Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Serpinb6a'

628693

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

045861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34101901-34186777 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 34119548 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] [ENSMUST00000167237] [ENSMUST00000167260] [ENSMUST00000168350] [ENSMUST00000168400] [ENSMUST00000170991] [ENSMUST00000171034] [ENSMUST00000171252] [ENSMUST00000171252] [ENSMUST00000171252]

AlphaFold

Q60854

Predicted Effect

probably benign
Transcript: ENSMUST00000017188

SMART Domains

Protein: ENSMUSP00000017188
Gene: ENSMUSG00000060147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043552

SMART Domains

Protein: ENSMUSP00000041016
Gene: ENSMUSG00000060147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076532

SMART Domains

Protein: ENSMUSP00000075848
Gene: ENSMUSG00000060147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164627

SMART Domains

Protein: ENSMUSP00000127224
Gene: ENSMUSG00000060147

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

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 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: ENSMUST00000168400

SMART Domains

Protein: ENSMUSP00000126450
Gene: ENSMUSG00000060147

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

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

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

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

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

probably null
Transcript: ENSMUST00000171252

SMART Domains

Protein: ENSMUSP00000126162
Gene: ENSMUSG00000060147

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Adk	A	G	14: 21,376,679 (GRCm39)	N26S		Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Fggy	G	A	4: 95,489,203 (GRCm39)	G69E	probably benign	Het
Foxc1	G	T	13: 31,992,739 (GRCm39)	G517C	unknown	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmppa	T	C	1: 75,415,581 (GRCm39)	L113P	probably damaging	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sbf1	A	G	15: 89,189,623 (GRCm39)	V419A	possibly damaging	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	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
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
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'- CCCAAAGATCTGGAATTGTTTCTC -3'
(R):5'- AAGTGAGTCGCCTTGTGATC -3'

Sequencing Primer
(F):5'- CACAAGTATTTATGTTTGTGGGCCTC -3'
(R):5'- AGCCATCTGGTGACATCGC -3'

Posted On

2020-06-10