Incidental Mutation 'R9182:Serpinb6a'
ID 697138
Institutional Source Beutler Lab
Gene Symbol Serpinb6a
Ensembl Gene ENSMUSG00000060147
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6a
Synonyms D330015H01Rik, ovalbumin, 4930482L21Rik, Spi3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9182 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34101901-34186777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34109360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000017188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000164627] [ENSMUST00000166354] [ENSMUST00000167163] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000168400] [ENSMUST00000170991] [ENSMUST00000171034] [ENSMUST00000171252]
AlphaFold Q60854
Predicted Effect probably damaging
Transcript: ENSMUST00000017188
AA Change: D145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: D145G

DomainStartEndE-ValueType
SERPIN 34 399 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043552
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076532
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164627
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147
AA Change: D124G

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: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 378 2.84e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167260
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 193 1.34e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168350
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
AA Change: D124G

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

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

DomainStartEndE-ValueType
Pfam:Serpin 6 73 2.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171034
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 228 3.54e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171252
AA Change: D124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 188 4.71e-9 SMART
Meta Mutation Damage Score 0.5860 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (99/99)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,243,473 (GRCm39) M190K probably damaging Het
4931406B18Rik A G 7: 43,153,640 (GRCm39) W3R probably damaging Het
Acap3 T C 4: 155,989,892 (GRCm39) L720P probably damaging Het
Actc1 T C 2: 113,882,494 (GRCm39) T7A probably benign Het
Angpt2 T A 8: 18,760,658 (GRCm39) probably null Het
Babam2 T A 5: 32,058,401 (GRCm39) D228E possibly damaging Het
Ccar1 G A 10: 62,621,347 (GRCm39) L34F probably damaging Het
Ccdc83 T C 7: 89,886,102 (GRCm39) D219G probably damaging Het
Cct2 A G 10: 116,892,025 (GRCm39) V341A probably benign Het
Cdc20b G A 13: 113,208,503 (GRCm39) probably null Het
Chd7 T A 4: 8,838,737 (GRCm39) L1312Q probably damaging Het
Cltc G A 11: 86,595,982 (GRCm39) T1252I probably damaging Het
Cnpy1 G T 5: 28,450,799 (GRCm39) D2E possibly damaging Het
Crat C T 2: 30,298,085 (GRCm39) V205M probably damaging Het
Cspg4b A G 13: 113,457,358 (GRCm39) N1135D Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dglucy T C 12: 100,811,028 (GRCm39) V254A possibly damaging Het
Disp3 A G 4: 148,354,841 (GRCm39) S392P probably damaging Het
Dlx6 A T 6: 6,863,456 (GRCm39) Q26L probably benign Het
Dnah3 T C 7: 119,684,351 (GRCm39) D258G probably damaging Het
Dnah6 A T 6: 73,121,688 (GRCm39) Y1431* probably null Het
Dnah7b T C 1: 46,330,038 (GRCm39) I3294T probably benign Het
Dnai2 A G 11: 114,623,839 (GRCm39) N34S probably benign Het
Dock2 T C 11: 34,260,398 (GRCm39) K981R possibly damaging Het
Entpd8 T C 2: 24,971,931 (GRCm39) I33T probably benign Het
Eppk1 A G 15: 75,995,453 (GRCm39) L476P probably benign Het
Etv1 T A 12: 38,830,716 (GRCm39) probably null Het
Fads2b T C 2: 85,330,581 (GRCm39) H242R probably benign Het
Fam193a T A 5: 34,623,361 (GRCm39) N1316K possibly damaging Het
Fkbp4 T C 6: 128,415,382 (GRCm39) E31G probably benign Het
Fnbp1l C T 3: 122,363,345 (GRCm39) D81N probably damaging Het
Fstl4 T C 11: 53,024,905 (GRCm39) V259A probably damaging Het
Glipr1l1 T C 10: 111,912,056 (GRCm39) S197P probably damaging Het
Gprin3 A T 6: 59,331,197 (GRCm39) M370K probably benign Het
Gsc G T 12: 104,439,120 (GRCm39) Y85* probably null Het
Gys2 T G 6: 142,391,735 (GRCm39) Y509S probably damaging Het
Gys2 T C 6: 142,406,978 (GRCm39) N126S possibly damaging Het
Hmcn1 A T 1: 150,488,405 (GRCm39) W4292R probably damaging Het
Hmcn1 C A 1: 150,500,337 (GRCm39) E3952* probably null Het
Hsd3b9 C T 3: 98,354,005 (GRCm39) A165T possibly damaging Het
Htr1f T C 16: 64,746,825 (GRCm39) M156V probably benign Het
Il21r G A 7: 125,228,213 (GRCm39) G228E probably benign Het
Kat6b C T 14: 21,567,187 (GRCm39) S82L probably benign Het
Kntc1 T A 5: 123,940,355 (GRCm39) L1651Q probably damaging Het
Lipi G T 16: 75,357,673 (GRCm39) Y297* probably null Het
Mapre3 T C 5: 31,022,016 (GRCm39) S190P possibly damaging Het
Mmp8 T A 9: 7,567,467 (GRCm39) Y442* probably null Het
Mmut A G 17: 41,252,310 (GRCm39) E284G probably damaging Het
Mt3 G A 8: 94,880,615 (GRCm39) E62K unknown Het
Myh13 A G 11: 67,228,579 (GRCm39) E373G probably damaging Het
Myh7 T C 14: 55,226,374 (GRCm39) Y422C probably damaging Het
Nalcn A G 14: 123,834,016 (GRCm39) V53A probably damaging Het
Nucb2 A G 7: 116,121,070 (GRCm39) probably null Het
Opn5 A T 17: 42,903,890 (GRCm39) H148Q probably damaging Het
Or13a23-ps1 A T 7: 140,118,782 (GRCm39) L117F probably benign Het
Or51h1 A T 7: 102,308,927 (GRCm39) I300L probably damaging Het
Or51v14 T C 7: 103,261,063 (GRCm39) K166E possibly damaging Het
Or6b1 A T 6: 42,815,010 (GRCm39) N65I probably benign Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or8b56 C A 9: 38,739,172 (GRCm39) H56N probably damaging Het
Osmr T A 15: 6,850,569 (GRCm39) D679V probably damaging Het
Pde4dip T C 3: 97,602,314 (GRCm39) D2305G probably benign Het
Pdgfrl A T 8: 41,429,996 (GRCm39) Q121L probably damaging Het
Pls1 C A 9: 95,658,811 (GRCm39) V226F probably damaging Het
Plxnd1 T A 6: 115,970,746 (GRCm39) I341F probably damaging Het
Ppfia2 T A 10: 106,763,640 (GRCm39) M1211K probably benign Het
Ppfibp2 T A 7: 107,308,053 (GRCm39) Y229N possibly damaging Het
Prss53 A G 7: 127,487,554 (GRCm39) S266P probably benign Het
Pycr2 C T 1: 180,734,397 (GRCm39) Q226* probably null Het
Rad50 T C 11: 53,583,590 (GRCm39) H397R probably benign Het
Raf1 T C 6: 115,600,440 (GRCm39) E393G probably damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Robo4 A T 9: 37,313,206 (GRCm39) probably benign Het
Sbf1 A T 15: 89,173,806 (GRCm39) probably null Het
Setx T A 2: 29,061,299 (GRCm39) M2236K probably damaging Het
Sgms1 A G 19: 32,101,758 (GRCm39) V416A probably benign Het
Six5 T G 7: 18,830,932 (GRCm39) S520A probably benign Het
Sox5 T A 6: 143,779,118 (GRCm39) I722F possibly damaging Het
Spag17 T G 3: 99,966,158 (GRCm39) I1147S possibly damaging Het
Spice1 C T 16: 44,206,065 (GRCm39) T842I possibly damaging Het
Ssbp2 A G 13: 91,848,800 (GRCm39) T358A probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tbc1d2b C A 9: 90,152,652 (GRCm39) C38F probably damaging Het
Tecrl C A 5: 83,457,049 (GRCm39) probably null Het
Tgm7 T C 2: 120,926,980 (GRCm39) N390D probably benign Het
Thsd4 T G 9: 59,894,649 (GRCm39) M770L probably benign Het
Tmod2 C A 9: 75,504,624 (GRCm39) probably benign Het
Tnks A G 8: 35,308,905 (GRCm39) probably null Het
Tox3 T C 8: 90,984,507 (GRCm39) N224S probably benign Het
Trappc10 C T 10: 78,050,464 (GRCm39) E326K probably damaging Het
Usp16 T A 16: 87,276,542 (GRCm39) F627I probably benign Het
Vcam1 T C 3: 115,911,004 (GRCm39) I465V probably benign Het
Vmn1r128 T C 7: 21,083,683 (GRCm39) I129T possibly damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r2 A T 3: 64,044,802 (GRCm39) C115S probably damaging Het
Vmn2r85 A C 10: 130,265,350 (GRCm39) S44R probably benign Het
Wasf3 T A 5: 146,403,635 (GRCm39) Y248* probably null Het
Yipf5 A T 18: 40,343,851 (GRCm39) L127M probably damaging Het
Zbp1 G T 2: 173,050,933 (GRCm39) C312* probably null Het
Zfp423 A T 8: 88,508,742 (GRCm39) F534Y probably damaging Het
Zfp69 T G 4: 120,792,308 (GRCm39) Y156S probably damaging Het
Zmat4 A G 8: 24,419,226 (GRCm39) N155S 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
IGL01539:Serpinb6a APN 13 34,114,117 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AACTCTTGTGTGTTGTCCTGAC -3'
(R):5'- ACTAAGGGTCATGCTGGACAG -3'

Sequencing Primer
(F):5'- TAAGTAGGCTTAACTGCTTGAGAG -3'
(R):5'- CTGGACAGCTGGAAAAAGGAAGAATG -3'
Posted On 2022-02-07