ltbp1
|
APN |
17 |
75,559,401 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02792:Ltbp1
|
APN |
17 |
75,589,989 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02862:Ltbp1
|
APN |
17 |
75,697,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03095:Ltbp1
|
APN |
17 |
75,589,413 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03345:Ltbp1
|
APN |
17 |
75,373,154 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03404:Ltbp1
|
APN |
17 |
75,532,301 (GRCm39) |
missense |
probably damaging |
0.97 |
Hiphop
|
UTSW |
17 |
75,666,452 (GRCm39) |
missense |
probably damaging |
0.99 |
Pygea
|
UTSW |
17 |
75,634,223 (GRCm39) |
nonsense |
probably null |
|
Twist
|
UTSW |
17 |
75,617,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R0010:Ltbp1
|
UTSW |
17 |
75,670,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Ltbp1
|
UTSW |
17 |
75,670,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Ltbp1
|
UTSW |
17 |
75,671,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Ltbp1
|
UTSW |
17 |
75,671,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R0033:Ltbp1
|
UTSW |
17 |
75,583,504 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0033:Ltbp1
|
UTSW |
17 |
75,583,504 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0034:Ltbp1
|
UTSW |
17 |
75,354,563 (GRCm39) |
intron |
probably benign |
|
R0068:Ltbp1
|
UTSW |
17 |
75,666,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Ltbp1
|
UTSW |
17 |
75,666,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0467:Ltbp1
|
UTSW |
17 |
75,589,424 (GRCm39) |
critical splice donor site |
probably null |
|
R0554:Ltbp1
|
UTSW |
17 |
75,532,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R0584:Ltbp1
|
UTSW |
17 |
75,670,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Ltbp1
|
UTSW |
17 |
75,559,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R0991:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1084:Ltbp1
|
UTSW |
17 |
75,666,420 (GRCm39) |
nonsense |
probably null |
|
R1114:Ltbp1
|
UTSW |
17 |
75,667,770 (GRCm39) |
missense |
probably benign |
|
R1177:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1179:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1245:Ltbp1
|
UTSW |
17 |
75,634,189 (GRCm39) |
splice site |
probably benign |
|
R1246:Ltbp1
|
UTSW |
17 |
75,692,156 (GRCm39) |
nonsense |
probably null |
|
R1258:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1259:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1260:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1262:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1265:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1267:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1269:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1272:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1411:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1579:Ltbp1
|
UTSW |
17 |
75,559,362 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1705:Ltbp1
|
UTSW |
17 |
75,692,196 (GRCm39) |
splice site |
probably null |
|
R1716:Ltbp1
|
UTSW |
17 |
75,622,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1815:Ltbp1
|
UTSW |
17 |
75,559,375 (GRCm39) |
missense |
probably benign |
0.00 |
R1932:Ltbp1
|
UTSW |
17 |
75,620,029 (GRCm39) |
missense |
probably benign |
0.01 |
R1951:Ltbp1
|
UTSW |
17 |
75,458,372 (GRCm39) |
missense |
probably benign |
0.00 |
R2044:Ltbp1
|
UTSW |
17 |
75,583,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2120:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2121:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2122:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2171:Ltbp1
|
UTSW |
17 |
75,598,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R2237:Ltbp1
|
UTSW |
17 |
75,617,158 (GRCm39) |
missense |
probably benign |
0.31 |
R2655:Ltbp1
|
UTSW |
17 |
75,312,978 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2941:Ltbp1
|
UTSW |
17 |
75,486,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R3177:Ltbp1
|
UTSW |
17 |
75,666,273 (GRCm39) |
splice site |
probably null |
|
R3177:Ltbp1
|
UTSW |
17 |
75,583,475 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3277:Ltbp1
|
UTSW |
17 |
75,666,273 (GRCm39) |
splice site |
probably null |
|
R3277:Ltbp1
|
UTSW |
17 |
75,583,475 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3797:Ltbp1
|
UTSW |
17 |
75,669,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Ltbp1
|
UTSW |
17 |
75,666,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3897:Ltbp1
|
UTSW |
17 |
75,581,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4002:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
probably benign |
0.09 |
R4057:Ltbp1
|
UTSW |
17 |
75,617,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Ltbp1
|
UTSW |
17 |
75,598,362 (GRCm39) |
nonsense |
probably null |
|
R4375:Ltbp1
|
UTSW |
17 |
75,619,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4458:Ltbp1
|
UTSW |
17 |
75,583,502 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4519:Ltbp1
|
UTSW |
17 |
75,671,492 (GRCm39) |
missense |
probably benign |
0.14 |
R4529:Ltbp1
|
UTSW |
17 |
75,458,355 (GRCm39) |
missense |
probably benign |
0.21 |
R4614:Ltbp1
|
UTSW |
17 |
75,596,989 (GRCm39) |
intron |
probably benign |
|
R4724:Ltbp1
|
UTSW |
17 |
75,620,003 (GRCm39) |
missense |
probably damaging |
0.99 |
R4756:Ltbp1
|
UTSW |
17 |
75,532,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Ltbp1
|
UTSW |
17 |
75,312,899 (GRCm39) |
missense |
probably benign |
|
R4976:Ltbp1
|
UTSW |
17 |
75,628,090 (GRCm39) |
critical splice donor site |
probably null |
|
R5011:Ltbp1
|
UTSW |
17 |
75,373,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R5047:Ltbp1
|
UTSW |
17 |
75,599,881 (GRCm39) |
splice site |
probably benign |
|
R5259:Ltbp1
|
UTSW |
17 |
75,670,357 (GRCm39) |
missense |
probably benign |
0.03 |
R5438:Ltbp1
|
UTSW |
17 |
75,598,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R5583:Ltbp1
|
UTSW |
17 |
75,598,325 (GRCm39) |
missense |
probably benign |
0.00 |
R5757:Ltbp1
|
UTSW |
17 |
75,580,944 (GRCm39) |
splice site |
probably null |
|
R5950:Ltbp1
|
UTSW |
17 |
75,580,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Ltbp1
|
UTSW |
17 |
75,597,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Ltbp1
|
UTSW |
17 |
75,312,984 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6383:Ltbp1
|
UTSW |
17 |
75,666,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R6400:Ltbp1
|
UTSW |
17 |
75,458,397 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6861:Ltbp1
|
UTSW |
17 |
75,534,187 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6880:Ltbp1
|
UTSW |
17 |
75,628,044 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7168:Ltbp1
|
UTSW |
17 |
75,598,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R7198:Ltbp1
|
UTSW |
17 |
75,533,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7260:Ltbp1
|
UTSW |
17 |
75,373,139 (GRCm39) |
missense |
probably benign |
0.01 |
R7262:Ltbp1
|
UTSW |
17 |
75,671,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Ltbp1
|
UTSW |
17 |
75,634,223 (GRCm39) |
nonsense |
probably null |
|
R7443:Ltbp1
|
UTSW |
17 |
75,671,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7510:Ltbp1
|
UTSW |
17 |
75,659,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7676:Ltbp1
|
UTSW |
17 |
75,598,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7717:Ltbp1
|
UTSW |
17 |
75,597,073 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7720:Ltbp1
|
UTSW |
17 |
75,692,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R7799:Ltbp1
|
UTSW |
17 |
75,559,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R7944:Ltbp1
|
UTSW |
17 |
75,697,546 (GRCm39) |
makesense |
probably null |
|
R7945:Ltbp1
|
UTSW |
17 |
75,697,546 (GRCm39) |
makesense |
probably null |
|
R7976:Ltbp1
|
UTSW |
17 |
75,670,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8256:Ltbp1
|
UTSW |
17 |
75,622,236 (GRCm39) |
intron |
probably benign |
|
R8295:Ltbp1
|
UTSW |
17 |
75,486,184 (GRCm39) |
missense |
probably benign |
0.10 |
R8423:Ltbp1
|
UTSW |
17 |
75,599,852 (GRCm39) |
missense |
probably benign |
|
R8462:Ltbp1
|
UTSW |
17 |
75,620,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Ltbp1
|
UTSW |
17 |
75,655,753 (GRCm39) |
missense |
probably benign |
0.00 |
R8742:Ltbp1
|
UTSW |
17 |
75,617,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R8766:Ltbp1
|
UTSW |
17 |
75,603,250 (GRCm39) |
nonsense |
probably null |
|
R8873:Ltbp1
|
UTSW |
17 |
75,486,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Ltbp1
|
UTSW |
17 |
75,486,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R9100:Ltbp1
|
UTSW |
17 |
75,622,103 (GRCm39) |
missense |
probably damaging |
0.96 |
R9100:Ltbp1
|
UTSW |
17 |
75,622,102 (GRCm39) |
missense |
probably benign |
0.10 |
R9141:Ltbp1
|
UTSW |
17 |
75,598,309 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9204:Ltbp1
|
UTSW |
17 |
75,670,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R9292:Ltbp1
|
UTSW |
17 |
75,583,436 (GRCm39) |
missense |
probably damaging |
0.99 |
R9381:Ltbp1
|
UTSW |
17 |
75,696,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Ltbp1
|
UTSW |
17 |
75,597,112 (GRCm39) |
missense |
probably benign |
|
R9426:Ltbp1
|
UTSW |
17 |
75,598,309 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9448:Ltbp1
|
UTSW |
17 |
75,666,455 (GRCm39) |
nonsense |
probably null |
|
R9519:Ltbp1
|
UTSW |
17 |
75,692,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9523:Ltbp1
|
UTSW |
17 |
75,697,498 (GRCm39) |
missense |
probably benign |
0.29 |
R9625:Ltbp1
|
UTSW |
17 |
75,486,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9671:Ltbp1
|
UTSW |
17 |
75,603,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0001:Ltbp1
|
UTSW |
17 |
75,534,173 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCACTGTAAGACCAGTATTAGTG -3'
(R):5'- GGTATTTTCACCCCGACAACC -3'
Sequencing Primer
(F):5'- CTGTAAGACCAGTATTAGTGGAAAAC -3'
(R):5'- GAGCTATGCTTTCCAGTACAAGTCAC -3'
|
Posted On |
2016-04-15 |