Incidental Mutation 'RF031:Gab3'
ID |
604388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gab3
|
Ensembl Gene |
ENSMUSG00000032750 |
Gene Name |
growth factor receptor bound protein 2-associated protein 3 |
Synonyms |
5930433H21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF031 (G1)
|
Quality Score |
170.468 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
74032151-74128511 bp(-) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TCT to TCTGCT
at 74043602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037374]
[ENSMUST00000114104]
[ENSMUST00000114109]
|
AlphaFold |
Q8BSM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037374
|
SMART Domains |
Protein: ENSMUSP00000041951 Gene: ENSMUSG00000032750
Domain | Start | End | E-Value | Type |
PH
|
6 |
119 |
3.2e-21 |
SMART |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
low complexity region
|
307 |
314 |
N/A |
INTRINSIC |
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
coiled coil region
|
494 |
520 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114104
|
SMART Domains |
Protein: ENSMUSP00000109739 Gene: ENSMUSG00000032750
Domain | Start | End | E-Value | Type |
PH
|
6 |
119 |
3.2e-21 |
SMART |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
low complexity region
|
307 |
314 |
N/A |
INTRINSIC |
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
coiled coil region
|
495 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114109
|
SMART Domains |
Protein: ENSMUSP00000109744 Gene: ENSMUSG00000032750
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
coiled coil region
|
97 |
123 |
N/A |
INTRINSIC |
Pfam:Pcc1
|
170 |
228 |
1.1e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] PHENOTYPE: Females homozygous and males hemizygous for disruptions in this X-linked gene developed normally, exhibted normal hematopoiesis, and were immunocompetent. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
GCG |
GCGCCG |
19: 5,475,246 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCCTCCTCCTCCTCCTCCTCCTC |
CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC |
7: 80,162,654 (GRCm39) |
|
probably benign |
Het |
Blm |
CCTCCTCCTCC |
CCTCCTCCTCCTGCTCCTCCTCC |
7: 80,162,671 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
GGGA |
GGGATGTGACAGACACACTGCCCATGGA |
9: 86,922,498 (GRCm39) |
|
probably benign |
Het |
Dcdc2b |
GCTGC |
GCTGCCAGGACTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
Dclre1a |
CTTTGCT |
C |
19: 56,532,564 (GRCm39) |
|
probably benign |
Het |
Dctn6 |
AAATCATGGCTTGCGATCT |
A |
8: 34,572,236 (GRCm39) |
|
probably null |
Het |
Elovl5 |
G |
T |
9: 77,888,755 (GRCm39) |
|
probably null |
Het |
Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
G |
GCGTGTGCTGGTC |
5: 110,526,017 (GRCm39) |
|
probably benign |
Het |
Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
Flywch1 |
TCACTCACCCACTCCTGGTGT |
TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT |
17: 23,981,132 (GRCm39) |
|
probably null |
Het |
Gm11060 |
CTGTGTG |
CTG |
2: 104,922,385 (GRCm39) |
|
probably null |
Het |
Gm5475 |
GGTGGAAGGAAAG |
GG |
15: 100,325,029 (GRCm39) |
|
probably null |
Het |
Heatr3 |
TAT |
TATTAAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT |
9: 106,447,814 (GRCm39) |
|
probably benign |
Het |
Ivl |
GCTGCTGCTGCTGC |
G |
3: 92,479,625 (GRCm39) |
|
probably null |
Het |
Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
L1td1 |
AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG |
AGGAGGAGGAG |
4: 98,625,026 (GRCm39) |
|
probably benign |
Het |
Lca5l |
CCCTGGCCCCGGCC |
CCC |
16: 95,960,504 (GRCm39) |
|
probably null |
Het |
Loricrin |
ATAGCCG |
A |
3: 91,989,183 (GRCm39) |
|
probably benign |
Het |
Mapk7 |
GGGGCA |
GGGGCACGGGCA |
11: 61,381,060 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
Nolc1 |
CAGCAGC |
CAGCAGCAGGAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
TTTT |
TTTTGTTTTTGATTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
Phldb3 |
CGCCCCCG |
C |
7: 24,325,918 (GRCm39) |
|
probably null |
Het |
Setd1a |
GGTGGTAGT |
GGTGGTAGTAGTGGTAGT |
7: 127,384,483 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
CCCCAGTCCCGCAAGGCCAG |
CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG |
5: 77,164,257 (GRCm39) |
|
probably benign |
Het |
Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
Tedc2 |
AGGAACCCT |
AGGAACCCTGGAACCCT |
17: 24,435,213 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
C |
CCGCAGCAAA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
TCGTCGTC |
TCGTCGTCGTC |
2: 164,749,383 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gab3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00706:Gab3
|
APN |
X |
74,048,965 (GRCm39) |
missense |
probably benign |
0.00 |
R0894:Gab3
|
UTSW |
X |
74,077,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Gab3
|
UTSW |
X |
74,043,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Gab3
|
UTSW |
X |
74,043,585 (GRCm39) |
small insertion |
probably benign |
|
R9092:Gab3
|
UTSW |
X |
74,043,612 (GRCm39) |
small insertion |
probably benign |
|
R9092:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
R9096:Gab3
|
UTSW |
X |
74,043,610 (GRCm39) |
small insertion |
probably benign |
|
RF001:Gab3
|
UTSW |
X |
74,043,624 (GRCm39) |
small insertion |
probably benign |
|
RF003:Gab3
|
UTSW |
X |
74,043,612 (GRCm39) |
nonsense |
probably null |
|
RF006:Gab3
|
UTSW |
X |
74,043,633 (GRCm39) |
small insertion |
probably benign |
|
RF007:Gab3
|
UTSW |
X |
74,043,631 (GRCm39) |
small insertion |
probably benign |
|
RF007:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
RF007:Gab3
|
UTSW |
X |
74,043,617 (GRCm39) |
small insertion |
probably benign |
|
RF009:Gab3
|
UTSW |
X |
74,043,630 (GRCm39) |
nonsense |
probably null |
|
RF009:Gab3
|
UTSW |
X |
74,043,598 (GRCm39) |
small insertion |
probably benign |
|
RF010:Gab3
|
UTSW |
X |
74,043,617 (GRCm39) |
small insertion |
probably benign |
|
RF012:Gab3
|
UTSW |
X |
74,043,626 (GRCm39) |
small insertion |
probably benign |
|
RF016:Gab3
|
UTSW |
X |
74,043,591 (GRCm39) |
nonsense |
probably null |
|
RF020:Gab3
|
UTSW |
X |
74,043,623 (GRCm39) |
small insertion |
probably benign |
|
RF022:Gab3
|
UTSW |
X |
74,043,600 (GRCm39) |
nonsense |
probably null |
|
RF025:Gab3
|
UTSW |
X |
74,043,614 (GRCm39) |
small insertion |
probably benign |
|
RF026:Gab3
|
UTSW |
X |
74,043,629 (GRCm39) |
small insertion |
probably benign |
|
RF026:Gab3
|
UTSW |
X |
74,043,596 (GRCm39) |
small insertion |
probably benign |
|
RF028:Gab3
|
UTSW |
X |
74,043,623 (GRCm39) |
small insertion |
probably benign |
|
RF028:Gab3
|
UTSW |
X |
74,043,606 (GRCm39) |
nonsense |
probably null |
|
RF030:Gab3
|
UTSW |
X |
74,043,631 (GRCm39) |
small insertion |
probably benign |
|
RF030:Gab3
|
UTSW |
X |
74,043,632 (GRCm39) |
small insertion |
probably benign |
|
RF030:Gab3
|
UTSW |
X |
74,043,583 (GRCm39) |
small deletion |
probably benign |
|
RF030:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
RF030:Gab3
|
UTSW |
X |
74,043,614 (GRCm39) |
small insertion |
probably benign |
|
RF031:Gab3
|
UTSW |
X |
74,043,607 (GRCm39) |
small insertion |
probably benign |
|
RF031:Gab3
|
UTSW |
X |
74,043,603 (GRCm39) |
nonsense |
probably null |
|
RF033:Gab3
|
UTSW |
X |
74,043,629 (GRCm39) |
small insertion |
probably benign |
|
RF033:Gab3
|
UTSW |
X |
74,043,607 (GRCm39) |
small insertion |
probably benign |
|
RF039:Gab3
|
UTSW |
X |
74,043,610 (GRCm39) |
small insertion |
probably benign |
|
RF040:Gab3
|
UTSW |
X |
74,043,633 (GRCm39) |
small insertion |
probably benign |
|
RF042:Gab3
|
UTSW |
X |
74,043,628 (GRCm39) |
small insertion |
probably benign |
|
RF042:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
RF044:Gab3
|
UTSW |
X |
74,043,611 (GRCm39) |
small insertion |
probably benign |
|
RF047:Gab3
|
UTSW |
X |
74,043,599 (GRCm39) |
small insertion |
probably benign |
|
RF052:Gab3
|
UTSW |
X |
74,043,589 (GRCm39) |
small insertion |
probably benign |
|
RF055:Gab3
|
UTSW |
X |
74,043,616 (GRCm39) |
small insertion |
probably benign |
|
RF055:Gab3
|
UTSW |
X |
74,043,593 (GRCm39) |
small insertion |
probably benign |
|
RF058:Gab3
|
UTSW |
X |
74,043,608 (GRCm39) |
small insertion |
probably benign |
|
RF059:Gab3
|
UTSW |
X |
74,043,596 (GRCm39) |
small insertion |
probably benign |
|
RF060:Gab3
|
UTSW |
X |
74,043,619 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAACC -3'
Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CCACAGGGCTGTCTGTTC -3'
|
Posted On |
2019-12-04 |