Incidental Mutation 'R2263:Ltbp3'
| ID |
243964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
040263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2263 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5804050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 854
(R854Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025890]
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025890
|
| SMART Domains |
Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
28 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
30 |
254 |
3.3e-11 |
PFAM |
|
Pfam:Pkinase
|
31 |
252 |
2e-14 |
PFAM |
|
SCOP:d1gw5a_
|
350 |
536 |
1e-18 |
SMART |
|
low complexity region
|
556 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
coiled coil region
|
759 |
795 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081496
AA Change: R854Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: R854Q
| 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 |
0.0730 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,224,702 (GRCm39) |
S472P |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,920,788 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,654,271 (GRCm39) |
R778Q |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,202,545 (GRCm39) |
D693V |
probably damaging |
Het |
| Car12 |
C |
A |
9: 66,654,913 (GRCm39) |
Y114* |
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
G |
8: 11,362,586 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
G |
T |
14: 57,523,865 (GRCm39) |
Y232* |
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,809 (GRCm39) |
N798S |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,462 (GRCm39) |
N737K |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,349,918 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,755,298 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,943,138 (GRCm39) |
V677A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,228,248 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,320,648 (GRCm39) |
Y314* |
probably null |
Het |
| Fgf12 |
T |
A |
16: 28,008,363 (GRCm39) |
K84* |
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Folh1 |
C |
T |
7: 86,368,973 (GRCm39) |
S685N |
probably benign |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Hdac7 |
A |
G |
15: 97,708,732 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
A |
T |
12: 51,962,933 (GRCm39) |
V989E |
probably damaging |
Het |
| Kif12 |
A |
G |
4: 63,087,758 (GRCm39) |
S242P |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,387 (GRCm39) |
V286E |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,696 (GRCm39) |
V284I |
possibly damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,131 (GRCm39) |
L184Q |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,111 (GRCm39) |
I384V |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,430,988 (GRCm39) |
|
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,851,132 (GRCm39) |
D5E |
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,278,260 (GRCm39) |
N348I |
possibly damaging |
Het |
| Shisa9 |
G |
T |
16: 11,802,631 (GRCm39) |
A63S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,097,319 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
T |
C |
2: 136,885,935 (GRCm39) |
I85T |
probably damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,133,782 (GRCm39) |
D77V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,690,006 (GRCm39) |
|
probably null |
Het |
| Synrg |
T |
C |
11: 83,867,978 (GRCm39) |
M61T |
possibly damaging |
Het |
| Tekt4 |
T |
A |
17: 25,695,485 (GRCm39) |
S439R |
possibly damaging |
Het |
| Ticam1 |
A |
T |
17: 56,578,888 (GRCm39) |
V69E |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,132,508 (GRCm39) |
A374V |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,842 (GRCm39) |
L416* |
probably null |
Het |
| Uqcrfs1 |
G |
A |
13: 30,725,090 (GRCm39) |
S150L |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,646,327 (GRCm39) |
V1477E |
probably benign |
Het |
| Wdr87-ps |
T |
C |
7: 29,231,987 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo1 |
T |
A |
11: 23,234,634 (GRCm39) |
|
probably null |
Het |
| Xpo5 |
A |
G |
17: 46,541,269 (GRCm39) |
I769V |
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,724,773 (GRCm39) |
H252L |
probably benign |
Het |
| Zfp410 |
G |
T |
12: 84,369,794 (GRCm39) |
|
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,979,297 (GRCm39) |
E372G |
possibly damaging |
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 |
|
|
R1510:Ltbp3
|
UTSW |
19 |
5,798,915 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- CCATCCAGATCCCAGTTGTG -3'
(R):5'- CTACAGAAAAGCTACAGTGTGTC -3'
Sequencing Primer
(F):5'- CATCCAGATCCCAGTTGTGATTTGAG -3'
(R):5'- GCTACAGTGTGTCAAATAGATAGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation