Incidental Mutation 'R1510:Ltbp3'
| ID |
167900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
039557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1510 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5798915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 544
(S544P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081496
AA Change: S544P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: S544P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
EGF
|
109 |
138 |
6.76e-3 |
SMART |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
273 |
N/A |
INTRINSIC |
|
Pfam:TB
|
286 |
323 |
8e-9 |
PFAM |
|
EGF_CA
|
352 |
392 |
2.08e-12 |
SMART |
|
Pfam:TB
|
411 |
451 |
4.8e-18 |
PFAM |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
EGF_CA
|
571 |
612 |
8.71e-6 |
SMART |
|
EGF_CA
|
613 |
656 |
2.8e-9 |
SMART |
|
EGF_CA
|
657 |
699 |
2.48e-10 |
SMART |
|
EGF_CA
|
700 |
740 |
4.96e-10 |
SMART |
|
EGF_CA
|
741 |
781 |
1.69e-12 |
SMART |
|
EGF_CA
|
782 |
822 |
1.94e-12 |
SMART |
|
EGF_CA
|
823 |
862 |
3.27e-10 |
SMART |
|
EGF_CA
|
863 |
905 |
3.32e-11 |
SMART |
|
Pfam:TB
|
925 |
967 |
5.7e-16 |
PFAM |
|
EGF_CA
|
990 |
1032 |
4.49e-8 |
SMART |
|
EGF_CA
|
1033 |
1073 |
3.17e-8 |
SMART |
|
Pfam:TB
|
1097 |
1134 |
1.2e-11 |
PFAM |
|
EGF
|
1170 |
1203 |
1.53e1 |
SMART |
|
EGF_CA
|
1204 |
1248 |
1.53e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.0658 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,115,847 (GRCm39) |
T616S |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
| Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
| Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
| Cyb5r4 |
T |
C |
9: 86,948,696 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
| Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
| Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
| Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
| Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
| Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
| Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
| Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
| Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
| Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
| Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,078,833 (GRCm39) |
Y864H |
probably benign |
Het |
| Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
| Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
| Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
| Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,969,776 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
| Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
| Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,955,547 (GRCm39) |
V497D |
probably damaging |
Het |
| Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
| Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
| Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
| Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
| Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
| Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ltbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Ltbp3
|
APN |
19 |
5,806,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00978:Ltbp3
|
APN |
19 |
5,804,047 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01517:Ltbp3
|
APN |
19 |
5,807,760 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01529:Ltbp3
|
APN |
19 |
5,797,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03119:Ltbp3
|
APN |
19 |
5,807,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
abner
|
UTSW |
19 |
5,795,685 (GRCm39) |
missense |
probably benign |
0.09 |
|
csp
|
UTSW |
19 |
5,797,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lilia
|
UTSW |
19 |
5,797,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
Rapunzel
|
UTSW |
19 |
5,803,970 (GRCm39) |
nonsense |
probably null |
|
|
PIT4305001:Ltbp3
|
UTSW |
19 |
5,802,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Ltbp3
|
UTSW |
19 |
5,807,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Ltbp3
|
UTSW |
19 |
5,801,254 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0211:Ltbp3
|
UTSW |
19 |
5,802,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0718:Ltbp3
|
UTSW |
19 |
5,796,776 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Ltbp3
|
UTSW |
19 |
5,797,440 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1103:Ltbp3
|
UTSW |
19 |
5,797,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1299:Ltbp3
|
UTSW |
19 |
5,795,456 (GRCm39) |
splice site |
probably benign |
|
|
R1616:Ltbp3
|
UTSW |
19 |
5,796,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Ltbp3
|
UTSW |
19 |
5,801,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1752:Ltbp3
|
UTSW |
19 |
5,795,685 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1806:Ltbp3
|
UTSW |
19 |
5,803,970 (GRCm39) |
nonsense |
probably null |
|
|
R1866:Ltbp3
|
UTSW |
19 |
5,797,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1981:Ltbp3
|
UTSW |
19 |
5,808,107 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2211:Ltbp3
|
UTSW |
19 |
5,803,990 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2239:Ltbp3
|
UTSW |
19 |
5,801,551 (GRCm39) |
nonsense |
probably null |
|
|
R2261:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2263:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2380:Ltbp3
|
UTSW |
19 |
5,801,551 (GRCm39) |
nonsense |
probably null |
|
|
R2412:Ltbp3
|
UTSW |
19 |
5,796,673 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2446:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2449:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3056:Ltbp3
|
UTSW |
19 |
5,801,434 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3080:Ltbp3
|
UTSW |
19 |
5,806,916 (GRCm39) |
frame shift |
probably null |
|
|
R3863:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3864:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3951:Ltbp3
|
UTSW |
19 |
5,806,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3962:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3963:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3972:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4028:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4031:Ltbp3
|
UTSW |
19 |
5,804,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4041:Ltbp3
|
UTSW |
19 |
5,801,899 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4060:Ltbp3
|
UTSW |
19 |
5,792,348 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4296:Ltbp3
|
UTSW |
19 |
5,806,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4525:Ltbp3
|
UTSW |
19 |
5,796,387 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4660:Ltbp3
|
UTSW |
19 |
5,798,814 (GRCm39) |
splice site |
probably null |
|
|
R4794:Ltbp3
|
UTSW |
19 |
5,806,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Ltbp3
|
UTSW |
19 |
5,803,955 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5071:Ltbp3
|
UTSW |
19 |
5,806,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Ltbp3
|
UTSW |
19 |
5,797,849 (GRCm39) |
missense |
probably benign |
|
|
R5771:Ltbp3
|
UTSW |
19 |
5,797,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Ltbp3
|
UTSW |
19 |
5,803,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6053:Ltbp3
|
UTSW |
19 |
5,802,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6321:Ltbp3
|
UTSW |
19 |
5,795,685 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6339:Ltbp3
|
UTSW |
19 |
5,797,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Ltbp3
|
UTSW |
19 |
5,795,800 (GRCm39) |
splice site |
probably null |
|
|
R6709:Ltbp3
|
UTSW |
19 |
5,797,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7666:Ltbp3
|
UTSW |
19 |
5,797,034 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8499:Ltbp3
|
UTSW |
19 |
5,798,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8937:Ltbp3
|
UTSW |
19 |
5,797,512 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9362:Ltbp3
|
UTSW |
19 |
5,803,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9645:Ltbp3
|
UTSW |
19 |
5,802,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Ltbp3
|
UTSW |
19 |
5,792,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9774:Ltbp3
|
UTSW |
19 |
5,804,014 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0066:Ltbp3
|
UTSW |
19 |
5,801,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ltbp3
|
UTSW |
19 |
5,797,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACGCTGAGACCTACCCTACC -3'
(R):5'- GAAAAGTACAGCGACACCTCTCCTG -3'
Sequencing Primer
(F):5'- AGGGCTTACGTTACTGTAACC -3'
(R):5'- CTCCAAGTTCTGGGCAAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation