Incidental Mutation 'R9105:Gab1'
| ID |
691964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| MMRRC Submission |
068917-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81515589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 243
(D243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
| AlphaFold |
Q9QYY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034150
AA Change: D243G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: D243G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
118 |
1.16e-23 |
SMART |
|
low complexity region
|
336 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210676
AA Change: D243G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(43) : Targeted, knock-out(1) Targeted, other(8) Gene trapped(34) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,439,407 (GRCm39) |
K139* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,269,002 (GRCm39) |
K221I |
probably benign |
Het |
| Actrt2 |
G |
A |
4: 154,751,677 (GRCm39) |
T153I |
probably damaging |
Het |
| Adam34 |
C |
T |
8: 44,103,785 (GRCm39) |
C620Y |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,543,289 (GRCm39) |
K812E |
possibly damaging |
Het |
| Aig1 |
T |
C |
10: 13,529,339 (GRCm39) |
T224A |
probably benign |
Het |
| Apbb2 |
G |
T |
5: 66,460,015 (GRCm39) |
S694* |
probably null |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Bcl3 |
T |
A |
7: 19,543,175 (GRCm39) |
I352F |
probably damaging |
Het |
| Btbd19 |
C |
T |
4: 116,977,961 (GRCm39) |
R276Q |
probably damaging |
Het |
| Btnl9 |
G |
A |
11: 49,066,461 (GRCm39) |
P368S |
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,144 (GRCm39) |
V303A |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,412,537 (GRCm39) |
T302A |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,360,968 (GRCm39) |
D790G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,835,561 (GRCm39) |
N45S |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,419,366 (GRCm39) |
Y1238F |
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,837,351 (GRCm39) |
L373F |
probably damaging |
Het |
| Dolpp1 |
A |
T |
2: 30,289,152 (GRCm39) |
|
probably null |
Het |
| Efr3b |
A |
T |
12: 4,031,782 (GRCm39) |
L340Q |
probably damaging |
Het |
| Ehd4 |
T |
C |
2: 119,932,760 (GRCm39) |
N222S |
probably damaging |
Het |
| Fgf8 |
A |
C |
19: 45,730,490 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,539,994 (GRCm39) |
I205V |
probably damaging |
Het |
| G6pc3 |
C |
T |
11: 102,084,403 (GRCm39) |
A271V |
probably benign |
Het |
| Gbp9 |
A |
G |
5: 105,241,942 (GRCm39) |
I205T |
probably benign |
Het |
| Gtf2b |
T |
A |
3: 142,489,050 (GRCm39) |
F304Y |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Ip6k3 |
A |
G |
17: 27,364,169 (GRCm39) |
L293P |
probably damaging |
Het |
| Itgb7 |
A |
G |
15: 102,135,904 (GRCm39) |
S44P |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lancl1 |
T |
A |
1: 67,043,962 (GRCm39) |
Y346F |
possibly damaging |
Het |
| Lca5l |
T |
G |
16: 95,960,671 (GRCm39) |
E602A |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,573,311 (GRCm39) |
A689T |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,396,803 (GRCm39) |
V421A |
|
Het |
| Lrrtm3 |
A |
G |
10: 63,924,336 (GRCm39) |
V277A |
possibly damaging |
Het |
| Lypla1 |
T |
C |
1: 4,911,282 (GRCm39) |
L189P |
probably damaging |
Het |
| Msantd3 |
A |
T |
4: 48,560,963 (GRCm39) |
N180Y |
possibly damaging |
Het |
| Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
| Myo19 |
T |
C |
11: 84,794,029 (GRCm39) |
I651T |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,780,070 (GRCm39) |
S57G |
probably benign |
Het |
| Or12d16-ps1 |
C |
T |
17: 37,705,731 (GRCm39) |
T100I |
probably benign |
Het |
| Or1j14 |
A |
G |
2: 36,418,294 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4c117 |
C |
T |
2: 88,955,995 (GRCm39) |
V27I |
probably benign |
Het |
| Or6p1 |
T |
A |
1: 174,258,861 (GRCm39) |
I289N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Pla2g6 |
T |
A |
15: 79,183,397 (GRCm39) |
|
probably null |
Het |
| Pnrc1 |
C |
A |
4: 33,246,207 (GRCm39) |
G251* |
probably null |
Het |
| Pramel14 |
A |
T |
4: 143,718,595 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
A |
T |
7: 18,555,333 (GRCm39) |
V3E |
probably benign |
Het |
| Psmb9 |
A |
T |
17: 34,401,905 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
A |
G |
2: 164,838,114 (GRCm39) |
T982A |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,485,465 (GRCm39) |
D286G |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,285,236 (GRCm39) |
S153P |
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,854,591 (GRCm39) |
S886I |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,745,544 (GRCm39) |
D630E |
probably damaging |
Het |
| Vnn3 |
T |
C |
10: 23,740,461 (GRCm39) |
W255R |
probably damaging |
Het |
| Vps13c |
T |
G |
9: 67,778,081 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,512 (GRCm39) |
Q2332R |
probably benign |
Het |
| Xkr8 |
A |
T |
4: 132,459,648 (GRCm39) |
Y43* |
probably null |
Het |
|
| Other mutations in Gab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01679:Gab1
|
APN |
8 |
81,518,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02610:Gab1
|
APN |
8 |
81,526,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02661:Gab1
|
APN |
8 |
81,515,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Gab1
|
APN |
8 |
81,496,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fallen_angel
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
fleabite
|
UTSW |
8 |
81,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Welterweight
|
UTSW |
8 |
81,501,594 (GRCm39) |
nonsense |
probably null |
|
|
D3080:Gab1
|
UTSW |
8 |
81,493,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Gab1
|
UTSW |
8 |
81,496,359 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0144:Gab1
|
UTSW |
8 |
81,511,830 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Gab1
|
UTSW |
8 |
81,526,789 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0414:Gab1
|
UTSW |
8 |
81,526,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Gab1
|
UTSW |
8 |
81,526,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Gab1
|
UTSW |
8 |
81,496,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Gab1
|
UTSW |
8 |
81,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1068:Gab1
|
UTSW |
8 |
81,526,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1175:Gab1
|
UTSW |
8 |
81,511,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1240:Gab1
|
UTSW |
8 |
81,515,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Gab1
|
UTSW |
8 |
81,515,241 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1656:Gab1
|
UTSW |
8 |
81,515,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Gab1
|
UTSW |
8 |
81,493,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Gab1
|
UTSW |
8 |
81,511,382 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2861:Gab1
|
UTSW |
8 |
81,511,382 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4683:Gab1
|
UTSW |
8 |
81,515,261 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4726:Gab1
|
UTSW |
8 |
81,515,682 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5425:Gab1
|
UTSW |
8 |
81,527,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Gab1
|
UTSW |
8 |
81,496,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Gab1
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Gab1
|
UTSW |
8 |
81,518,237 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6233:Gab1
|
UTSW |
8 |
81,606,161 (GRCm39) |
nonsense |
probably null |
|
|
R6407:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6408:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6415:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6418:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6479:Gab1
|
UTSW |
8 |
81,515,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7019:Gab1
|
UTSW |
8 |
81,511,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7291:Gab1
|
UTSW |
8 |
81,526,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Gab1
|
UTSW |
8 |
81,515,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7875:Gab1
|
UTSW |
8 |
81,515,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Gab1
|
UTSW |
8 |
81,511,395 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8405:Gab1
|
UTSW |
8 |
81,501,594 (GRCm39) |
nonsense |
probably null |
|
|
R9485:Gab1
|
UTSW |
8 |
81,515,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Gab1
|
UTSW |
8 |
81,606,193 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGCGGAATGTCGTAAC -3'
(R):5'- TTGCCAAAACTGACTCGACTGTG -3'
Sequencing Primer
(F):5'- TGGATACATGTCTCATCTGCG -3'
(R):5'- CCAAAACTGACTCGACTGTGGTTTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation