Incidental Mutation 'R5132:Serpinb6a'
ID 395883
Institutional Source Beutler Lab
Gene Symbol Serpinb6a
Ensembl Gene ENSMUSG00000060147
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6a
Synonyms ovalbumin, D330015H01Rik, 4930482L21Rik, Spi3
MMRRC Submission 042720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5132 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 33917918-34002794 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33918322 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 307 (D307N)
Ref Sequence ENSEMBL: ENSMUSP00000017188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000167163] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000171034] [ENSMUST00000171252]
AlphaFold Q60854
Predicted Effect probably benign
Transcript: ENSMUST00000017188
AA Change: D307N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: D307N

DomainStartEndE-ValueType
SERPIN 34 399 2.84e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043552
AA Change: D286N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: D286N

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076532
AA Change: D286N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: D286N

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167163
AA Change: D286N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: D286N

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

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

DomainStartEndE-ValueType
SERPIN 13 162 9.24e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171034
SMART Domains Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

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

DomainStartEndE-ValueType
SERPIN 13 188 4.71e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171951
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A G 4: 41,517,178 (GRCm38) probably benign Het
Abl2 A T 1: 156,641,832 (GRCm38) K785* probably null Het
Acad11 A T 9: 104,126,592 (GRCm38) I628L probably benign Het
Ago1 T C 4: 126,461,723 (GRCm38) I98V probably benign Het
Bach2 A G 4: 32,563,396 (GRCm38) probably benign Het
Calr3 C T 8: 72,431,368 (GRCm38) probably null Het
Cdc23 C A 18: 34,651,689 (GRCm38) V7L unknown Het
Cdc42ep3 C T 17: 79,335,374 (GRCm38) R39H probably damaging Het
Cyp2j5 T C 4: 96,629,496 (GRCm38) Y493C probably damaging Het
Ddx19b A T 8: 111,022,408 (GRCm38) D66E probably benign Het
Drosha A G 15: 12,837,291 (GRCm38) D287G unknown Het
Gm8888 A G 15: 96,767,011 (GRCm38) noncoding transcript Het
Gpr25 G T 1: 136,260,365 (GRCm38) A170E probably damaging Het
Gria1 A G 11: 57,289,399 (GRCm38) Y656C probably damaging Het
Grik5 C T 7: 25,065,204 (GRCm38) V145I probably benign Het
Htt T C 5: 34,905,679 (GRCm38) V2885A possibly damaging Het
Larp6 A G 9: 60,737,210 (GRCm38) E211G probably damaging Het
Magi1 C A 6: 93,683,091 (GRCm38) probably null Het
Mtbp A G 15: 55,558,569 (GRCm38) S63G possibly damaging Het
Ndor1 A T 2: 25,247,769 (GRCm38) S513T probably benign Het
Nsd3 A G 8: 25,678,839 (GRCm38) D670G possibly damaging Het
Olfr1118 A T 2: 87,308,938 (GRCm38) M50L probably damaging Het
Olfr1299 T A 2: 111,664,999 (GRCm38) Y258N probably damaging Het
Olfr513 T C 7: 108,755,270 (GRCm38) V138A probably damaging Het
Pcdh7 T C 5: 57,728,121 (GRCm38) V1061A probably benign Het
Pdia4 A G 6: 47,796,735 (GRCm38) I560T probably benign Het
Pomt2 A G 12: 87,110,347 (GRCm38) F733L probably damaging Het
Pprc1 T C 19: 46,072,682 (GRCm38) probably benign Het
Prkca T C 11: 108,192,117 (GRCm38) probably benign Het
Pspc1 A T 14: 56,723,250 (GRCm38) S473T probably benign Het
Rgs12 A G 5: 34,989,812 (GRCm38) probably benign Het
Scn3a C T 2: 65,468,204 (GRCm38) V1384I probably benign Het
Smap2 T C 4: 120,973,173 (GRCm38) E255G possibly damaging Het
St7 A T 6: 17,854,957 (GRCm38) I298F probably damaging Het
Tgm7 A G 2: 121,104,219 (GRCm38) F93L probably damaging Het
Timm23 A T 14: 32,193,945 (GRCm38) D56E probably damaging Het
Tmem170 A T 8: 111,869,725 (GRCm38) M56K probably benign Het
Other mutations in Serpinb6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Serpinb6a APN 13 33,931,512 (GRCm38) missense possibly damaging 0.54
IGL01356:Serpinb6a APN 13 33,925,417 (GRCm38) missense possibly damaging 0.76
IGL01458:Serpinb6a APN 13 33,930,081 (GRCm38) missense possibly damaging 0.56
IGL01539:Serpinb6a APN 13 33,930,134 (GRCm38) missense probably damaging 1.00
IGL02795:Serpinb6a APN 13 33,931,593 (GRCm38) missense probably damaging 1.00
IGL02885:Serpinb6a APN 13 33,918,799 (GRCm38) missense probably benign 0.11
IGL02971:Serpinb6a APN 13 33,931,470 (GRCm38) critical splice donor site probably null
R0829:Serpinb6a UTSW 13 33,935,701 (GRCm38) utr 5 prime probably benign
R1324:Serpinb6a UTSW 13 33,918,360 (GRCm38) missense probably damaging 1.00
R2232:Serpinb6a UTSW 13 33,925,320 (GRCm38) missense probably damaging 0.97
R3498:Serpinb6a UTSW 13 33,918,781 (GRCm38) missense probably damaging 0.99
R4982:Serpinb6a UTSW 13 33,918,874 (GRCm38) missense probably damaging 0.99
R5131:Serpinb6a UTSW 13 33,918,872 (GRCm38) missense probably benign 0.42
R6149:Serpinb6a UTSW 13 33,918,360 (GRCm38) missense probably damaging 1.00
R6427:Serpinb6a UTSW 13 33,918,259 (GRCm38) missense probably damaging 0.99
R6937:Serpinb6a UTSW 13 33,918,818 (GRCm38) missense possibly damaging 0.81
R7806:Serpinb6a UTSW 13 33,935,565 (GRCm38) splice site probably null
R7830:Serpinb6a UTSW 13 33,930,047 (GRCm38) missense probably benign 0.09
R7948:Serpinb6a UTSW 13 33,923,020 (GRCm38) missense probably benign 0.00
R7949:Serpinb6a UTSW 13 33,923,020 (GRCm38) missense probably benign 0.00
R8531:Serpinb6a UTSW 13 33,931,479 (GRCm38) missense probably damaging 0.99
R8773:Serpinb6a UTSW 13 33,931,560 (GRCm38) missense probably damaging 1.00
R9117:Serpinb6a UTSW 13 33,925,429 (GRCm38) missense probably benign 0.35
R9182:Serpinb6a UTSW 13 33,925,377 (GRCm38) missense probably damaging 1.00
R9565:Serpinb6a UTSW 13 33,918,417 (GRCm38) missense probably damaging 1.00
R9781:Serpinb6a UTSW 13 33,925,363 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCACCTCACCGTCATCATG -3'
(R):5'- TAATAGGTTACAGCCACACTTCC -3'

Sequencing Primer
(F):5'- TCATCATGCCAGCTGTAGCAG -3'
(R):5'- CCCTGGGCACTGTAGAATGTTAC -3'
Posted On 2016-06-21