Incidental Mutation 'IGL02326:Sh2d3c'
ID288502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d3c
Ensembl Gene ENSMUSG00000059013
Gene NameSH2 domain containing 3C
SynonymsChat, Cas/HEF1-associated signal transducer, Nsp3, Shep1, SH2-containing Eph receptor-binding protein 1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02326
Quality Score
Status
Chromosome2
Chromosomal Location32721055-32755512 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 32749151 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074248] [ENSMUST00000113242]
Predicted Effect probably null
Transcript: ENSMUST00000074248
SMART Domains Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
low complexity region 22 43 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
low complexity region 190 207 N/A INTRINSIC
SH2 213 301 7.8e-21 SMART
low complexity region 333 348 N/A INTRINSIC
low complexity region 400 415 N/A INTRINSIC
low complexity region 422 436 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
RasGEF 576 849 8.18e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113242
SMART Domains Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
SH2 61 149 7.8e-21 SMART
low complexity region 181 196 N/A INTRINSIC
low complexity region 248 263 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
low complexity region 322 335 N/A INTRINSIC
RasGEF 424 697 8.18e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131101
SMART Domains Protein: ENSMUSP00000122613
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 37 54 N/A INTRINSIC
SH2 60 148 7.8e-21 SMART
low complexity region 180 195 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,671,402 V29A unknown Het
Abcc8 C A 7: 46,122,857 probably null Het
Ankar A T 1: 72,666,355 I614N probably damaging Het
Ash1l G A 3: 88,966,057 R49H probably benign Het
Atp8b1 T C 18: 64,538,583 H1123R probably damaging Het
Casp12 T C 9: 5,358,317 Y375H possibly damaging Het
Cbl A G 9: 44,151,473 I861T possibly damaging Het
Cdh20 T C 1: 104,975,039 L485P probably damaging Het
Cobl A T 11: 12,386,712 N25K possibly damaging Het
Col14a1 T C 15: 55,418,797 V818A unknown Het
Csmd3 G A 15: 47,755,963 probably benign Het
Dpp6 A G 5: 27,664,757 Y509C probably damaging Het
Fabp2 C T 3: 122,898,746 R96C probably damaging Het
Fam53a T C 5: 33,600,594 D395G probably damaging Het
Gabrb1 T A 5: 71,700,847 I72K probably damaging Het
Hmcn2 G A 2: 31,450,952 S4479N probably damaging Het
Hrnr C T 3: 93,323,745 T430I unknown Het
Ighv1-53 T A 12: 115,158,615 T47S probably benign Het
Ilk C A 7: 105,741,633 P261Q probably damaging Het
Ints10 T G 8: 68,804,833 D228E probably damaging Het
Kcnq5 A T 1: 21,402,592 S782R probably benign Het
Map3k4 A G 17: 12,249,010 S1046P probably damaging Het
Musk C T 4: 58,354,113 P374S probably benign Het
Olfr1106 G A 2: 87,049,011 S75L possibly damaging Het
Olfr1152 T A 2: 87,868,675 I228N probably damaging Het
Olfr1462 C A 19: 13,191,415 Y249* probably null Het
Olfr670 T A 7: 104,960,646 I29F probably benign Het
Pkd2 T C 5: 104,477,075 Y246H probably benign Het
Plekha5 G T 6: 140,583,850 G340* probably null Het
Plxna4 T A 6: 32,152,905 M1828L probably damaging Het
Prex1 A G 2: 166,621,185 I252T probably benign Het
Pura A G 18: 36,287,778 D206G probably damaging Het
Rad54b T A 4: 11,612,713 F782I probably damaging Het
Rbp4 T C 19: 38,124,115 D90G probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scn7a C A 2: 66,700,048 R651L probably benign Het
Slc43a1 T G 2: 84,849,771 L87R probably damaging Het
Sppl2c A G 11: 104,187,273 T300A probably benign Het
Srgap2 T A 1: 131,356,907 probably null Het
Tkt G A 14: 30,572,225 V531M probably damaging Het
Twsg1 T C 17: 65,926,436 D173G possibly damaging Het
Ugt2b37 G T 5: 87,241,002 H451N probably benign Het
Ugt2b38 C T 5: 87,423,733 D147N probably damaging Het
Vmn1r15 T C 6: 57,258,270 I41T probably benign Het
Vwa5a A T 9: 38,737,956 T667S probably benign Het
Xrn2 A G 2: 147,047,713 E672G probably benign Het
Zfp235 T A 7: 24,135,302 M1K probably null Het
Zmym1 T C 4: 127,047,760 E847G probably damaging Het
Other mutations in Sh2d3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Sh2d3c APN 2 32725084 missense probably benign 0.00
IGL03325:Sh2d3c APN 2 32725258 missense probably benign 0.00
R0008:Sh2d3c UTSW 2 32753021 missense probably damaging 1.00
R0564:Sh2d3c UTSW 2 32753052 missense probably damaging 0.99
R0619:Sh2d3c UTSW 2 32753025 missense probably damaging 1.00
R1138:Sh2d3c UTSW 2 32749405 missense probably benign 0.00
R1984:Sh2d3c UTSW 2 32749244 nonsense probably null
R3808:Sh2d3c UTSW 2 32746096 missense probably damaging 1.00
R4399:Sh2d3c UTSW 2 32746160 missense probably damaging 0.97
R4556:Sh2d3c UTSW 2 32753009 missense possibly damaging 0.81
R4840:Sh2d3c UTSW 2 32721160 start codon destroyed probably null 0.02
R5027:Sh2d3c UTSW 2 32744802 missense possibly damaging 0.95
R5367:Sh2d3c UTSW 2 32745902 missense probably damaging 1.00
R6754:Sh2d3c UTSW 2 32754530 missense probably damaging 1.00
R6916:Sh2d3c UTSW 2 32752653 nonsense probably null
R7029:Sh2d3c UTSW 2 32754569 makesense probably null
R7047:Sh2d3c UTSW 2 32721160 start codon destroyed probably null 0.02
R7636:Sh2d3c UTSW 2 32725011 missense probably benign 0.17
R7893:Sh2d3c UTSW 2 32749376 nonsense probably null
R7976:Sh2d3c UTSW 2 32749376 nonsense probably null
Posted On2015-04-16