Incidental Mutation 'IGL02656:Sowahb'
ID302334
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: 0.157) question?
Stock #IGL02656
Quality Score
Status
Chromosome5
Chromosomal Location93041123-93045022 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93043247 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 538 (S538G)
Ref Sequence ENSEMBL: ENSMUSP00000055267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061328]
Predicted Effect probably benign
Transcript: ENSMUST00000061328
AA Change: S538G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: S538G

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Sowahb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Sowahb APN 5 93043842 missense probably benign 0.03
IGL00963:Sowahb APN 5 93044011 missense probably damaging 0.98
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
R8071:Sowahb UTSW 5 93043063 missense probably damaging 1.00
R8075:Sowahb UTSW 5 93044417 nonsense probably null
R8138:Sowahb UTSW 5 93043483 missense probably benign
R8505:Sowahb UTSW 5 93042591 missense possibly damaging 0.85
X0064:Sowahb UTSW 5 93043391 missense probably benign
Posted On2015-04-16