Incidental Mutation 'IGL01361:Sh3yl1'
ID75763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3yl1
Ensembl Gene ENSMUSG00000020669
Gene NameSh3 domain YSC-like 1
SynonymsYSC84, Ray
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01361
Quality Score
Status
Chromosome12
Chromosomal Location30911668-30960162 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 30939564 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020997] [ENSMUST00000110880]
Predicted Effect probably benign
Transcript: ENSMUST00000020997
SMART Domains Protein: ENSMUSP00000020997
Gene: ENSMUSG00000020669

DomainStartEndE-ValueType
Pfam:Ysc84 86 209 1.9e-42 PFAM
SH3 284 340 9.6e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110880
SMART Domains Protein: ENSMUSP00000106504
Gene: ENSMUSG00000020669

DomainStartEndE-ValueType
Pfam:DUF500 47 172 2.9e-44 PFAM
SH3 246 302 9.6e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142693
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Sh3yl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Sh3yl1 APN 12 30942877 splice site probably benign
IGL02448:Sh3yl1 APN 12 30939667 missense probably damaging 0.99
IGL03181:Sh3yl1 APN 12 30941980 missense possibly damaging 0.74
IGL03381:Sh3yl1 APN 12 30926837 missense possibly damaging 0.94
R1954:Sh3yl1 UTSW 12 30922333 missense possibly damaging 0.57
R1955:Sh3yl1 UTSW 12 30922333 missense possibly damaging 0.57
R1956:Sh3yl1 UTSW 12 30942788 critical splice acceptor site probably null
R1957:Sh3yl1 UTSW 12 30942788 critical splice acceptor site probably null
R2248:Sh3yl1 UTSW 12 30942870 critical splice donor site probably null
R3430:Sh3yl1 UTSW 12 30959842 missense probably benign 0.00
R4776:Sh3yl1 UTSW 12 30940314 missense probably damaging 1.00
R5505:Sh3yl1 UTSW 12 30942073 missense probably damaging 1.00
R6152:Sh3yl1 UTSW 12 30942035 missense probably benign 0.01
R7075:Sh3yl1 UTSW 12 30940166 intron probably null
Posted On2013-10-07