Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01458:Serpinb6a'

84865

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 #

IGL01458

Quality Score

Status

Chromosome

Chromosomal Location

34101901-34186777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34114064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 88 (Y88H)

Ref Sequence

ENSEMBL: ENSMUSP00000130356 (fasta)

Gene Model

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

AlphaFold

Q60854

Predicted Effect

probably benign
Transcript: ENSMUST00000017188
AA Change: Y109H

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: Y109H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043552
AA Change: Y88H

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076532
AA Change: Y88H

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164627
AA Change: Y88H

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000167163
AA Change: Y88H

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167237

Predicted Effect

probably benign
Transcript: ENSMUST00000167260
AA Change: Y88H

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171034
AA Change: Y88H

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171985

Predicted Effect

probably benign
Transcript: ENSMUST00000168400
AA Change: Y88H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171252
AA Change: Y88H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168350
AA Change: Y88H

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147
AA Change: Y88H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170991

SMART Domains

Protein: ENSMUSP00000131900
Gene: ENSMUSG00000060147

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	A	T	9: 3,134,008 (GRCm39)		noncoding transcript	Het
Akap12	A	G	10: 4,304,060 (GRCm39)	E290G	probably damaging	Het
Akap6	T	A	12: 52,933,601 (GRCm39)	C364*	probably null	Het
Akr1c18	A	T	13: 4,187,143 (GRCm39)	Y198N	probably damaging	Het
Aurka	T	C	2: 172,210,899 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,135 (GRCm39)		probably null	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Csn2	T	C	5: 87,843,879 (GRCm39)		probably benign	Het
Dsc1	T	C	18: 20,232,195 (GRCm39)	E271G	probably damaging	Het
Eif1ad4	A	T	12: 87,862,158 (GRCm39)	K7*	probably null	Het
Evi5	G	A	5: 107,963,513 (GRCm39)	A354V	probably damaging	Het
Fcer2a	T	A	8: 3,738,151 (GRCm39)	R137S	probably benign	Het
Fto	A	G	8: 92,168,344 (GRCm39)	T266A	probably benign	Het
Fzd4	G	A	7: 89,053,943 (GRCm39)	V17I	unknown	Het
Gadd45b	T	C	10: 80,767,075 (GRCm39)	L105P	probably damaging	Het
Galntl6	T	C	8: 58,880,743 (GRCm39)	S137G	probably damaging	Het
Gpr135	T	C	12: 72,116,442 (GRCm39)	M442V	probably benign	Het
Kcnq1	T	A	7: 142,748,015 (GRCm39)	Y330*	probably null	Het
Kdm5b	A	G	1: 134,549,724 (GRCm39)	R1106G	possibly damaging	Het
Lrrc8e	C	T	8: 4,286,141 (GRCm39)	R789W	probably damaging	Het
Myo16	T	C	8: 10,485,853 (GRCm39)	L644P	probably damaging	Het
Nbeal1	G	T	1: 60,281,784 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10ag56	C	T	2: 87,139,826 (GRCm39)	T251I	probably damaging	Het
Or1e29	A	T	11: 73,667,532 (GRCm39)	I207N	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Ovgp1	A	G	3: 105,882,307 (GRCm39)	N70D	probably benign	Het
Panx3	A	T	9: 37,572,443 (GRCm39)	M369K	probably damaging	Het
Plet1	A	G	9: 50,406,017 (GRCm39)	N52S	probably benign	Het
Prss1l	T	G	6: 41,373,621 (GRCm39)	D161E	probably benign	Het
Psg18	A	T	7: 18,088,741 (GRCm39)	M1K	probably null	Het
Ptprz1	A	T	6: 22,972,843 (GRCm39)	D251V	probably damaging	Het
Siglecf	G	A	7: 43,004,562 (GRCm39)	R297Q	possibly damaging	Het
Tbx15	T	C	3: 99,223,544 (GRCm39)	V244A	probably damaging	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Trim39	A	G	17: 36,574,855 (GRCm39)		probably benign	Het
Vps37c	T	C	19: 10,687,781 (GRCm39)	C81R	probably damaging	Het
Wdr62	A	T	7: 29,941,187 (GRCm39)	S744T	probably benign	Het
Zyg11a	G	A	4: 108,062,099 (GRCm39)	T234I	probably damaging	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
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

2013-11-11