Incidental Mutation 'IGL00963:Sowahb'
ID27495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sowahb
Ensembl Gene ENSMUSG00000045314
Gene Namesosondowah ankyrin repeat domain family member B
Synonyms5730467H21Rik, Ankrd56
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL00963
Quality Score
Status
Chromosome5
Chromosomal Location93041123-93045022 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93044011 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 283 (Y283C)
Ref Sequence ENSEMBL: ENSMUSP00000055267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061328]
Predicted Effect probably damaging
Transcript: ENSMUST00000061328
AA Change: Y283C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: Y283C

DomainStartEndE-ValueType
low complexity region 233 253 N/A INTRINSIC
low complexity region 267 277 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
low complexity region 462 488 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
ANK 597 632 7.99e2 SMART
ANK 636 666 4.32e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Sowahb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Sowahb APN 5 93043842 missense probably benign 0.03
IGL02656:Sowahb APN 5 93043247 missense probably benign
R0827:Sowahb UTSW 5 93043286 missense probably damaging 0.99
R2174:Sowahb UTSW 5 93044425 missense possibly damaging 0.72
R3121:Sowahb UTSW 5 93043402 missense possibly damaging 0.85
R3122:Sowahb UTSW 5 93043402 missense possibly damaging 0.85
R4646:Sowahb UTSW 5 93042856 missense probably damaging 1.00
R5130:Sowahb UTSW 5 93042771 missense possibly damaging 0.56
R7712:Sowahb UTSW 5 93043381 missense probably benign 0.18
R8040:Sowahb UTSW 5 93043433 missense possibly damaging 0.73
X0064:Sowahb UTSW 5 93043391 missense probably benign
Posted On2013-04-17