Incidental Mutation 'RF028:Gab3'
ID 604254
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) question?
Stock # RF028 (G1)
Quality Score 151.467
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 TCTGCT at 74043623 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 74,043,606 (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
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'- CTTGGGCCAAAAGGAAGTTG -3'

Sequencing Primer
(F):5'- cacacacactaacacacac -3'
(R):5'- TGTTTGGAAGGAACAGGCTC -3'
Posted On 2019-12-04