Incidental Mutation 'IGL03029:Shisa6'
ID 408340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shisa6
Ensembl Gene ENSMUSG00000053930
Gene Name shisa family member 6
Synonyms Gm879, CKAMP52, LOC380702
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03029
Quality Score
Status
Chromosome 11
Chromosomal Location 66102551-66416790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66108839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 346 (E346V)
Ref Sequence ENSEMBL: ENSMUSP00000071025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066679]
AlphaFold Q3UH99
Predicted Effect probably damaging
Transcript: ENSMUST00000066679
AA Change: E346V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: E346V

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 42 59 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Pfam:Shisa 97 294 6.3e-43 PFAM
low complexity region 378 389 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000123454
AA Change: E321V
SMART Domains Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: E321V

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
Pfam:Shisa 41 227 2.4e-43 PFAM
low complexity region 354 365 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144922
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,312,314 (GRCm39) D213V probably damaging Het
Akap6 T C 12: 52,933,195 (GRCm39) L229P probably damaging Het
Ankrd10 A T 8: 11,669,304 (GRCm39) probably null Het
Arfgap3 C T 15: 83,206,851 (GRCm39) E246K probably damaging Het
Cadps G T 14: 12,376,675 (GRCm38) T1274K probably damaging Het
Cd46 T C 1: 194,768,451 (GRCm39) T89A probably benign Het
Cylc1 A C X: 110,156,944 (GRCm39) probably benign Het
Dach2 T A X: 112,724,833 (GRCm39) L492* probably null Het
Dlc1 T C 8: 37,038,416 (GRCm39) probably null Het
Fanci T C 7: 79,093,747 (GRCm39) V1033A probably benign Het
Fat4 T C 3: 39,036,740 (GRCm39) I3464T possibly damaging Het
Fus A G 7: 127,584,712 (GRCm39) probably benign Het
Garin5b G T 7: 4,760,839 (GRCm39) N624K possibly damaging Het
Hectd3 G T 4: 116,854,162 (GRCm39) E271* probably null Het
Herc2 T C 7: 55,818,715 (GRCm39) L2802P probably damaging Het
Hk2 G A 6: 82,715,314 (GRCm39) R407C probably damaging Het
Josd2 T C 7: 44,120,601 (GRCm39) S71P probably damaging Het
Kif20b A G 19: 34,928,313 (GRCm39) T1152A probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nup188 T C 2: 30,212,592 (GRCm39) probably benign Het
Or1i2 T A 10: 78,447,792 (GRCm39) I228F probably benign Het
Pank1 T A 19: 34,798,535 (GRCm39) I476F probably damaging Het
Pdcd6 A G 13: 74,457,899 (GRCm39) Y91H probably damaging Het
Pik3r3 T G 4: 116,156,998 (GRCm39) V393G probably damaging Het
Poglut3 T C 9: 53,295,588 (GRCm39) probably null Het
Prx C T 7: 27,207,486 (GRCm39) R48* probably null Het
Rbm5 A G 9: 107,631,652 (GRCm39) S222P possibly damaging Het
Rev3l T A 10: 39,704,482 (GRCm39) I302N probably benign Het
Rnf139 T C 15: 58,770,967 (GRCm39) F331L probably damaging Het
Shisa4 G T 1: 135,300,914 (GRCm39) Q119K probably damaging Het
Slc6a3 A T 13: 73,686,816 (GRCm39) E61V probably damaging Het
Slc9a7 T A X: 20,157,608 (GRCm39) M106L probably benign Het
Srek1 A G 13: 103,900,468 (GRCm39) probably benign Het
Strc G A 2: 121,194,525 (GRCm39) L1788F possibly damaging Het
Styk1 T C 6: 131,277,523 (GRCm39) S284G probably benign Het
Top2a T A 11: 98,909,625 (GRCm39) T158S probably benign Het
Vangl1 C T 3: 102,091,400 (GRCm39) V229M probably damaging Het
Vsig1 A G X: 139,827,261 (GRCm39) T137A possibly damaging Het
Other mutations in Shisa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Shisa6 APN 11 66,108,654 (GRCm39) missense possibly damaging 0.94
IGL01620:Shisa6 APN 11 66,108,705 (GRCm39) missense probably benign 0.03
IGL02702:Shisa6 APN 11 66,110,788 (GRCm39) missense probably damaging 1.00
IGL02810:Shisa6 APN 11 66,115,774 (GRCm39) missense possibly damaging 0.64
R0363:Shisa6 UTSW 11 66,416,153 (GRCm39) missense probably benign 0.17
R1220:Shisa6 UTSW 11 66,110,836 (GRCm39) missense probably damaging 1.00
R1264:Shisa6 UTSW 11 66,265,975 (GRCm39) splice site probably benign
R2495:Shisa6 UTSW 11 66,108,459 (GRCm39) missense probably damaging 1.00
R3962:Shisa6 UTSW 11 66,108,302 (GRCm39) missense probably damaging 1.00
R4449:Shisa6 UTSW 11 66,416,244 (GRCm39) missense probably benign 0.18
R5872:Shisa6 UTSW 11 66,108,800 (GRCm39) missense probably damaging 1.00
R6059:Shisa6 UTSW 11 66,115,800 (GRCm39) missense probably damaging 0.98
R6172:Shisa6 UTSW 11 66,108,832 (GRCm39) missense probably benign 0.28
R6849:Shisa6 UTSW 11 66,416,327 (GRCm39) missense probably benign 0.01
R6903:Shisa6 UTSW 11 66,265,982 (GRCm39) splice site probably null
R7282:Shisa6 UTSW 11 66,393,480 (GRCm39) missense possibly damaging 0.94
R7450:Shisa6 UTSW 11 66,108,832 (GRCm39) missense probably benign 0.28
R7985:Shisa6 UTSW 11 66,265,990 (GRCm39) missense
R8449:Shisa6 UTSW 11 66,416,556 (GRCm39) missense probably benign 0.01
R9129:Shisa6 UTSW 11 66,110,853 (GRCm39) missense probably benign 0.37
RF008:Shisa6 UTSW 11 66,416,749 (GRCm39) unclassified probably benign
Z1176:Shisa6 UTSW 11 66,266,053 (GRCm39) missense
Z1187:Shisa6 UTSW 11 66,416,533 (GRCm39) small insertion probably benign
Z1187:Shisa6 UTSW 11 66,416,524 (GRCm39) small insertion probably benign
Z1188:Shisa6 UTSW 11 66,416,519 (GRCm39) small insertion probably benign
Z1190:Shisa6 UTSW 11 66,416,535 (GRCm39) small insertion probably benign
Z1190:Shisa6 UTSW 11 66,416,519 (GRCm39) small insertion probably benign
Z1191:Shisa6 UTSW 11 66,416,517 (GRCm39) small insertion probably benign
Posted On 2016-08-02