Incidental Mutation 'IGL00950:Sharpin'
ID29080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sharpin
Ensembl Gene ENSMUSG00000022552
Gene NameSHANK-associated RH domain interacting protein
SynonymsSIPL1, 0610041B22Rik, cpdm
Accession Numbers

VEGA: OTTMUST00000057935; MGI: 1913331

Is this an essential gene? Possibly non essential (E-score: 0.434) question?
Stock #IGL00950
Quality Score
Status
Chromosome15
Chromosomal Location76347040-76351111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76348224 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 171 (E171G)
Ref Sequence ENSEMBL: ENSMUSP00000023211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000229013] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045]
Predicted Effect probably benign
Transcript: ENSMUST00000023210
SMART Domains Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Pfam:Cytochrom_C1 96 314 1.5e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000023211
AA Change: E171G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Sharpin_PH 13 125 1.2e-44 PFAM
low complexity region 187 202 N/A INTRINSIC
PDB:4DBG|A 203 299 1e-17 PDB
SCOP:d1euvb_ 212 301 2e-5 SMART
Blast:UBQ 218 299 2e-26 BLAST
ZnF_RBZ 343 367 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023212
SMART Domains Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154477
Predicted Effect probably benign
Transcript: ENSMUST00000159429
SMART Domains Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
ZnF_RBZ 46 70 9.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160097
Predicted Effect probably benign
Transcript: ENSMUST00000160172
SMART Domains Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.7e-70 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160560
AA Change: S113G
SMART Domains Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: S113G

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
PDB:4EMO|D 24 62 2e-13 PDB
low complexity region 64 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160853
SMART Domains Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 25 202 4.6e-67 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160875
Predicted Effect probably benign
Transcript: ENSMUST00000160914
SMART Domains Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:Maf1 84 202 4.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161391
Predicted Effect probably benign
Transcript: ENSMUST00000161527
SMART Domains Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162871
Predicted Effect probably benign
Transcript: ENSMUST00000229013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230016
Predicted Effect unknown
Transcript: ENSMUST00000230314
AA Change: S113G
Predicted Effect probably benign
Transcript: ENSMUST00000230706
Predicted Effect probably benign
Transcript: ENSMUST00000231045
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene produces chronic skin lesions. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(2) Spontaneous(2)          

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
Chrne C T 11: 70,619,157 probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gcnt4 A G 13: 96,946,556 Y120C probably damaging Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
H2-Q4 A C 17: 35,382,858 D232A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Slc36a1 T C 11: 55,226,128 C328R probably damaging Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sox13 A G 1: 133,387,106 V272A probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in Sharpin
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0012:Sharpin UTSW 15 76348343 missense possibly damaging 0.88
R0012:Sharpin UTSW 15 76348343 missense possibly damaging 0.88
R1733:Sharpin UTSW 15 76347936 missense probably benign 0.00
R1735:Sharpin UTSW 15 76347936 missense probably benign 0.00
R2051:Sharpin UTSW 15 76348207 missense probably benign 0.02
R2172:Sharpin UTSW 15 76350666 unclassified probably benign
R2909:Sharpin UTSW 15 76350611 unclassified probably benign
R4749:Sharpin UTSW 15 76347567 missense probably damaging 0.99
R5027:Sharpin UTSW 15 76350025 unclassified probably benign
R5050:Sharpin UTSW 15 76348330 missense probably damaging 1.00
R5062:Sharpin UTSW 15 76347611 unclassified probably benign
R5172:Sharpin UTSW 15 76347541 missense probably benign 0.02
R5428:Sharpin UTSW 15 76350666 unclassified probably benign
R5610:Sharpin UTSW 15 76350053 critical splice donor site probably null
Posted On2013-04-17