Incidental Mutation 'RF028:Gab3'
ID |
604253 |
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 # |
RF028 (G1)
|
Quality Score |
129.467 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
74032151-74128511 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
CTTCTT to CTTATTCTT
at 74043606 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 null
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 null
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 null
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: 98.7%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GCCATTCTTTATGACTGCACAC -3'
(R):5'- CTTGGGCCAAAAGGAAGTTGTG -3'
Sequencing Primer
(F):5'- cacacacactaacacacac -3'
(R):5'- TGTTTGGAAGGAACAGGCTC -3'
|
Posted On |
2019-12-04 |