Incidental Mutation 'IGL02971:Serpinb6a'
ID365833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6a
Ensembl Gene ENSMUSG00000060147
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 6a
Synonymsovalbumin, D330015H01Rik, 4930482L21Rik, Spi3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02971
Quality Score
Status
Chromosome13
Chromosomal Location33917918-34002794 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 33931470 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000164627] [ENSMUST00000166354] [ENSMUST00000167163] [ENSMUST00000167237] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000168400] [ENSMUST00000170991] [ENSMUST00000171034] [ENSMUST00000171252]
Predicted Effect probably null
Transcript: ENSMUST00000017188
SMART Domains Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 34 399 2.84e-179 SMART
Predicted Effect probably null
Transcript: ENSMUST00000043552
SMART Domains Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably null
Transcript: ENSMUST00000076532
SMART Domains Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147622
Predicted Effect probably null
Transcript: ENSMUST00000164627
SMART Domains Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 144 1.26e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166354
SMART Domains Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
Pfam:Serpin 6 66 3.8e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167163
SMART Domains Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167237
Predicted Effect probably null
Transcript: ENSMUST00000167260
SMART Domains Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 193 1.34e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168350
SMART Domains Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 162 9.24e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168400
SMART Domains Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
Pfam:Serpin 6 120 3.5e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170991
SMART Domains Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
Pfam:Serpin 6 73 2.2e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171034
SMART Domains Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 228 3.54e-34 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171252
SMART Domains Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147

DomainStartEndE-ValueType
SERPIN 13 188 4.71e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181800
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and developmentally normal, with no apparent alterations in growth, leukocyte function, or sensitivity to cerebral ischemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Serpinb6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Serpinb6a APN 13 33931512 missense possibly damaging 0.54
IGL01356:Serpinb6a APN 13 33925417 missense possibly damaging 0.76
IGL01458:Serpinb6a APN 13 33930081 missense possibly damaging 0.56
IGL01539:Serpinb6a APN 13 33930134 missense probably damaging 1.00
IGL02795:Serpinb6a APN 13 33931593 missense probably damaging 1.00
IGL02885:Serpinb6a APN 13 33918799 missense probably benign 0.11
R0829:Serpinb6a UTSW 13 33935701 utr 5 prime probably benign
R1324:Serpinb6a UTSW 13 33918360 missense probably damaging 1.00
R2232:Serpinb6a UTSW 13 33925320 missense probably damaging 0.97
R3498:Serpinb6a UTSW 13 33918781 missense probably damaging 0.99
R4982:Serpinb6a UTSW 13 33918874 missense probably damaging 0.99
R5131:Serpinb6a UTSW 13 33918872 missense probably benign 0.42
R5132:Serpinb6a UTSW 13 33918322 missense probably benign 0.00
R6149:Serpinb6a UTSW 13 33918360 missense probably damaging 1.00
R6427:Serpinb6a UTSW 13 33918259 missense probably damaging 0.99
R6937:Serpinb6a UTSW 13 33918818 missense possibly damaging 0.81
Posted On2015-12-18