Incidental Mutation 'IGL03325:Sh2d3c'
ID416628
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 #IGL03325
Quality Score
Status
Chromosome2
Chromosomal Location32721055-32755512 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32725258 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 120 (A120V)
Ref Sequence ENSEMBL: ENSMUSP00000073866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074248] [ENSMUST00000113242]
Predicted Effect probably benign
Transcript: ENSMUST00000074248
AA Change: A120V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: A120V

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 benign
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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik A T 14: 49,243,820 probably benign Het
4930435E12Rik A T 16: 38,827,993 S251R probably damaging Het
Abca8b G A 11: 109,953,596 R870C possibly damaging Het
Abcf2 A T 5: 24,574,212 L113I probably damaging Het
Abi1 C T 2: 22,971,228 R106Q probably damaging Het
Arhgef28 A G 13: 97,899,816 V1645A probably benign Het
Ceacam1 G A 7: 25,476,487 A94V possibly damaging Het
Fat2 G A 11: 55,282,342 T2515I probably damaging Het
Gm4951 T A 18: 60,245,811 Y139* probably null Het
Gm5800 T C 14: 51,714,526 Y93C probably benign Het
Gnl1 A G 17: 35,988,656 D573G probably damaging Het
Gosr1 A G 11: 76,754,403 M105T probably benign Het
Gramd1c A T 16: 44,005,505 Y303N probably benign Het
Heatr9 A G 11: 83,513,259 probably null Het
Itih2 T C 2: 10,106,735 D464G probably damaging Het
Jcad T C 18: 4,673,902 Y555H probably benign Het
Krtap19-3 A T 16: 88,877,721 *88R probably null Het
Mrps11 T C 7: 78,790,705 F114S probably damaging Het
Nat8 A T 6: 85,830,893 V86E possibly damaging Het
Nek5 T C 8: 22,079,142 T555A probably benign Het
Olfr788 A T 10: 129,473,605 K304N probably benign Het
Pprc1 C T 19: 46,061,509 T10I possibly damaging Het
Prss16 A G 13: 22,003,247 V409A possibly damaging Het
Sema3d T A 5: 12,463,222 L53Q probably damaging Het
Sfmbt2 T C 2: 10,577,817 Y696H probably damaging Het
Smn1 A G 13: 100,127,857 Y32C probably damaging Het
Sun2 C T 15: 79,738,648 R110Q probably benign Het
Tcp11l2 T G 10: 84,604,900 D323E possibly damaging Het
Tnni3k A T 3: 154,961,814 S296R probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Unc79 T A 12: 103,169,610 S2435T probably damaging Het
Vmn2r114 C A 17: 23,291,678 K609N probably damaging Het
Other mutations in Sh2d3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Sh2d3c APN 2 32725084 missense probably benign 0.00
IGL02326:Sh2d3c APN 2 32749151 critical splice acceptor site probably null
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
Posted On2016-08-02