Incidental Mutation 'IGL02702:Shisa6'
ID304173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shisa6
Ensembl Gene ENSMUSG00000053930
Gene Nameshisa family member 6
SynonymsGm879, LOC380702
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02702
Quality Score
Status
Chromosome11
Chromosomal Location66211725-66525964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 66219962 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 318 (L318V)
Ref Sequence ENSEMBL: ENSMUSP00000071025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066679]
Predicted Effect probably damaging
Transcript: ENSMUST00000066679
AA Change: L318V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: L318V

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: L293V
SMART Domains Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: L293V

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,838,138 V337I probably benign Het
Adam11 G A 11: 102,777,038 V750I probably benign Het
Alms1 T C 6: 85,599,849 V129A probably benign Het
Cacna1d T A 14: 30,123,533 K560* probably null Het
Cntn1 A G 15: 92,291,601 probably benign Het
Cpne2 T C 8: 94,570,023 V530A probably benign Het
Fbxo21 T C 5: 118,000,510 L507P probably damaging Het
Fndc4 T C 5: 31,293,735 K204R probably damaging Het
Gnrhr G T 5: 86,182,269 N297K possibly damaging Het
Grin2b A G 6: 135,739,132 F729S probably damaging Het
Hdac3 C A 18: 37,941,094 R359L probably benign Het
Met T C 6: 17,534,143 S662P possibly damaging Het
Mphosph9 T A 5: 124,259,989 E1081D probably damaging Het
Mycbp2 T G 14: 103,220,124 T1546P probably benign Het
Nlrp9a T A 7: 26,564,956 M767K possibly damaging Het
Olfm5 A G 7: 104,154,357 Y300H probably damaging Het
Olfr911-ps1 T A 9: 38,524,560 V276D probably damaging Het
Pcf11 A T 7: 92,661,618 N178K possibly damaging Het
Polr3a T C 14: 24,470,877 I571M probably benign Het
Ppef2 T A 5: 92,231,819 R557W probably benign Het
Prelid3a T A 18: 67,473,794 D85E probably damaging Het
Rb1cc1 A G 1: 6,240,023 E215G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Recql4 C T 15: 76,707,285 G501R probably damaging Het
Sema3e T C 5: 14,233,726 probably benign Het
Slu7 T C 11: 43,438,892 probably benign Het
Spink12 T C 18: 44,104,769 V38A probably benign Het
Syne2 A G 12: 76,097,924 D1549G probably damaging Het
Tet1 A G 10: 62,879,752 V88A possibly damaging Het
Tmem200a C T 10: 25,993,603 G256D probably damaging Het
Ttn G T 2: 76,884,491 probably benign Het
Ugt2b34 T C 5: 86,892,891 I391V probably benign Het
Zfp292 A T 4: 34,809,415 L1215I probably benign Het
Zfp410 C A 12: 84,325,776 N125K probably damaging Het
Other mutations in Shisa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Shisa6 APN 11 66217828 missense possibly damaging 0.94
IGL01620:Shisa6 APN 11 66217879 missense probably benign 0.03
IGL02810:Shisa6 APN 11 66224948 missense possibly damaging 0.64
IGL03029:Shisa6 APN 11 66218013 missense probably damaging 1.00
R0363:Shisa6 UTSW 11 66525327 missense probably benign 0.17
R1220:Shisa6 UTSW 11 66220010 missense probably damaging 1.00
R1264:Shisa6 UTSW 11 66375149 splice site probably benign
R2495:Shisa6 UTSW 11 66217633 missense probably damaging 1.00
R3962:Shisa6 UTSW 11 66217476 missense probably damaging 1.00
R4449:Shisa6 UTSW 11 66525418 missense probably benign 0.18
R5872:Shisa6 UTSW 11 66217974 missense probably damaging 1.00
R6059:Shisa6 UTSW 11 66224974 missense probably damaging 0.98
R6172:Shisa6 UTSW 11 66218006 missense probably benign 0.28
R6849:Shisa6 UTSW 11 66525501 missense probably benign 0.01
R6903:Shisa6 UTSW 11 66375156 splice site probably null
R7282:Shisa6 UTSW 11 66502654 missense possibly damaging 0.94
R7450:Shisa6 UTSW 11 66218006 missense probably benign 0.28
RF008:Shisa6 UTSW 11 66525923 unclassified probably benign
Z1176:Shisa6 UTSW 11 66375227 missense
Posted On2015-04-16