Incidental Mutation 'IGL02149:Shc2'
ID281893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shc2
Ensembl Gene ENSMUSG00000020312
Gene NameSHC (Src homology 2 domain containing) transforming protein 2
SynonymsShcB, Sli
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02149
Quality Score
Status
Chromosome10
Chromosomal Location79618051-79637918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79622268 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 527 (D527G)
Ref Sequence ENSEMBL: ENSMUSP00000020564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020564]
Predicted Effect probably damaging
Transcript: ENSMUST00000020564
AA Change: D527G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: D527G

DomainStartEndE-ValueType
PTB 1 154 4.43e-24 SMART
low complexity region 172 178 N/A INTRINSIC
SH2 341 420 5.81e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163867
AA Change: D527G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: D527G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 67 85 N/A INTRINSIC
PTB 126 289 7.41e-35 SMART
low complexity region 307 313 N/A INTRINSIC
SH2 476 555 5.81e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168116
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,703,431 H67L probably damaging Het
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
Aebp2 C T 6: 140,642,284 A360V probably benign Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
B430306N03Rik T C 17: 48,316,992 V107A probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxo11 T A 17: 87,993,759 R775S possibly damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Prkaa2 A T 4: 105,040,088 N309K probably benign Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign Het
Other mutations in Shc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Shc2 APN 10 79621069 missense probably damaging 1.00
IGL01586:Shc2 APN 10 79622304 missense probably damaging 0.99
IGL01965:Shc2 APN 10 79627189 splice site probably benign
IGL02252:Shc2 APN 10 79626370 missense probably benign 0.00
shrine UTSW 10 79629917 missense probably damaging 0.99
R0538:Shc2 UTSW 10 79630140 splice site probably benign
R0630:Shc2 UTSW 10 79626141 unclassified probably null
R0894:Shc2 UTSW 10 79629917 missense probably damaging 0.99
R1166:Shc2 UTSW 10 79621112 missense probably damaging 1.00
R1339:Shc2 UTSW 10 79626416 missense probably benign 0.00
R1465:Shc2 UTSW 10 79631302 missense probably damaging 1.00
R1465:Shc2 UTSW 10 79631302 missense probably damaging 1.00
R1647:Shc2 UTSW 10 79626111 missense probably benign
R1648:Shc2 UTSW 10 79626111 missense probably benign
R1959:Shc2 UTSW 10 79626791 unclassified probably null
R3800:Shc2 UTSW 10 79626873 missense probably benign 0.40
R4603:Shc2 UTSW 10 79623856 missense probably benign 0.03
R4635:Shc2 UTSW 10 79626286 missense probably benign 0.35
R4656:Shc2 UTSW 10 79621169 missense probably damaging 1.00
R4715:Shc2 UTSW 10 79622379 missense probably benign 0.01
R4841:Shc2 UTSW 10 79622461 missense probably damaging 0.98
R4842:Shc2 UTSW 10 79622461 missense probably damaging 0.98
R5057:Shc2 UTSW 10 79623872 missense probably benign 0.01
R5394:Shc2 UTSW 10 79630099 missense probably damaging 1.00
R6153:Shc2 UTSW 10 79629918 missense possibly damaging 0.90
R6160:Shc2 UTSW 10 79627019 critical splice donor site probably null
R6178:Shc2 UTSW 10 79630120 missense probably damaging 1.00
Posted On2015-04-16