Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01983:Serpinb6c'

183541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb6c

Ensembl Gene

ENSMUSG00000052180

Gene Name

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

Synonyms

Spi3C, SPIC, ovalbumin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

33879816-33905708 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 33897334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110273] [ENSMUST00000172184] [ENSMUST00000222216]

AlphaFold

W4VSP4

Predicted Effect

probably benign
Transcript: ENSMUST00000110273

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180

Domain	Start	End	E-Value	Type
SERPIN	13	378	7.5e-170	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172184

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180

Domain	Start	End	E-Value	Type
SERPIN	14	379	7.5e-170	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222216

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	G	A	1: 66,841,624	Q328*	probably null	Het
Alpk2	T	C	18: 65,350,682	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,601,765	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,795,729	R22S	probably benign	Het
Clec7a	G	A	6: 129,465,576		probably benign	Het
Epb41l5	A	G	1: 119,579,084		probably benign	Het
Fam49b	A	G	15: 63,937,387	S251P	probably benign	Het
Gm10093	T	A	17: 78,492,853	D424E	probably benign	Het
Hydin	A	C	8: 110,514,895	I2106L	probably benign	Het
Igkv3-5	T	A	6: 70,663,686	D50E	probably benign	Het
Irf2bp1	G	T	7: 19,005,295	A287S	possibly damaging	Het
Ldb3	G	A	14: 34,577,199	S156L	probably benign	Het
Lnpep	A	T	17: 17,531,178	W942R	probably damaging	Het
Mst1r	T	A	9: 107,917,276	V1218D	probably damaging	Het
Naxd	G	T	8: 11,510,218		probably benign	Het
Nol9	T	C	4: 152,046,037		probably null	Het
Nus1	T	A	10: 52,436,657	L295Q	probably damaging	Het
Nxph2	A	G	2: 23,399,934	I99M	probably benign	Het
Plekhg1	T	A	10: 3,945,904	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974	L69S	probably damaging	Het
Pram1	C	A	17: 33,640,861	A134D	probably damaging	Het
Stk10	A	T	11: 32,589,460	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,190,709	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,863,779	V500I	probably benign	Het
Trim66	G	A	7: 109,458,251	R992*	probably null	Het
Unc45b	A	G	11: 82,936,861	D728G	probably benign	Het
Usp13	A	G	3: 32,917,459	D696G	probably damaging	Het
Utrn	C	T	10: 12,669,781	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,597,265	H368L	probably damaging	Het
Xrn1	T	C	9: 95,973,368		probably null	Het
Zfhx3	C	A	8: 108,947,234	L1639M	probably damaging	Het
Znfx1	A	T	2: 167,056,350	V218E	probably damaging	Het

Other mutations in Serpinb6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Serpinb6c	APN	13	33897338	splice site	probably null
IGL01900:Serpinb6c	APN	13	33880190	missense	possibly damaging	0.88
IGL03357:Serpinb6c	APN	13	33895386	missense	probably benign	0.08
R0208:Serpinb6c	UTSW	13	33897396	missense	probably benign
R0242:Serpinb6c	UTSW	13	33899247	splice site	probably benign
R0632:Serpinb6c	UTSW	13	33880031	missense	possibly damaging	0.86
R0669:Serpinb6c	UTSW	13	33899269	missense	probably damaging	0.98
R0848:Serpinb6c	UTSW	13	33899305	missense	probably damaging	1.00
R1657:Serpinb6c	UTSW	13	33880226	missense	probably benign	0.01
R3911:Serpinb6c	UTSW	13	33893905	missense	probably benign	0.00
R5135:Serpinb6c	UTSW	13	33880097	missense	probably damaging	1.00
R5275:Serpinb6c	UTSW	13	33893817	missense	probably damaging	1.00
R5295:Serpinb6c	UTSW	13	33893817	missense	probably damaging	1.00
R5700:Serpinb6c	UTSW	13	33899308	missense	probably damaging	1.00
R7490:Serpinb6c	UTSW	13	33893835	missense	probably benign	0.04
R7514:Serpinb6c	UTSW	13	33897403	nonsense	probably null
R7517:Serpinb6c	UTSW	13	33895295	missense	probably damaging	1.00
R7547:Serpinb6c	UTSW	13	33893892	missense	possibly damaging	0.80
R7730:Serpinb6c	UTSW	13	33899309	missense	probably damaging	1.00
R8121:Serpinb6c	UTSW	13	33880218	missense	probably benign	0.38
R8142:Serpinb6c	UTSW	13	33880113	missense	probably benign	0.00
R8745:Serpinb6c	UTSW	13	33880719	missense	probably benign	0.06
R8855:Serpinb6c	UTSW	13	33899326	missense	probably damaging	1.00
R8866:Serpinb6c	UTSW	13	33899326	missense	probably damaging	1.00
R9412:Serpinb6c	UTSW	13	33897388	missense	probably benign	0.00
X0063:Serpinb6c	UTSW	13	33880705	missense	possibly damaging	0.76
Z1088:Serpinb6c	UTSW	13	33893872	missense	probably damaging	1.00
Z1088:Serpinb6c	UTSW	13	33893923	missense	probably benign	0.01

Posted On

2014-05-07