Incidental Mutation 'R8937:Ltbp3'
| ID |
680762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
068710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R8937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5797512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 417
(T417A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081496
AA Change: T417A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: T417A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (71/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
C |
A |
3: 116,762,120 (GRCm39) |
|
probably benign |
Het |
| Actn3 |
C |
T |
19: 4,921,798 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
A |
7: 75,184,601 (GRCm39) |
|
probably null |
Het |
| Akap9 |
A |
T |
5: 4,094,048 (GRCm39) |
Q2190L |
possibly damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,823,452 (GRCm39) |
V190D |
possibly damaging |
Het |
| Atrn |
T |
A |
2: 130,841,157 (GRCm39) |
D1186E |
probably benign |
Het |
| Bank1 |
A |
T |
3: 135,989,934 (GRCm39) |
V52E |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,857,883 (GRCm39) |
N342D |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
G |
8: 105,677,669 (GRCm39) |
T225A |
probably damaging |
Het |
| Clic6 |
G |
T |
16: 92,296,245 (GRCm39) |
D302Y |
probably damaging |
Het |
| Clmn |
T |
A |
12: 104,763,341 (GRCm39) |
N95I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,232,840 (GRCm39) |
F749L |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,956 (GRCm39) |
F358L |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,283,098 (GRCm39) |
D573G |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,584,471 (GRCm39) |
Y625H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,115,007 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,483,350 (GRCm39) |
L3146P |
probably damaging |
Het |
| Gal3st2b |
G |
A |
1: 93,868,570 (GRCm39) |
S265N |
probably benign |
Het |
| Glis3 |
G |
A |
19: 28,643,266 (GRCm39) |
A92V |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,204,427 (GRCm39) |
M1L |
probably benign |
Het |
| Kcnj15 |
G |
A |
16: 95,097,548 (GRCm39) |
|
probably benign |
Het |
| Krt27 |
A |
G |
11: 99,239,551 (GRCm39) |
S310P |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,862,816 (GRCm39) |
D2982E |
probably damaging |
Het |
| Lrfn3 |
A |
G |
7: 30,059,451 (GRCm39) |
V258A |
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,594,193 (GRCm39) |
M128K |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,601,122 (GRCm39) |
T554A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,011,198 (GRCm39) |
S523G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,280,700 (GRCm39) |
A90V |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,895,110 (GRCm39) |
N53S |
probably benign |
Het |
| Muc15 |
T |
C |
2: 110,562,252 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
T |
11: 115,773,127 (GRCm39) |
M431L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nt5c3 |
T |
C |
6: 56,861,701 (GRCm39) |
D195G |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,874 (GRCm39) |
M253K |
probably benign |
Het |
| Or52h1 |
A |
G |
7: 103,828,949 (GRCm39) |
L222P |
possibly damaging |
Het |
| Pals1 |
T |
A |
12: 78,866,115 (GRCm39) |
D313E |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,125 (GRCm39) |
L102P |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,241 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,423,562 (GRCm39) |
Y409C |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,999 (GRCm39) |
Y124* |
probably null |
Het |
| Ralgapa1 |
T |
G |
12: 55,749,345 (GRCm39) |
I1233L |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,441 (GRCm39) |
D68E |
probably benign |
Het |
| Rere |
C |
A |
4: 150,699,331 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,321,100 (GRCm39) |
H1185L |
possibly damaging |
Het |
| Robo2 |
G |
T |
16: 73,770,150 (GRCm39) |
P529T |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,770,149 (GRCm39) |
P529L |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,061,181 (GRCm39) |
T1165A |
possibly damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,768,390 (GRCm39) |
|
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,690,450 (GRCm39) |
L456P |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,740,885 (GRCm39) |
Y267H |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,902 (GRCm39) |
I927T |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,362,006 (GRCm39) |
D156G |
probably benign |
Het |
| Sox5 |
A |
T |
6: 143,853,169 (GRCm39) |
S370T |
probably benign |
Het |
| Spen |
T |
C |
4: 141,201,374 (GRCm39) |
T2418A |
probably damaging |
Het |
| St8sia6 |
A |
T |
2: 13,701,705 (GRCm39) |
L104H |
probably damaging |
Het |
| Stox1 |
T |
A |
10: 62,500,430 (GRCm39) |
N710I |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,344,900 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
G |
A |
3: 88,655,051 (GRCm39) |
P417S |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
| Tfcp2l1 |
G |
A |
1: 118,596,447 (GRCm39) |
G394E |
possibly damaging |
Het |
| Tial1 |
A |
G |
7: 128,056,715 (GRCm39) |
I13T |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,361,981 (GRCm39) |
D535G |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,396,626 (GRCm39) |
M464V |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,757,063 (GRCm39) |
N2108K |
probably damaging |
Het |
| Tspan3 |
T |
C |
9: 56,053,883 (GRCm39) |
D156G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,592,607 (GRCm39) |
V20842I |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,190,886 (GRCm39) |
W4078R |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,051,795 (GRCm39) |
V220M |
possibly damaging |
Het |
| Vmn2r19 |
G |
A |
6: 123,293,283 (GRCm39) |
|
probably null |
Het |
| Vmn2r3 |
A |
T |
3: 64,166,673 (GRCm39) |
F819L |
probably damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,031,470 (GRCm39) |
Y250C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,393,888 (GRCm39) |
H4521R |
unknown |
Het |
| Zfp219 |
A |
T |
14: 52,244,224 (GRCm39) |
C652S |
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 |
|
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 |
|
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'- TCACAGAGGTTTCAGCGAGTC -3'
(R):5'- CTGCTGTGGTCAAGATGCAG -3'
Sequencing Primer
(F):5'- AGAGGTTTCAGCGAGTCCCATG -3'
(R):5'- CTGTGGTCAAGATGCAGACACC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation