Incidental Mutation 'IGL01536:Shc3'
ID89962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shc3
Ensembl Gene ENSMUSG00000021448
Gene Namesrc homology 2 domain-containing transforming protein C3
SynonymsRai, ShcC, N-Shc
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01536
Quality Score
Status
Chromosome13
Chromosomal Location51431041-51569419 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 51516559 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 51 (S51A)
Ref Sequence ENSEMBL: ENSMUSP00000152080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021898] [ENSMUST00000223543]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021898
AA Change: S51A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021898
Gene: ENSMUSG00000021448
AA Change: S51A

DomainStartEndE-ValueType
PTB 30 194 5.36e-41 SMART
SH2 377 456 6.38e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223543
AA Change: S51A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 probably null Het
Other mutations in Shc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Shc3 APN 13 51461343 missense probably damaging 0.98
IGL00914:Shc3 APN 13 51480227 splice site probably benign
IGL01417:Shc3 APN 13 51431164 missense probably benign 0.10
Massless UTSW 13 51442973 missense possibly damaging 0.92
Singularity UTSW 13 51442820 intron probably null
R0499:Shc3 UTSW 13 51480228 splice site probably benign
R0941:Shc3 UTSW 13 51480206 missense probably benign
R1652:Shc3 UTSW 13 51472839 missense probably damaging 0.99
R1739:Shc3 UTSW 13 51482916 missense probably damaging 0.97
R1750:Shc3 UTSW 13 51449292 missense probably damaging 1.00
R1817:Shc3 UTSW 13 51472852 missense possibly damaging 0.93
R1848:Shc3 UTSW 13 51461388 missense probably damaging 1.00
R1991:Shc3 UTSW 13 51442836 missense probably benign 0.01
R2103:Shc3 UTSW 13 51442836 missense probably benign 0.01
R4426:Shc3 UTSW 13 51480094 splice site probably null
R4434:Shc3 UTSW 13 51449266 missense probably benign 0.00
R4823:Shc3 UTSW 13 51451570 missense probably benign
R4933:Shc3 UTSW 13 51442769 missense probably benign 0.03
R4998:Shc3 UTSW 13 51442820 intron probably null
R5153:Shc3 UTSW 13 51461377 missense probably damaging 1.00
R5200:Shc3 UTSW 13 51516565 missense probably damaging 1.00
R5659:Shc3 UTSW 13 51516594 missense probably damaging 1.00
R6035:Shc3 UTSW 13 51461432 missense probably damaging 1.00
R6035:Shc3 UTSW 13 51461432 missense probably damaging 1.00
R6346:Shc3 UTSW 13 51451615 missense possibly damaging 0.93
R6434:Shc3 UTSW 13 51449290 missense probably damaging 1.00
R6457:Shc3 UTSW 13 51482879 splice site probably null
R6580:Shc3 UTSW 13 51442773 missense probably benign
R6597:Shc3 UTSW 13 51442973 missense possibly damaging 0.92
R6906:Shc3 UTSW 13 51466559 missense probably damaging 0.97
R7003:Shc3 UTSW 13 51466552 missense probably benign 0.14
R7104:Shc3 UTSW 13 51431205 missense possibly damaging 0.89
R7420:Shc3 UTSW 13 51431235 missense probably benign 0.02
R7476:Shc3 UTSW 13 51448006 missense probably benign
Posted On2013-12-03