Incidental Mutation 'RF007:Gab3'
ID 602956
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 # RF007 (G1)
Quality Score 166.468
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) TTC to TTCATC at 74043631 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: 99.2%
  • 20x: 98.2%
Validation Efficiency 97% (73/75)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,661,401 (GRCm39) S933T probably benign Het
Adgrl2 G A 3: 148,544,884 (GRCm39) T737I probably damaging Het
Adra2c T A 5: 35,438,386 (GRCm39) V386E probably damaging Het
Agbl5 C A 5: 31,060,589 (GRCm39) T761N unknown Het
Ahnak T A 19: 8,990,965 (GRCm39) M4083K possibly damaging Het
Aldh1l1 A T 6: 90,575,241 (GRCm39) I843F probably damaging Het
Ankhd1 GGCGGC GGCGGCTGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Arid1b GCG GCGCCG 17: 5,045,869 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,650,609 (GRCm39) probably null Het
Blm C CTCCTCCTCCTAG 7: 80,162,681 (GRCm39) probably null Het
Btg3 A G 16: 78,129,836 (GRCm39) *52W probably null Het
Cc2d1a T C 8: 84,861,298 (GRCm39) T796A probably damaging Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Cenpj A G 14: 56,767,505 (GRCm39) probably null Het
Cfap251 G GGAT 5: 123,392,317 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,578 (GRCm39) T2108A possibly damaging Het
Cherp TGGAGCG T 8: 73,215,903 (GRCm39) probably benign Het
Cnot11 T C 1: 39,581,575 (GRCm39) V372A probably damaging Het
Cntnap5b T C 1: 100,091,795 (GRCm39) C179R probably damaging Het
Cntrl T A 2: 35,060,512 (GRCm39) N1901K probably benign Het
Coil CTGG C 11: 88,872,656 (GRCm39) probably benign Het
Col1a1 A G 11: 94,833,866 (GRCm39) D488G probably damaging Het
Coro1a T C 7: 126,301,024 (GRCm39) H130R probably damaging Het
Crybg3 A C 16: 59,377,067 (GRCm39) S1396A possibly damaging Het
Csf2rb2 A G 15: 78,176,126 (GRCm39) I259T probably benign Het
Cyp1a2 G T 9: 57,589,253 (GRCm39) P187Q probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dcun1d3 T C 7: 119,458,726 (GRCm39) E103G possibly damaging Het
Dmkn T A 7: 30,469,129 (GRCm39) probably null Het
Dna2 T C 10: 62,802,474 (GRCm39) L864P probably damaging Het
Dnah14 T A 1: 181,513,374 (GRCm39) M1909K probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Ecrg4 TTCTGTA T 1: 43,776,352 (GRCm39) probably benign Het
Efna5 T C 17: 62,920,389 (GRCm39) S163G probably benign Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Ercc4 C T 16: 12,941,371 (GRCm39) S253L possibly damaging Het
Flywch1 ACCCA ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA 17: 23,981,138 (GRCm39) probably null Het
Flywch1 CCTGGTGT CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT 17: 23,981,145 (GRCm39) probably null Het
Folh1 T C 7: 86,424,895 (GRCm39) T25A probably benign Het
Foxi3 C A 6: 70,937,845 (GRCm39) T359K possibly damaging Het
Gba2 G T 4: 43,569,894 (GRCm39) L440M probably damaging Het
Gm14412 T A 2: 177,007,494 (GRCm39) N134Y possibly damaging Het
Gpr88 A G 3: 116,046,018 (GRCm39) S98P probably benign Het
Il1r1 A G 1: 40,352,438 (GRCm39) Y539C probably damaging Het
Iqcf4 TTTCCTTTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT 9: 106,447,808 (GRCm39) probably benign Het
Lce1m CTGCT CTGCTTCCACTGTTGCT 3: 92,925,451 (GRCm39) probably benign Het
Lkaaear1 CAGCTCCAGCTCCAGCTCCAGCTC CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC 2: 181,339,370 (GRCm39) probably benign Het
Lkaaear1 T TATCTCCAGCTCC 2: 181,339,352 (GRCm39) probably benign Het
Ltb4r1 T A 14: 56,005,426 (GRCm39) L243Q possibly damaging Het
Man2a1 T A 17: 65,019,248 (GRCm39) V704D probably damaging Het
Map1a CTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA 2: 121,136,789 (GRCm39) probably benign Het
Mcu G T 10: 59,326,938 (GRCm39) A63E probably benign Het
Mrps31 A T 8: 22,909,880 (GRCm39) D182V possibly damaging Het
Mslnl T A 17: 25,962,202 (GRCm39) V200E possibly damaging Het
Naip1 A T 13: 100,562,642 (GRCm39) M841K probably benign Het
Ndufab1 T C 7: 121,695,861 (GRCm39) K88E possibly damaging Het
Nlrp5 A C 7: 23,117,586 (GRCm39) I437L probably benign Het
Nnt C T 13: 119,533,393 (GRCm39) V91M probably damaging Het
Nusap1 TACACGTTAGCAGTGAGGAGCAAGCTGAGA TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,062 (GRCm39) probably benign Het
Nynrin T G 14: 56,103,658 (GRCm39) probably null Het
Or12k5 T G 2: 36,895,186 (GRCm39) T147P probably damaging Het
Or5ak22 C A 2: 85,230,137 (GRCm39) A247S probably damaging Het
Or6c204 T A 10: 129,022,562 (GRCm39) I243F probably damaging Het
Osbpl8 A G 10: 111,112,328 (GRCm39) K481R possibly damaging Het
Padi6 T C 4: 140,457,054 (GRCm39) D540G probably damaging Het
Pcmtd1 T C 1: 7,225,329 (GRCm39) probably benign Het
Pdik1l TTTTTGTTTT TTTTTGTTTTGGTTTTGTTTT 4: 134,006,679 (GRCm39) probably null Het
Phospho1 T C 11: 95,721,881 (GRCm39) Y184H probably damaging Het
Pi4ka T A 16: 17,115,097 (GRCm39) R1431W Het
Plxdc1 T A 11: 97,869,504 (GRCm39) H28L probably benign Het
Pnma8a ACCTCATGATGCACCTGCTTCAACA ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA 7: 16,695,349 (GRCm39) probably benign Het
Ppp1r7 T C 1: 93,274,011 (GRCm39) probably null Het
Ppp1r9a T A 6: 4,906,657 (GRCm39) V404E probably damaging Het
Scfd1 T A 12: 51,469,756 (GRCm39) S434T probably benign Het
Six5 A G 7: 18,828,862 (GRCm39) S101G probably benign Het
Slc6a4 C A 11: 76,910,008 (GRCm39) T421K probably damaging Het
Smarcd3 C A 5: 24,801,068 (GRCm39) R113L probably damaging Het
Son T A 16: 91,456,257 (GRCm39) M1668K possibly damaging Het
Spmap2l CTCCCCAGTCCCGCAAGGCCAG CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG 5: 77,164,255 (GRCm39) probably benign Het
Tcf25 A G 8: 124,122,369 (GRCm39) D434G probably benign Het
Tcof1 CCAGAGATCCCC CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC 18: 60,966,640 (GRCm39) probably benign Het
Tep1 A G 14: 51,098,402 (GRCm39) V463A possibly damaging Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim24 A G 6: 37,930,471 (GRCm39) K642E possibly damaging Het
Trim33 GGCCCCCGC GGC 3: 103,187,533 (GRCm39) probably benign Het
Triobp CTCCCTGTGCCCAACGG CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG 15: 78,851,244 (GRCm39) probably benign Het
Trmu G T 15: 85,776,770 (GRCm39) V161L possibly damaging Het
Try4 T A 6: 41,282,297 (GRCm39) C206S probably damaging Het
Usp2 TTCACTTAC TTCACTTACTCATGTGACCTGTTCGTCACTTAC 9: 44,000,418 (GRCm39) probably benign Het
Vmn1r62 A T 7: 5,678,669 (GRCm39) M117L probably benign Het
Vmn2r104 A T 17: 20,268,302 (GRCm39) Y56N probably benign Het
Xxylt1 C T 16: 30,869,498 (GRCm39) D201N possibly damaging Het
Zfp563 T A 17: 33,323,999 (GRCm39) I198K probably benign Het
Zfp612 T A 8: 110,816,174 (GRCm39) C460* probably null Het
Zfp691 G A 4: 119,027,932 (GRCm39) T100M probably benign Het
Zfp773 A T 7: 7,135,689 (GRCm39) C302* probably null Het
Zmat2 A G 18: 36,930,936 (GRCm39) E154G probably damaging Het
Zw10 T A 9: 48,972,220 (GRCm39) I132N possibly damaging 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 74,043,617 (GRCm39) small insertion probably benign
RF007:Gab3 UTSW X 74,043,602 (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'- AGCCATTCTTTATGACTGCACAC -3'
(R):5'- CTTGGGCCAAAAGGAAGTTGTG -3'

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