Mutagenetix > Incidental Mutation

Incidental Mutation 'R6149:Serpinb6a'

489093

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6a

Ensembl Gene

ENSMUSG00000060147

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6a

Synonyms

D330015H01Rik, ovalbumin, 4930482L21Rik, Spi3

MMRRC Submission

044296-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34101901-34186777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34102343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 273 (L273H)

Ref Sequence

ENSEMBL: ENSMUSP00000131115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017188] [ENSMUST00000043552] [ENSMUST00000076532] [ENSMUST00000167163] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000171034] [ENSMUST00000171252]

AlphaFold

Q60854

Predicted Effect

probably damaging
Transcript: ENSMUST00000017188
AA Change: L294H

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

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147
AA Change: L294H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043552
AA Change: L273H

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

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147
AA Change: L273H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076532
AA Change: L273H

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

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147
AA Change: L273H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167163
AA Change: L273H

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

SMART Domains

Protein: ENSMUSP00000131115
Gene: ENSMUSG00000060147
AA Change: L273H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167260

SMART Domains

Protein: ENSMUSP00000127768
Gene: ENSMUSG00000060147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168350

SMART Domains

Protein: ENSMUSP00000130356
Gene: ENSMUSG00000060147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171034

SMART Domains

Protein: ENSMUSP00000132433
Gene: ENSMUSG00000060147

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171951

Predicted Effect

probably benign
Transcript: ENSMUST00000171252

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147

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

Meta Mutation Damage Score

0.9567

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,777,211 (GRCm39)	R115S	probably benign	Het
Adgre1	A	G	17: 57,752,018 (GRCm39)	K589E	probably benign	Het
Adgrv1	A	T	13: 81,330,893 (GRCm39)	L74Q	probably damaging	Het
Avil	A	G	10: 126,842,451 (GRCm39)	I77V	probably benign	Het
Best2	T	C	8: 85,739,896 (GRCm39)	E57G	probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,516,098 (GRCm39)	I578K	probably damaging	Het
Chsy1	A	G	7: 65,775,133 (GRCm39)	Y154C	probably damaging	Het
Chuk	A	G	19: 44,090,270 (GRCm39)	V74A	probably damaging	Het
Ckb	T	C	12: 111,638,248 (GRCm39)	S49G	probably damaging	Het
Crtac1	A	G	19: 42,272,048 (GRCm39)	Y632H	unknown	Het
Ern1	C	A	11: 106,296,641 (GRCm39)	E770*	probably null	Het
Fam114a2	A	C	11: 57,378,415 (GRCm39)	V450G	probably benign	Het
Fgf15	C	T	7: 144,453,506 (GRCm39)	Q125*	probably null	Het
Frem2	A	T	3: 53,458,762 (GRCm39)	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,540,030 (GRCm39)	V296I	probably benign	Het
Gm15264	C	A	3: 94,640,736 (GRCm39)		noncoding transcript	Het
Ifi213	A	T	1: 173,421,581 (GRCm39)	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,940,472 (GRCm39)	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,530,969 (GRCm39)	Y435C	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lcor	T	A	19: 41,573,641 (GRCm39)	W799R	probably damaging	Het
Lnp1	C	T	16: 56,737,735 (GRCm39)	E118K	probably benign	Het
Lrif1	A	C	3: 106,639,643 (GRCm39)	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,765,165 (GRCm39)		probably null	Het
Lvrn	G	A	18: 47,017,499 (GRCm39)	V610I	probably benign	Het
Med1	T	C	11: 98,074,679 (GRCm39)	K67R	possibly damaging	Het
Midn	T	C	10: 79,990,291 (GRCm39)	S278P	probably damaging	Het
Nrap	A	G	19: 56,377,885 (GRCm39)	V35A	possibly damaging	Het
Nynrin	A	T	14: 56,091,780 (GRCm39)	Q32L	possibly damaging	Het
Oog1	C	T	12: 87,653,043 (GRCm39)	T113I	possibly damaging	Het
Or10ak7	A	G	4: 118,791,628 (GRCm39)	L139P	probably damaging	Het
Or10j3	G	T	1: 173,031,582 (GRCm39)	V220F	probably benign	Het
Or4x11	C	T	2: 89,867,860 (GRCm39)	A199V	probably benign	Het
Or5b21	A	T	19: 12,839,723 (GRCm39)	I195F	probably benign	Het
Or6a2	T	C	7: 106,600,807 (GRCm39)	I87V	probably benign	Het
Otogl	C	T	10: 107,717,314 (GRCm39)	V386I	probably benign	Het
Patj	A	G	4: 98,312,562 (GRCm39)	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,612,208 (GRCm39)	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,939 (GRCm39)	I699V	probably benign	Het
Pfas	A	G	11: 68,882,771 (GRCm39)	V790A	probably benign	Het
Plppr4	A	T	3: 117,116,043 (GRCm39)	C605S	probably benign	Het
Ppl	G	A	16: 4,925,460 (GRCm39)	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,586,810 (GRCm39)	K52R	possibly damaging	Het
Pramel29	A	G	4: 143,933,983 (GRCm39)	S375P	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rpe65	G	A	3: 159,319,780 (GRCm39)	E217K	probably benign	Het
Rufy4	T	C	1: 74,186,892 (GRCm39)	I560T	probably benign	Het
Ryr2	T	C	13: 11,683,903 (GRCm39)	S3054G	probably benign	Het
Sf3b1	A	T	1: 55,046,666 (GRCm39)	W293R	probably damaging	Het
Sik1	A	T	17: 32,067,771 (GRCm39)	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,540,401 (GRCm39)	M85I	probably benign	Het
Stk36	T	C	1: 74,673,388 (GRCm39)	S1094P	probably benign	Het
Tctn1	A	T	5: 122,384,649 (GRCm39)	Y393N	probably benign	Het
Tex9	C	T	9: 72,369,282 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,899,942 (GRCm39)		probably null	Het
Tmprss7	A	T	16: 45,494,268 (GRCm39)	C412*	probably null	Het
Tpp1	T	C	7: 105,396,934 (GRCm39)	T399A	probably benign	Het
Trim25	T	A	11: 88,906,362 (GRCm39)	V387D	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vill	T	G	9: 118,887,482 (GRCm39)	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,286,054 (GRCm39)	D261G	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r111	G	A	17: 22,767,796 (GRCm39)	T567I	probably benign	Het
Vmn2r60	A	G	7: 41,786,400 (GRCm39)	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,566,613 (GRCm39)	R69*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCACCTCACCGTCATCATG -3'
(R):5'- ATAATAGGTTACAGCCACACTTCCC -3'

Sequencing Primer
(F):5'- TCATCATGCCAGCTGTAGCAG -3'
(R):5'- CCCTGGGCACTGTAGAATGTTAC -3'

Posted On

2017-10-10