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

ovalbumin, D330015H01Rik, 4930482L21Rik, Spi3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

33917918-34002794 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 33931470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126162 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000167237

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: 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: 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: 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

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: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	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
IGL02795:Serpinb6a	APN	13	33931593	missense	probably damaging	1.00
IGL02885:Serpinb6a	APN	13	33918799	missense	probably benign	0.11
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