Incidental Mutation 'IGL01539:Serpinb6a'
ID 90096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6a
Ensembl Gene ENSMUSG00000060147
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6a
Synonyms D330015H01Rik, ovalbumin, 4930482L21Rik, Spi3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01539
Quality Score
Status
Chromosome 13
Chromosomal Location 34101901-34186777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34114117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 70 (V70D)
Ref Sequence ENSEMBL: ENSMUSP00000126162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000164627] [ENSMUST00000166354] [ENSMUST00000167163] [ENSMUST00000168400] [ENSMUST00000167260] [ENSMUST00000170991] [ENSMUST00000168350] [ENSMUST00000171252] [ENSMUST00000171034] [ENSMUST00000167237]
AlphaFold Q60854
Predicted Effect probably damaging
Transcript: ENSMUST00000017188
AA Change: V91D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: V91D

DomainStartEndE-ValueType
SERPIN 34 399 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043552
AA Change: V70D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076532
AA Change: V70D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164627
AA Change: V70D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147
AA Change: V70D

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

DomainStartEndE-ValueType
Pfam:Serpin 6 66 3.8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167163
AA Change: V70D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168400
AA Change: V70D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
Pfam:Serpin 6 120 3.5e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167260
AA Change: V70D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 193 1.34e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170991
AA Change: V70D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
Pfam:Serpin 6 73 2.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168350
AA Change: V70D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 162 9.24e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171252
AA Change: V70D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 188 4.71e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171985
Predicted Effect probably damaging
Transcript: ENSMUST00000171034
AA Change: V70D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
AA Change: V70D

DomainStartEndE-ValueType
SERPIN 13 228 3.54e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167237
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,631,918 (GRCm39) M196L probably benign Het
Cyp4a14 T C 4: 115,344,374 (GRCm39) N497S possibly damaging Het
Eif3b T C 5: 140,416,008 (GRCm39) probably benign Het
Grin2c T C 11: 115,140,932 (GRCm39) Q1062R probably benign Het
Ina A G 19: 47,003,903 (GRCm39) E237G probably damaging Het
Lmx1b T C 2: 33,529,510 (GRCm39) D83G possibly damaging Het
Macf1 A G 4: 123,289,701 (GRCm39) probably benign Het
Muc6 T A 7: 141,236,306 (GRCm39) M406L probably benign Het
Myo15b T C 11: 115,754,299 (GRCm39) I933T probably benign Het
Or4c121 A G 2: 89,023,836 (GRCm39) F181L possibly damaging Het
Or6c204 T C 10: 129,022,804 (GRCm39) N162S probably benign Het
Pde1b A T 15: 103,433,772 (GRCm39) probably benign Het
Rab29 G A 1: 131,798,445 (GRCm39) R75Q probably damaging Het
Scn10a A T 9: 119,467,764 (GRCm39) I792N probably damaging Het
Slco1a7 A G 6: 141,673,333 (GRCm39) S402P possibly damaging Het
Spart A G 3: 55,024,723 (GRCm39) D106G possibly damaging Het
Sucla2 A G 14: 73,828,561 (GRCm39) E359G probably damaging Het
Sycp2 T C 2: 178,016,488 (GRCm39) Y658C probably damaging Het
Tenm2 T A 11: 35,997,654 (GRCm39) T811S possibly damaging Het
Trim66 C A 7: 109,054,273 (GRCm39) M1312I probably benign Het
Tspan18 A G 2: 93,041,198 (GRCm39) S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 (GRCm39) probably benign Het
Ubr1 A C 2: 120,756,494 (GRCm39) V711G possibly damaging Het
Veph1 T C 3: 66,065,496 (GRCm39) T524A probably benign Het
Vmn1r222 A T 13: 23,417,059 (GRCm39) F51L probably benign Het
Vwf G T 6: 125,567,225 (GRCm39) V338L possibly damaging Het
Zfp770 G T 2: 114,027,574 (GRCm39) A165E probably damaging Het
Other mutations in Serpinb6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Serpinb6a APN 13 34,115,495 (GRCm39) missense possibly damaging 0.54
IGL01356:Serpinb6a APN 13 34,109,400 (GRCm39) missense possibly damaging 0.76
IGL01458:Serpinb6a APN 13 34,114,064 (GRCm39) missense possibly damaging 0.56
IGL02795:Serpinb6a APN 13 34,115,576 (GRCm39) missense probably damaging 1.00
IGL02885:Serpinb6a APN 13 34,102,782 (GRCm39) missense probably benign 0.11
IGL02971:Serpinb6a APN 13 34,115,453 (GRCm39) critical splice donor site probably null
R0829:Serpinb6a UTSW 13 34,119,684 (GRCm39) utr 5 prime probably benign
R1324:Serpinb6a UTSW 13 34,102,343 (GRCm39) missense probably damaging 1.00
R2232:Serpinb6a UTSW 13 34,109,303 (GRCm39) missense probably damaging 0.97
R3498:Serpinb6a UTSW 13 34,102,764 (GRCm39) missense probably damaging 0.99
R4982:Serpinb6a UTSW 13 34,102,857 (GRCm39) missense probably damaging 0.99
R5131:Serpinb6a UTSW 13 34,102,855 (GRCm39) missense probably benign 0.42
R5132:Serpinb6a UTSW 13 34,102,305 (GRCm39) missense probably benign 0.00
R6149:Serpinb6a UTSW 13 34,102,343 (GRCm39) missense probably damaging 1.00
R6427:Serpinb6a UTSW 13 34,102,242 (GRCm39) missense probably damaging 0.99
R6937:Serpinb6a UTSW 13 34,102,801 (GRCm39) missense possibly damaging 0.81
R7806:Serpinb6a UTSW 13 34,119,548 (GRCm39) splice site probably null
R7830:Serpinb6a UTSW 13 34,114,030 (GRCm39) missense probably benign 0.09
R7948:Serpinb6a UTSW 13 34,107,003 (GRCm39) missense probably benign 0.00
R7949:Serpinb6a UTSW 13 34,107,003 (GRCm39) missense probably benign 0.00
R8531:Serpinb6a UTSW 13 34,115,462 (GRCm39) missense probably damaging 0.99
R8773:Serpinb6a UTSW 13 34,115,543 (GRCm39) missense probably damaging 1.00
R9117:Serpinb6a UTSW 13 34,109,412 (GRCm39) missense probably benign 0.35
R9182:Serpinb6a UTSW 13 34,109,360 (GRCm39) missense probably damaging 1.00
R9565:Serpinb6a UTSW 13 34,102,400 (GRCm39) missense probably damaging 1.00
R9781:Serpinb6a UTSW 13 34,109,346 (GRCm39) missense probably benign 0.01
Posted On 2013-12-03