Incidental Mutation 'R2102:Gab3'
ID 230641
Institutional Source Beutler Lab
Gene Symbol Gab3
Ensembl Gene ENSMUSG00000032750
Gene Name growth factor receptor bound protein 2-associated protein 3
Synonyms 5930433H21Rik
MMRRC Submission 040106-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2102 (G1)
Quality Score 170
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) TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC to TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC at 74043585 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 noncoding transcript
Transcript: ENSMUST00000084001
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129495
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,770,934 (GRCm39) L41P probably damaging Het
Abca8a G T 11: 109,958,878 (GRCm39) P749T probably damaging Het
Acad8 A T 9: 26,896,861 (GRCm39) Y199* probably null Het
Acot12 A T 13: 91,908,096 (GRCm39) I93L probably benign Het
Acsbg3 T A 17: 57,191,949 (GRCm39) Y542* probably null Het
Actn1 C A 12: 80,230,291 (GRCm39) R321L probably benign Het
Ap3s1 A G 18: 46,887,469 (GRCm39) E34G possibly damaging Het
Armh4 A G 14: 50,011,459 (GRCm39) Y83H probably damaging Het
Atp5f1a T C 18: 77,870,017 (GRCm39) S533P probably damaging Het
Bcorl1 T C X: 47,458,081 (GRCm39) V538A probably benign Het
Cdhr4 A G 9: 107,875,206 (GRCm39) T689A probably damaging Het
Cdk19 A T 10: 40,355,726 (GRCm39) probably benign Het
Cobll1 G T 2: 64,928,554 (GRCm39) P923Q probably damaging Het
Cpt1a T C 19: 3,421,585 (GRCm39) S456P probably benign Het
Cst11 T C 2: 148,613,160 (GRCm39) Y55C probably damaging Het
Ctif T G 18: 75,654,452 (GRCm39) D358A probably benign Het
Cyp2d34 T G 15: 82,500,974 (GRCm39) E386A probably benign Het
Dcxr A G 11: 120,617,133 (GRCm39) F104L probably benign Het
Dmbt1 G T 7: 130,703,762 (GRCm39) W1107C probably damaging Het
Dsg1a A T 18: 20,466,830 (GRCm39) I567F probably damaging Het
Ednrb T A 14: 104,058,350 (GRCm39) R318* probably null Het
Exd2 T C 12: 80,527,377 (GRCm39) I36T possibly damaging Het
Fam83b A T 9: 76,399,987 (GRCm39) I372N probably damaging Het
Fbh1 A G 2: 11,763,100 (GRCm39) V518A probably benign Het
Fkbp5 T C 17: 28,625,162 (GRCm39) E308G possibly damaging Het
Foxl2 A C 9: 98,838,282 (GRCm39) Y190S probably damaging Het
Galnt17 C T 5: 131,114,831 (GRCm39) R223Q probably damaging Het
Gm14496 G A 2: 181,633,127 (GRCm39) D37N possibly damaging Het
Gpr82 T C X: 13,532,274 (GRCm39) V274A probably benign Het
Hsp90aa1 T C 12: 110,660,566 (GRCm39) N292S probably damaging Het
Ints1 C T 5: 139,741,754 (GRCm39) V1826M possibly damaging Het
Itgb4 A G 11: 115,896,561 (GRCm39) D1440G probably benign Het
Kdm3b A G 18: 34,963,200 (GRCm39) D1552G probably damaging Het
Kel G A 6: 41,663,418 (GRCm39) T702I possibly damaging Het
Klf3 T C 5: 64,979,266 (GRCm39) V36A probably damaging Het
Klhl23 A T 2: 69,659,228 (GRCm39) I418F probably damaging Het
Kndc1 A T 7: 139,510,674 (GRCm39) I1329L probably benign Het
Krtap2-4 T C 11: 99,505,606 (GRCm39) probably benign Het
Krtap9-5 T A 11: 99,840,270 (GRCm39) C324S unknown Het
Lepr T C 4: 101,630,178 (GRCm39) V631A possibly damaging Het
Lifr T C 15: 7,216,404 (GRCm39) I793T probably damaging Het
Mcoln1 G A 8: 3,561,731 (GRCm39) R427H probably damaging Het
Mgat5b G A 11: 116,810,255 (GRCm39) probably benign Het
Mmp12 G A 9: 7,349,802 (GRCm39) V78M probably damaging Het
Mrgprb8 T A 7: 48,038,634 (GRCm39) L102M possibly damaging Het
Mybphl A G 3: 108,282,949 (GRCm39) T246A possibly damaging Het
Myo7b A T 18: 32,133,031 (GRCm39) F439L probably damaging Het
Myom1 A T 17: 71,408,024 (GRCm39) D1088V probably damaging Het
Nrcam T C 12: 44,623,471 (GRCm39) F1004S probably benign Het
Palld A T 8: 61,986,467 (GRCm39) M788K possibly damaging Het
Pappa T A 4: 65,234,465 (GRCm39) Y1423* probably null Het
Pfkm A G 15: 98,027,171 (GRCm39) K615E probably damaging Het
Pkd1l2 G T 8: 117,808,208 (GRCm39) D105E probably damaging Het
Plekha5 G A 6: 140,518,603 (GRCm39) A297T probably damaging Het
Plxnb1 T A 9: 108,944,810 (GRCm39) M2051K probably damaging Het
Ppp6r2 A G 15: 89,162,949 (GRCm39) T524A probably damaging Het
Psg26 T C 7: 18,209,067 (GRCm39) E447G probably damaging Het
Rab3gap2 A G 1: 185,014,586 (GRCm39) D1225G probably benign Het
Rep15 A G 6: 146,934,403 (GRCm39) probably null Het
Rgl2 G A 17: 34,152,314 (GRCm39) probably null Het
Rpl7a T G 2: 26,801,473 (GRCm39) V55G possibly damaging Het
Rtp1 A T 16: 23,250,108 (GRCm39) I158F probably benign Het
Scaper A T 9: 55,819,334 (GRCm39) V127E probably benign Het
Sele T A 1: 163,881,395 (GRCm39) C501S probably damaging Het
Serpina11 C T 12: 103,949,104 (GRCm39) V358I probably benign Het
Slc16a4 A G 3: 107,211,819 (GRCm39) probably null Het
Slco6c1 T C 1: 97,055,656 (GRCm39) I82V probably benign Het
Smarca5 T C 8: 81,431,304 (GRCm39) E971G probably damaging Het
Smr2 T C 5: 88,256,595 (GRCm39) L91P probably damaging Het
Spata31f3 T A 4: 42,868,558 (GRCm39) H355L probably benign Het
Spopfm2 A T 3: 94,082,973 (GRCm39) C279* probably null Het
Srrm2 A G 17: 24,036,722 (GRCm39) probably benign Het
Sting1 A T 18: 35,868,290 (GRCm39) M270K probably damaging Het
Syne1 A G 10: 5,006,514 (GRCm39) W7980R probably damaging Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tmem171 A T 13: 98,828,851 (GRCm39) F100I probably damaging Het
Tnfrsf10b A G 14: 70,013,546 (GRCm39) T159A probably benign Het
Tph1 A T 7: 46,309,834 (GRCm39) probably null Het
Trim46 A T 3: 89,142,504 (GRCm39) I638N probably damaging Het
Ubl7 G A 9: 57,827,825 (GRCm39) D171N probably damaging Het
Utp20 A G 10: 88,608,779 (GRCm39) Y1514H probably damaging Het
Vmn2r81 A G 10: 79,129,334 (GRCm39) I742V probably damaging Het
Xrcc2 A T 5: 25,897,505 (GRCm39) V148E probably damaging Het
Zbed3 A G 13: 95,472,615 (GRCm39) D13G possibly damaging Het
Zdhhc25 T A 15: 88,484,962 (GRCm39) L99Q probably benign 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
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
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'- CCCGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTGGAAGGAACAGGCTCAAACC -3'

Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- CCACAGGGCTGTCTGTTC -3'
Posted On 2014-09-18