Incidental Mutation 'IGL00807:Sh2d4a'
ID14006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d4a
Ensembl Gene ENSMUSG00000053886
Gene NameSH2 domain containing 4A
SynonymsSH2A, 2210402M20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00807
Quality Score
Status
Chromosome8
Chromosomal Location68276567-68347699 bp(+) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to C at 68329366 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066594]
Predicted Effect probably null
Transcript: ENSMUST00000066594
SMART Domains Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
SH2 313 396 2.5e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000212166
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display normal T cell development, homeostasis, proliferation, and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,378,285 T3453S probably benign Het
Ahnak T A 19: 9,008,522 V2390E possibly damaging Het
Aldh8a1 A T 10: 21,395,430 I352F probably damaging Het
Ccnt2 T C 1: 127,797,891 probably benign Het
Ccr1l1 A T 9: 123,977,469 W314R probably benign Het
Cdc42bpa A G 1: 180,141,453 I1218V possibly damaging Het
Dlc1 G A 8: 36,572,848 T1386I probably benign Het
Frs2 A C 10: 117,074,886 probably benign Het
Gm4951 C T 18: 60,245,411 S6F probably damaging Het
Gria1 T C 11: 57,012,040 Y3H probably benign Het
Ints2 T C 11: 86,233,135 N609S probably damaging Het
Lyst T A 13: 13,650,423 M1541K possibly damaging Het
Mmachc A T 4: 116,705,921 V79E probably damaging Het
Nfe2l2 T C 2: 75,679,413 D21G probably damaging Het
Pde2a G A 7: 101,504,412 V436M probably damaging Het
Rhot1 C T 11: 80,226,102 H101Y probably benign Het
Taar2 A G 10: 23,940,675 M38V probably benign Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Znrd1as G T 17: 36,964,921 A132S probably damaging Het
Other mutations in Sh2d4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0078:Sh2d4a UTSW 8 68282321 missense probably damaging 0.98
R0608:Sh2d4a UTSW 8 68346694 missense possibly damaging 0.92
R0701:Sh2d4a UTSW 8 68331095 missense probably damaging 1.00
R0924:Sh2d4a UTSW 8 68335123 missense probably damaging 1.00
R0930:Sh2d4a UTSW 8 68335123 missense probably damaging 1.00
R1690:Sh2d4a UTSW 8 68294449 missense probably benign 0.00
R1744:Sh2d4a UTSW 8 68331155 missense possibly damaging 0.93
R1864:Sh2d4a UTSW 8 68329315 missense probably benign 0.38
R2011:Sh2d4a UTSW 8 68346742 missense probably benign 0.02
R2014:Sh2d4a UTSW 8 68331083 missense probably damaging 1.00
R2172:Sh2d4a UTSW 8 68296664 missense probably benign 0.00
R4010:Sh2d4a UTSW 8 68335147 missense probably damaging 1.00
R4542:Sh2d4a UTSW 8 68346742 missense probably benign 0.01
R5522:Sh2d4a UTSW 8 68296697 missense probably benign 0.38
R6627:Sh2d4a UTSW 8 68294318 missense probably damaging 1.00
R7482:Sh2d4a UTSW 8 68296676 missense probably benign
R7807:Sh2d4a UTSW 8 68282381 missense probably benign 0.00
Posted On2012-12-06