Incidental Mutation 'R0924:Sh2d4a'
ID83087
Institutional Source Beutler Lab
Gene Symbol Sh2d4a
Ensembl Gene ENSMUSG00000053886
Gene NameSH2 domain containing 4A
SynonymsSH2A, 2210402M20Rik
MMRRC Submission 039071-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0924 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location68276567-68347699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68335123 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 294 (F294I)
Ref Sequence ENSEMBL: ENSMUSP00000070825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066594]
Predicted Effect probably damaging
Transcript: ENSMUST00000066594
AA Change: F294I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886
AA Change: F294I

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
SH2 313 396 2.5e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000212166
AA Change: F268I
Meta Mutation Damage Score 0.5 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,251,070 probably benign Het
9530053A07Rik A T 7: 28,140,130 Y456F probably damaging Het
Adamts18 A T 8: 113,705,396 probably null Het
Ahcyl2 A C 6: 29,870,628 probably null Het
Ajap1 T A 4: 153,386,472 I293F probably damaging Het
Akap10 T C 11: 61,904,863 probably benign Het
Aldh3b2 T C 19: 3,979,350 V241A probably benign Het
Anxa6 A T 11: 54,994,388 probably null Het
Atpaf1 T A 4: 115,795,438 V12D probably damaging Het
Aurkb C A 11: 69,045,996 Y12* probably null Het
Bicdl1 A G 5: 115,661,528 probably benign Het
Bnc1 A T 7: 81,978,408 probably benign Het
Bpi A G 2: 158,261,426 I114V possibly damaging Het
Cacna1c A T 6: 118,675,896 I772N probably damaging Het
Cacna2d1 A G 5: 16,365,862 N1045D possibly damaging Het
Ccrl2 A G 9: 111,055,968 V154A probably benign Het
Celsr3 C A 9: 108,846,025 Q2831K possibly damaging Het
Cul3 A T 1: 80,290,118 M102K probably damaging Het
Cwf19l2 T C 9: 3,441,047 probably benign Het
Dlg5 G A 14: 24,135,577 P1920L probably damaging Het
Dnah2 T C 11: 69,421,308 H4393R probably damaging Het
Eif2b3 T A 4: 117,081,578 V408D possibly damaging Het
Eml3 T C 19: 8,933,311 probably null Het
Enpp2 T C 15: 54,906,959 probably benign Het
Gm14178 T A 11: 99,747,500 T18S Het
H2-Bl A T 17: 36,083,932 V33E probably damaging Het
H2-M11 A G 17: 36,549,214 M324V probably benign Het
Hdac10 T C 15: 89,125,862 T298A probably benign Het
Hepacam A C 9: 37,383,928 probably benign Het
Hist1h2bk G A 13: 22,036,040 D52N probably damaging Het
Hmx3 A T 7: 131,543,084 H41L probably benign Het
Ifi27l2a A G 12: 103,442,380 V68A probably damaging Het
Itga11 A G 9: 62,776,674 E1079G probably benign Het
Krt6a T C 15: 101,690,800 probably benign Het
L1td1 A G 4: 98,737,625 N686D probably damaging Het
Lrrtm2 G A 18: 35,213,755 R165C probably damaging Het
Macf1 G T 4: 123,385,478 A3910E probably damaging Het
Muc5ac A T 7: 141,807,515 Y1521F possibly damaging Het
Myo7a A T 7: 98,098,256 I129N probably damaging Het
Ncam1 A T 9: 49,562,176 probably benign Het
Nckap1 A T 2: 80,554,249 C114S probably benign Het
Nf1 T G 11: 79,453,866 W1260G probably damaging Het
Olfr1415 A G 1: 92,491,405 S117P possibly damaging Het
Olfr411 T C 11: 74,346,798 Y262C probably damaging Het
Olfr813 A T 10: 129,856,646 I43F probably damaging Het
Oxtr A T 6: 112,489,637 probably null Het
Pabpc4 C T 4: 123,294,665 R356C possibly damaging Het
Pcbp2 T A 15: 102,489,762 D182E probably damaging Het
Pgm1 A T 5: 64,112,147 I526F possibly damaging Het
Rab43 A T 6: 87,792,770 Y151* probably null Het
Rbm19 A G 5: 120,126,204 E343G probably benign Het
Rel A T 11: 23,742,439 D531E probably benign Het
Rfx4 T A 10: 84,868,427 V262E probably damaging Het
Rnf31 T C 14: 55,593,002 probably benign Het
Robo3 T A 9: 37,429,482 probably benign Het
Ryr3 A G 2: 112,841,833 L1431P probably damaging Het
Sema3d A C 5: 12,463,216 D51A possibly damaging Het
Sema6a A G 18: 47,248,492 L996P probably damaging Het
Sorl1 T A 9: 42,008,174 probably benign Het
Sox1ot G T 8: 12,430,455 noncoding transcript Het
Spsb3 A T 17: 24,891,384 N395I probably damaging Het
Sptan1 A G 2: 30,016,028 N1662S probably damaging Het
Srd5a2 G T 17: 74,024,521 N160K probably damaging Het
Tmem132d G A 5: 127,984,439 probably benign Het
Tmem173 A G 18: 35,735,101 probably null Het
Unc80 A T 1: 66,510,641 Q686L possibly damaging Het
Vmn2r93 A G 17: 18,304,181 T146A probably benign Het
Wdr19 A G 5: 65,256,439 probably benign Het
Zfp646 C T 7: 127,883,810 Q1500* probably null Het
Zfp683 T C 4: 134,055,827 Y201H probably benign Het
Other mutations in Sh2d4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Sh2d4a APN 8 68329366 splice site probably null
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
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
Predicted Primers
Posted On2013-11-08