Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Serpinb6a'

359947

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

ovalbumin, D330015H01Rik, 4930482L21Rik, Spi3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

33917918-34002794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33931593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 15 (L15R)

Ref Sequence

ENSEMBL: ENSMUSP00000126162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000164627] [ENSMUST00000166354] [ENSMUST00000167163] [ENSMUST00000167237] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000168400] [ENSMUST00000171034] [ENSMUST00000170991] [ENSMUST00000171252]

AlphaFold

Q60854

Predicted Effect

probably damaging
Transcript: ENSMUST00000017188
AA Change: L36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: L36R

Domain	Start	End	E-Value	Type
SERPIN	34	399	2.84e-179	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000043552
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	378	2.84e-179	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076532
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	378	2.84e-179	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147622

Predicted Effect

probably damaging
Transcript: ENSMUST00000164627
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	144	1.26e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166354
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	66	3.8e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167163
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	378	2.84e-179	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000167237
AA Change: L15R

Predicted Effect

probably damaging
Transcript: ENSMUST00000167260
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	193	1.34e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168350
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	162	9.24e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168400
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	120	3.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171034
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	228	3.54e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170991
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
Pfam:Serpin	6	73	2.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171252
AA Change: L15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
AA Change: L15R

Domain	Start	End	E-Value	Type
SERPIN	13	188	4.71e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171985

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lgr4	T	C	2: 110,008,210		probably benign	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490		probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438	E273G	possibly damaging	Het

Other mutations in Serpinb6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02885:Serpinb6a	APN	13	33918799	missense	probably benign	0.11
IGL02971:Serpinb6a	APN	13	33931470	critical splice donor site	probably null
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
R7806:Serpinb6a	UTSW	13	33935565	splice site	probably null
R7830:Serpinb6a	UTSW	13	33930047	missense	probably benign	0.09
R7948:Serpinb6a	UTSW	13	33923020	missense	probably benign	0.00
R7949:Serpinb6a	UTSW	13	33923020	missense	probably benign	0.00
R8531:Serpinb6a	UTSW	13	33931479	missense	probably damaging	0.99
R8773:Serpinb6a	UTSW	13	33931560	missense	probably damaging	1.00
R9117:Serpinb6a	UTSW	13	33925429	missense	probably benign	0.35
R9182:Serpinb6a	UTSW	13	33925377	missense	probably damaging	1.00
R9565:Serpinb6a	UTSW	13	33918417	missense	probably damaging	1.00
R9781:Serpinb6a	UTSW	13	33925363	missense	probably benign	0.01

Posted On

2015-12-18