Incidental Mutation 'R4296:Ltbp3'
| ID |
323365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
041656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R4296 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 5806610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000081496
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,811,513 (GRCm39) |
G993C |
probably damaging |
Het |
| Abcc2 |
G |
C |
19: 43,811,514 (GRCm39) |
G993A |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,488,673 (GRCm39) |
H810L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,641 (GRCm39) |
D5G |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,035 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,096,559 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,223,033 (GRCm39) |
Q193K |
probably benign |
Het |
| Arl9 |
C |
A |
5: 77,154,396 (GRCm39) |
N41K |
probably damaging |
Het |
| Armc1 |
A |
G |
3: 19,203,680 (GRCm39) |
M82T |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,381,960 (GRCm39) |
E526G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,285,922 (GRCm39) |
R809C |
probably damaging |
Het |
| Cd200r1 |
T |
C |
16: 44,610,033 (GRCm39) |
I84T |
probably damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,069,812 (GRCm39) |
V27A |
probably damaging |
Het |
| Clec4f |
G |
A |
6: 83,629,557 (GRCm39) |
Q334* |
probably null |
Het |
| Cpeb3 |
C |
T |
19: 37,151,389 (GRCm39) |
G329D |
possibly damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,661,490 (GRCm39) |
|
probably null |
Het |
| Dip2b |
A |
T |
15: 100,079,217 (GRCm39) |
M810L |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,908,773 (GRCm39) |
S158P |
probably damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,938,175 (GRCm39) |
E470* |
probably null |
Het |
| Flt3l |
A |
G |
7: 44,783,428 (GRCm39) |
F146S |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
| Gm11360 |
T |
A |
13: 28,140,295 (GRCm39) |
I53N |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,656 (GRCm39) |
V275D |
possibly damaging |
Het |
| Harbi1 |
T |
A |
2: 91,543,100 (GRCm39) |
M187K |
possibly damaging |
Het |
| Has3 |
T |
C |
8: 107,605,054 (GRCm39) |
V420A |
possibly damaging |
Het |
| Huwe1 |
C |
A |
X: 150,671,444 (GRCm39) |
T1012K |
probably benign |
Het |
| Iqcg |
G |
A |
16: 32,837,345 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,103,143 (GRCm39) |
G111R |
probably damaging |
Het |
| Keap1 |
A |
G |
9: 21,145,282 (GRCm39) |
S243P |
probably damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,472 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,249,238 (GRCm39) |
C684Y |
possibly damaging |
Het |
| Mcm3ap |
A |
T |
10: 76,343,171 (GRCm39) |
I1688F |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,987,553 (GRCm39) |
T21I |
probably damaging |
Het |
| Naf1 |
C |
T |
8: 67,342,114 (GRCm39) |
P580S |
possibly damaging |
Het |
| Nherf4 |
G |
A |
9: 44,160,158 (GRCm39) |
R349C |
probably benign |
Het |
| Nlrp3 |
A |
T |
11: 59,440,487 (GRCm39) |
E688V |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,470,129 (GRCm39) |
H259R |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,310,284 (GRCm39) |
T516A |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,017,230 (GRCm39) |
T275S |
probably damaging |
Het |
| Ogdh |
T |
G |
11: 6,299,374 (GRCm39) |
F743V |
probably damaging |
Het |
| Or5aq6 |
T |
C |
2: 86,922,974 (GRCm39) |
T256A |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6c215 |
C |
A |
10: 129,638,169 (GRCm39) |
C75F |
probably damaging |
Het |
| Or6c75 |
C |
A |
10: 129,337,339 (GRCm39) |
C195* |
probably null |
Het |
| Or9i1b |
A |
G |
19: 13,896,717 (GRCm39) |
E111G |
probably damaging |
Het |
| Peg10 |
GGAT |
GGATCCCCATCATGAT |
6: 4,756,472 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,217,866 (GRCm39) |
Y819F |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,070,591 (GRCm39) |
G20C |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,881,663 (GRCm39) |
T997A |
possibly damaging |
Het |
| Polr3a |
T |
A |
14: 24,503,264 (GRCm39) |
Q1190L |
possibly damaging |
Het |
| Ppp1r15a |
T |
A |
7: 45,173,173 (GRCm39) |
K800* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,555,769 (GRCm39) |
M2181K |
probably damaging |
Het |
| Pskh1 |
C |
A |
8: 106,639,536 (GRCm39) |
A72E |
probably benign |
Het |
| Purg |
T |
C |
8: 33,877,321 (GRCm39) |
Y320H |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,988,034 (GRCm39) |
|
probably null |
Het |
| Rnps1 |
T |
A |
17: 24,644,089 (GRCm39) |
|
probably benign |
Het |
| Scgb2b21 |
A |
T |
7: 33,219,233 (GRCm39) |
V57E |
probably benign |
Het |
| Sdhaf2 |
A |
T |
19: 10,502,439 (GRCm39) |
I7N |
probably benign |
Het |
| Six4 |
A |
G |
12: 73,150,899 (GRCm39) |
Y549H |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,064,772 (GRCm39) |
V209F |
possibly damaging |
Het |
| Slc4a11 |
C |
A |
2: 130,526,927 (GRCm39) |
V734F |
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,959,904 (GRCm39) |
M27K |
possibly damaging |
Het |
| Tecrl |
A |
T |
5: 83,461,174 (GRCm39) |
C79* |
probably null |
Het |
| Tgm3 |
G |
T |
2: 129,880,333 (GRCm39) |
V380L |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,501,120 (GRCm39) |
M920L |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,968,237 (GRCm39) |
N729S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,581 (GRCm39) |
L223P |
probably damaging |
Het |
| Tmem268 |
T |
C |
4: 63,484,005 (GRCm39) |
|
probably null |
Het |
| Tmpo |
A |
T |
10: 90,998,818 (GRCm39) |
I323K |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,440,549 (GRCm39) |
S302G |
probably benign |
Het |
| Trip11 |
C |
A |
12: 101,852,127 (GRCm39) |
E361* |
probably null |
Het |
| Tspyl3 |
T |
A |
2: 153,067,076 (GRCm39) |
N54I |
possibly damaging |
Het |
| Upp2 |
A |
T |
2: 58,668,021 (GRCm39) |
Y220F |
probably damaging |
Het |
| Usp22 |
G |
T |
11: 61,052,290 (GRCm39) |
|
probably null |
Het |
| Vezt |
ACTCCTCCT |
ACTCCT |
10: 93,809,793 (GRCm39) |
|
probably benign |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,562 (GRCm39) |
G296W |
probably damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,954,113 (GRCm39) |
V94A |
possibly damaging |
Het |
| Zfp607a |
A |
T |
7: 27,565,073 (GRCm39) |
E80V |
probably 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 |
|
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 |
|
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'- ACTTGCAGGGTAAACTCCAC -3'
(R):5'- AAGCACTCATCCACGTCTG -3'
Sequencing Primer
(F):5'- TCCACCCCTTACAACAGCTTG -3'
(R):5'- TCATCCACGTCTGGGGAGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation