Incidental Mutation 'R0006:Gab1'
| ID |
43645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gab1
|
| Ensembl Gene |
ENSMUSG00000031714 |
| Gene Name |
growth factor receptor bound protein 2-associated protein 1 |
| Synonyms |
|
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
81491067-81607148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81496359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 617
(M617K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034150]
[ENSMUST00000210676]
|
| AlphaFold |
Q9QYY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034150
AA Change: M617K
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: M617K
| 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 |
noncoding transcript
Transcript: ENSMUST00000210546
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210676
AA Change: M647K
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0797 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.3%
|
| Validation Efficiency |
97% (67/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,813,935 (GRCm39) |
|
probably benign |
Het |
| Aldh3a1 |
G |
A |
11: 61,107,927 (GRCm39) |
V324M |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,723,686 (GRCm39) |
L694Q |
possibly damaging |
Het |
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Boc |
C |
T |
16: 44,316,812 (GRCm39) |
V444I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,232 (GRCm39) |
V655I |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Cyp3a41a |
T |
A |
5: 145,641,606 (GRCm39) |
H288L |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,262,453 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Farsa |
G |
T |
8: 85,587,934 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
T |
G |
2: 31,728,599 (GRCm39) |
D86A |
probably damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Ggh |
C |
A |
4: 20,054,155 (GRCm39) |
T150K |
possibly damaging |
Het |
| Gnb3 |
G |
A |
6: 124,812,767 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,684,427 (GRCm39) |
P381L |
probably damaging |
Het |
| Hspa8 |
T |
G |
9: 40,715,925 (GRCm39) |
N544K |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,247,242 (GRCm39) |
T1155I |
probably damaging |
Het |
| Igdcc4 |
C |
T |
9: 65,042,382 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Lcor |
A |
G |
19: 41,573,338 (GRCm39) |
T698A |
probably benign |
Het |
| Lyrm7 |
T |
A |
11: 54,739,423 (GRCm39) |
T76S |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,727,414 (GRCm39) |
|
probably benign |
Het |
| Muc13 |
T |
C |
16: 33,623,518 (GRCm39) |
S271P |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,102,978 (GRCm39) |
E531G |
possibly damaging |
Het |
| Niban3 |
A |
G |
8: 72,057,688 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,035 (GRCm39) |
V553A |
probably benign |
Het |
| Or1e16 |
A |
G |
11: 73,286,314 (GRCm39) |
F178S |
probably damaging |
Het |
| Or1e1c |
A |
G |
11: 73,266,414 (GRCm39) |
M283V |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,527 (GRCm39) |
I14V |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,504,610 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,516 (GRCm39) |
V134D |
possibly damaging |
Het |
| P4ha3 |
C |
T |
7: 99,968,155 (GRCm39) |
R378* |
probably null |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,148,284 (GRCm39) |
S244R |
probably benign |
Het |
| Rpp40 |
G |
A |
13: 36,080,718 (GRCm39) |
P339S |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,751,059 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tle4 |
A |
G |
19: 14,444,078 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,901,266 (GRCm39) |
S1027P |
probably benign |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,287,075 (GRCm39) |
F640L |
probably benign |
Het |
| Vmn1r20 |
T |
G |
6: 57,409,290 (GRCm39) |
H205Q |
probably damaging |
Het |
| Wbp2 |
T |
C |
11: 115,970,614 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
C |
9: 119,846,520 (GRCm39) |
I788V |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,296,637 (GRCm39) |
|
probably null |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,061,227 (GRCm39) |
Y264C |
probably damaging |
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 |
|
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 |
|
|
R9105:Gab1
|
UTSW |
8 |
81,515,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGAGTAGAAACTGCACAACTGACCG -3'
(R):5'- TTGAACAAGGTAGTGACCCTCCCC -3'
Sequencing Primer
(F):5'- TGCTTGTGACTTAGGAAACAACAG -3'
(R):5'- AGTGACCCTCCCCATCCC -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation