Incidental Mutation 'IGL02963:Sh2d6'
ID 365430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d6
Ensembl Gene ENSMUSG00000052631
Gene Name SH2 domain containing 6
Synonyms 4933424C13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02963
Quality Score
Status
Chromosome 6
Chromosomal Location 72490624-72498690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72494584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 96 (V96I)
Ref Sequence ENSEMBL: ENSMUSP00000087117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089687
AA Change: V96I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631
AA Change: V96I

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
SH2 184 276 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159577
Predicted Effect probably benign
Transcript: ENSMUST00000159877
AA Change: V50I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631
AA Change: V50I

DomainStartEndE-ValueType
low complexity region 117 130 N/A INTRINSIC
SH2 138 230 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160761
Predicted Effect probably benign
Transcript: ENSMUST00000162561
AA Change: V123I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: V123I

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 190 203 N/A INTRINSIC
SH2 211 303 3.15e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown Het
Other mutations in Sh2d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Sh2d6 APN 6 72,496,812 (GRCm39) missense probably benign
IGL01386:Sh2d6 APN 6 72,495,945 (GRCm39) missense probably benign 0.04
IGL02058:Sh2d6 APN 6 72,490,961 (GRCm39) nonsense probably null
IGL02950:Sh2d6 APN 6 72,492,285 (GRCm39) missense probably damaging 1.00
R1981:Sh2d6 UTSW 6 72,494,527 (GRCm39) splice site probably benign
R2304:Sh2d6 UTSW 6 72,497,542 (GRCm39) missense probably damaging 1.00
R4520:Sh2d6 UTSW 6 72,495,936 (GRCm39) missense possibly damaging 0.48
R4793:Sh2d6 UTSW 6 72,494,581 (GRCm39) missense probably benign
R5079:Sh2d6 UTSW 6 72,496,833 (GRCm39) missense probably benign 0.02
R7424:Sh2d6 UTSW 6 72,494,147 (GRCm39) missense probably benign 0.05
R9045:Sh2d6 UTSW 6 72,492,604 (GRCm39) missense probably benign 0.22
R9246:Sh2d6 UTSW 6 72,497,594 (GRCm39) nonsense probably null
RF013:Sh2d6 UTSW 6 72,493,371 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18