Incidental Mutation 'R6321:Ltbp3'
| ID |
510373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5795685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 180
(H180Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081496
AA Change: H180Q
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: H180Q
| 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 |
0.0800 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
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 |
|
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 |
|
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'- TCAGGTTCCCAATAAGAGCAGAG -3'
(R):5'- AATCCGACCACCCTTATTGC -3'
Sequencing Primer
(F):5'- AGTGCTCTTCCCGAAACCAGTG -3'
(R):5'- ATTGCCCGCCCGTTTAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation