Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00715:Serpinb6a'

13980

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 #

IGL00715

Quality Score

Status

Chromosome

Chromosomal Location

34101901-34186777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34115495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 42 (F42S)

Ref Sequence

ENSEMBL: ENSMUSP00000126162 (fasta)

Gene Model

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

AlphaFold

Q60854

Predicted Effect

probably benign
Transcript: ENSMUST00000017188
AA Change: F63S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: F63S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043552
AA Change: F42S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076532
AA Change: F42S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147622

Predicted Effect

probably benign
Transcript: ENSMUST00000164627
AA Change: F42S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166354
AA Change: F42S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126287
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167163
AA Change: F42S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171252
AA Change: F42S

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170991
AA Change: F42S

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168350
AA Change: F42S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171034
AA Change: F42S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168400
AA Change: F42S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147
AA Change: F42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167260
AA Change: F42S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
AA Change: F42S

Domain	Start	End	E-Value	Type
SERPIN	13	193	1.34e-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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	C	T	1: 125,322,813 (GRCm39)	A385T	probably damaging	Het
Cdh17	A	T	4: 11,797,780 (GRCm39)		probably benign	Het
Cntnap1	C	T	11: 101,074,031 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,164 (GRCm39)	M296L	probably damaging	Het
Fmo2	T	A	1: 162,716,282 (GRCm39)	K102*	probably null	Het
Foxn3	T	C	12: 99,162,866 (GRCm39)	E345G	possibly damaging	Het
Gabrg1	A	G	5: 70,973,298 (GRCm39)		probably null	Het
Gp1ba	A	C	11: 70,530,744 (GRCm39)		probably benign	Het
Grwd1	A	G	7: 45,480,037 (GRCm39)	Y57H	probably damaging	Het
Hars2	G	A	18: 36,918,989 (GRCm39)	C83Y	probably damaging	Het
Il5ra	C	T	6: 106,689,435 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,302,603 (GRCm39)	V87A	probably benign	Het
Lrig2	A	G	3: 104,371,264 (GRCm39)	V455A	probably damaging	Het
P2ry10	T	A	X: 106,146,189 (GRCm39)	S41R	probably damaging	Het
Plcb2	C	T	2: 118,544,215 (GRCm39)		probably null	Het
Plod2	G	A	9: 92,480,667 (GRCm39)	R420H	probably damaging	Het
Prkcd	T	C	14: 30,317,960 (GRCm39)	N656S	probably damaging	Het
Sis	A	G	3: 72,841,457 (GRCm39)	I786T	probably damaging	Het
Slc5a11	C	T	7: 122,849,397 (GRCm39)	A194V	probably null	Het
Spo11	T	C	2: 172,830,825 (GRCm39)		probably null	Het
Trap1a	A	G	X: 138,234,983 (GRCm39)	D94G	unknown	Het
Urb1	A	G	16: 90,550,209 (GRCm39)		probably null	Het
Usp1	T	C	4: 98,822,818 (GRCm39)		probably null	Het
Zfp300	T	C	X: 20,950,493 (GRCm39)	D34G	probably damaging	Het
Zfp507	T	C	7: 35,494,137 (GRCm39)	E302G	possibly damaging	Het

Other mutations in Serpinb6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06