Incidental Mutation 'R9364:Sh2d4a'
ID 708844
Institutional Source Beutler Lab
Gene Symbol Sh2d4a
Ensembl Gene ENSMUSG00000053886
Gene Name SH2 domain containing 4A
Synonyms SH2A, 2210402M20Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9364 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 68729219-68800351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68747018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 82 (G82D)
Ref Sequence ENSEMBL: ENSMUSP00000070825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066594]
AlphaFold Q9D7V1
Predicted Effect probably damaging
Transcript: ENSMUST00000066594
AA Change: G82D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886
AA Change: G82D

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
SH2 313 396 2.5e-22 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Ccdc136 C T 6: 29,405,960 (GRCm39) A102V probably damaging Het
Ccn4 G A 15: 66,784,900 (GRCm39) R191K probably benign Het
Ccnyl1 A G 1: 64,753,750 (GRCm39) Y187C probably damaging Het
Copa G A 1: 171,944,831 (GRCm39) V882I probably benign Het
Cyp17a1 C T 19: 46,657,165 (GRCm39) R361H probably damaging Het
Ddx49 T C 8: 70,746,226 (GRCm39) T459A probably benign Het
Depdc5 A G 5: 33,122,076 (GRCm39) N1133S probably benign Het
Dnajc18 T C 18: 35,808,260 (GRCm39) D329G probably damaging Het
Dusp16 G A 6: 134,695,982 (GRCm39) P283L probably damaging Het
Efcab12 A G 6: 115,814,975 (GRCm39) V40A probably benign Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Fam120b G A 17: 15,626,020 (GRCm39) A458T possibly damaging Het
Fgd4 G A 16: 16,308,353 (GRCm39) T9I probably benign Het
Hivep1 G A 13: 42,308,251 (GRCm39) D164N possibly damaging Het
Klf13 T A 7: 63,574,609 (GRCm39) probably benign Het
Lrrc47 T C 4: 154,100,398 (GRCm39) S325P possibly damaging Het
Mast3 C T 8: 71,238,826 (GRCm39) V493M probably damaging Het
Med22 T C 2: 26,795,821 (GRCm39) T200A probably benign Het
Mettl15 T A 2: 108,961,960 (GRCm39) Q216H probably benign Het
Mmel1 A G 4: 154,976,967 (GRCm39) D561G probably null Het
Ms4a4a G A 19: 11,367,708 (GRCm39) M191I probably benign Het
Mtcl3 G A 10: 29,072,775 (GRCm39) R689Q probably damaging Het
Myh11 T A 16: 14,018,580 (GRCm39) N1922I Het
Myo7b T C 18: 32,133,413 (GRCm39) I371V probably benign Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neurod4 T C 10: 130,106,840 (GRCm39) T145A probably benign Het
Nfx1 T C 4: 41,023,756 (GRCm39) V1055A probably benign Het
Ntng1 C T 3: 110,042,680 (GRCm39) A49T probably damaging Het
Oc90 G A 15: 65,761,437 (GRCm39) P194S probably benign Het
Opcml A C 9: 28,814,624 (GRCm39) N292T probably damaging Het
Oplah A G 15: 76,193,787 (GRCm39) S57P probably benign Het
Or1x6 T A 11: 50,939,223 (GRCm39) Y96* probably null Het
Or2a12 T A 6: 42,904,534 (GRCm39) I123N probably damaging Het
Or2aj4 T A 16: 19,384,722 (GRCm39) I304F possibly damaging Het
Or8k3b A T 2: 86,520,575 (GRCm39) V248D possibly damaging Het
Pdzd8 A T 19: 59,333,574 (GRCm39) L149Q probably damaging Het
Pid1 A G 1: 84,137,032 (GRCm39) V33A probably benign Het
Prpsap1 A G 11: 116,385,015 (GRCm39) probably benign Het
R3hdml T C 2: 163,334,535 (GRCm39) W42R probably benign Het
Rnase6 A T 14: 51,367,862 (GRCm39) N85Y possibly damaging Het
Scn3a T A 2: 65,291,596 (GRCm39) M1717L possibly damaging Het
Setbp1 C T 18: 78,826,599 (GRCm39) S1338N probably benign Het
Sh2b2 T C 5: 136,253,006 (GRCm39) T389A probably benign Het
Skint9 A T 4: 112,248,915 (GRCm39) M171K probably benign Het
Slc5a11 C T 7: 122,868,324 (GRCm39) R505W probably damaging Het
Slx4 C A 16: 3,805,820 (GRCm39) M577I probably benign Het
Tarbp1 C T 8: 127,177,462 (GRCm39) V737I probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem100 A T 11: 89,926,533 (GRCm39) E120V probably damaging Het
Trim72 C T 7: 127,609,173 (GRCm39) T325M possibly damaging Het
Trpc2 G A 7: 101,739,819 (GRCm39) G581D possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubn1 T C 16: 4,888,492 (GRCm39) S154P unknown Het
Uchl1 T A 5: 66,833,649 (GRCm39) M6K probably damaging Het
Vmn1r193 A T 13: 22,403,989 (GRCm39) M1K probably null Het
Zfp429 T A 13: 67,538,531 (GRCm39) K304N probably benign Het
Zfp618 A G 4: 63,036,824 (GRCm39) N375D probably damaging Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp78 A T 7: 6,382,354 (GRCm39) D468V probably benign Het
Zfp809 A C 9: 22,150,394 (GRCm39) Y297S probably damaging Het
Other mutations in Sh2d4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Sh2d4a APN 8 68,782,018 (GRCm39) splice site probably null
R0078:Sh2d4a UTSW 8 68,734,973 (GRCm39) missense probably damaging 0.98
R0608:Sh2d4a UTSW 8 68,799,346 (GRCm39) missense possibly damaging 0.92
R0701:Sh2d4a UTSW 8 68,783,747 (GRCm39) missense probably damaging 1.00
R0924:Sh2d4a UTSW 8 68,787,775 (GRCm39) missense probably damaging 1.00
R0930:Sh2d4a UTSW 8 68,787,775 (GRCm39) missense probably damaging 1.00
R1690:Sh2d4a UTSW 8 68,747,101 (GRCm39) missense probably benign 0.00
R1744:Sh2d4a UTSW 8 68,783,807 (GRCm39) missense possibly damaging 0.93
R1864:Sh2d4a UTSW 8 68,781,967 (GRCm39) missense probably benign 0.38
R2011:Sh2d4a UTSW 8 68,799,394 (GRCm39) missense probably benign 0.02
R2014:Sh2d4a UTSW 8 68,783,735 (GRCm39) missense probably damaging 1.00
R2172:Sh2d4a UTSW 8 68,749,316 (GRCm39) missense probably benign 0.00
R4010:Sh2d4a UTSW 8 68,787,799 (GRCm39) missense probably damaging 1.00
R4542:Sh2d4a UTSW 8 68,799,394 (GRCm39) missense probably benign 0.01
R5522:Sh2d4a UTSW 8 68,749,349 (GRCm39) missense probably benign 0.38
R6627:Sh2d4a UTSW 8 68,746,970 (GRCm39) missense probably damaging 1.00
R7482:Sh2d4a UTSW 8 68,749,328 (GRCm39) missense probably benign
R7807:Sh2d4a UTSW 8 68,735,033 (GRCm39) missense probably benign 0.00
R7955:Sh2d4a UTSW 8 68,781,907 (GRCm39) missense probably benign 0.10
R8725:Sh2d4a UTSW 8 68,798,695 (GRCm39) missense probably damaging 1.00
R8727:Sh2d4a UTSW 8 68,798,695 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTGACTTGTGGGGTTCCC -3'
(R):5'- TGGTCTCTAACTGATGGAAAGG -3'

Sequencing Primer
(F):5'- GGTTCCCCACCAAGGATG -3'
(R):5'- CTTTAGGATGCCTCACACTAGGG -3'
Posted On 2022-04-18