Incidental Mutation 'RF006:Gab3'
ID 602855
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 # RF006 (G1)
Quality Score 110.467
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) CTT to CTTTTT at 74043633 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: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (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
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
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'- CCGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAACC -3'

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