Incidental Mutation 'RF042:Gab3'
ID |
604897 |
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 # |
RF042 (G1)
|
Quality Score |
136.467 |
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 TCTACT
at 74043611 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: 98.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (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 |
|
RF031:Gab3
|
UTSW |
X |
74,043,602 (GRCm39) |
small insertion |
probably benign |
|
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 |
|
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'- CCGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTGGAAGGAACAGGCTCAAACC -3'
Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CCCACAGGGCTGTCTGTTC -3'
|
Posted On |
2019-12-04 |