Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Serpinb6a'

365833

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 #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

34101901-34186777 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34115453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126162 (fasta)

Gene Model

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

AlphaFold

Q60854

Predicted Effect

probably null
Transcript: ENSMUST00000017188

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000043552

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000076532

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably null
Transcript: ENSMUST00000166354

SMART Domains

Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000167163

SMART Domains

Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000168400

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000168350

SMART Domains

Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000167260

SMART Domains

Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000170991

SMART Domains

Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000171034

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

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

Predicted Effect

probably null
Transcript: ENSMUST00000171252

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147

Domain	Start	End	E-Value	Type
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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 103,953,564 (GRCm39)	T130I	probably benign	Het
Ahi1	T	C	10: 20,876,450 (GRCm39)	L787P	possibly damaging	Het
Atf3	A	G	1: 190,909,640 (GRCm39)	S10P	probably benign	Het
Cdr2l	A	G	11: 115,281,726 (GRCm39)	N77S	probably damaging	Het
Cnp	A	G	11: 100,467,525 (GRCm39)	D156G	probably benign	Het
Cntn3	A	T	6: 102,145,894 (GRCm39)	D982E	probably damaging	Het
Col22a1	A	G	15: 71,878,587 (GRCm39)	L190S	probably damaging	Het
Csmd3	C	T	15: 47,777,325 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,384,607 (GRCm39)	D3117G	probably damaging	Het
Dock5	T	C	14: 67,994,558 (GRCm39)	E1834G	probably null	Het
Eea1	A	G	10: 95,877,389 (GRCm39)	T1368A	probably benign	Het
Fam83f	T	C	15: 80,556,350 (GRCm39)	V78A	probably benign	Het
Fcgbp	G	A	7: 27,800,898 (GRCm39)	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,198,671 (GRCm39)	Y364*	probably null	Het
Gm21976	G	A	13: 98,439,057 (GRCm39)	G16R	probably null	Het
Guca2b	A	G	4: 119,514,885 (GRCm39)	S59P	probably damaging	Het
Hars2	A	G	18: 36,919,231 (GRCm39)	E123G	probably damaging	Het
Hdac2	A	T	10: 36,876,370 (GRCm39)	K462*	probably null	Het
Huwe1	T	A	X: 150,710,622 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 87,997,611 (GRCm39)	N262K	probably benign	Het
Kat6b	A	G	14: 21,719,826 (GRCm39)	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,134,279 (GRCm39)	D328E	probably benign	Het
Naca	C	T	10: 127,877,437 (GRCm39)		probably benign	Het
Npffr1	T	C	10: 61,449,918 (GRCm39)	V64A	probably damaging	Het
Oga	A	G	19: 45,750,682 (GRCm39)	F671S	probably damaging	Het
Or2t49	A	G	11: 58,393,211 (GRCm39)	L57P	probably damaging	Het
Or8b3b	T	A	9: 38,584,564 (GRCm39)	M72L	probably damaging	Het
Pcca	A	G	14: 123,126,945 (GRCm39)	D718G	probably damaging	Het
Pde6a	A	C	18: 61,397,326 (GRCm39)	D670A	probably damaging	Het
Pramel7	T	A	2: 87,320,417 (GRCm39)	E292V	probably benign	Het
Prmt9	A	C	8: 78,291,698 (GRCm39)	M357L	probably benign	Het
Ptgfr	A	T	3: 151,540,963 (GRCm39)	S182T	probably benign	Het
Rtraf	A	T	14: 19,866,260 (GRCm39)	M152K	possibly damaging	Het
Satb1	T	C	17: 52,049,717 (GRCm39)	D579G	possibly damaging	Het
Slc5a9	T	C	4: 111,747,497 (GRCm39)	I297V	possibly damaging	Het
Slf1	T	A	13: 77,195,223 (GRCm39)		probably benign	Het
St8sia2	C	T	7: 73,616,559 (GRCm39)	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,666,243 (GRCm39)	M262V	probably benign	Het
Tmem147	A	G	7: 30,428,847 (GRCm39)		probably benign	Het
Tmem220	A	G	11: 66,924,933 (GRCm39)		probably null	Het
Uspl1	A	G	5: 149,125,156 (GRCm39)	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 123,037,591 (GRCm39)	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,189,945 (GRCm39)	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,519,940 (GRCm39)	M57K	probably benign	Het

Other mutations in Serpinb6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18