Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01859:Serpinb12'

178264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb12

Ensembl Gene

ENSMUSG00000059956

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

106934449-106957080 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 106953834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081277] [ENSMUST00000112724]

AlphaFold

Q9D7P9

Predicted Effect

probably null
Transcript: ENSMUST00000081277

SMART Domains

Protein: ENSMUSP00000080030
Gene: ENSMUSG00000059956

Domain	Start	End	E-Value	Type
SERPIN	13	423	5.88e-154	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112724

SMART Domains

Protein: ENSMUSP00000108344
Gene: ENSMUSG00000059956

Domain	Start	End	E-Value	Type
SERPIN	13	423	5.88e-154	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126812

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,086,137		probably benign	Het
Ak7	A	G	12: 105,745,297	M398V	probably null	Het
Angptl3	C	T	4: 99,037,432	R332*	probably null	Het
Ano7	A	G	1: 93,394,446	Y392C	probably damaging	Het
Arpc1b	T	C	5: 145,123,730	F18L	probably damaging	Het
Cdc23	G	T	18: 34,651,406	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,760,129	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,988,721	D822G	probably damaging	Het
Col6a5	G	A	9: 105,930,961	R963*	probably null	Het
Crocc	T	C	4: 141,029,290	D1008G	probably benign	Het
Dntt	G	T	19: 41,037,304	M120I	probably benign	Het
Dock1	A	G	7: 135,077,161	Y1003C	possibly damaging	Het
Fam178b	T	A	1: 36,659,365	R92W	probably damaging	Het
Fermt2	A	G	14: 45,459,956	V646A	possibly damaging	Het
Foxc1	T	C	13: 31,808,723	S506P	unknown	Het
Gm11127	A	T	17: 36,058,011	M59K	possibly damaging	Het
Gtpbp1	T	A	15: 79,719,140	V610E	probably benign	Het
Hsdl2	T	C	4: 59,601,569		probably null	Het
Itgb8	T	A	12: 119,189,945	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,721,788	D953V	probably benign	Het
Med13	A	T	11: 86,283,751	D1749E	possibly damaging	Het
Mocos	G	T	18: 24,666,660		probably benign	Het
Pcdhb20	T	G	18: 37,504,563	N47K	probably damaging	Het
Phf21a	T	A	2: 92,328,356	F227L	probably damaging	Het
Piezo2	T	C	18: 63,092,844	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,182,733	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,509,449	I413T	probably damaging	Het
Ptgis	A	G	2: 167,214,806		probably null	Het
Rasgrp1	A	G	2: 117,289,418	V452A	probably benign	Het
Rbms3	T	A	9: 116,959,538	D105V	probably damaging	Het
Rnase1	C	A	14: 51,145,803	Q31H	probably benign	Het
Rnase13	G	T	14: 51,922,303	N126K	probably damaging	Het
Sema5b	G	T	16: 35,647,109	V248L	possibly damaging	Het
Slc4a11	A	T	2: 130,684,994	L738Q	probably damaging	Het
Spta1	A	T	1: 174,174,372	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,030,042		noncoding transcript	Het
Tcp1	A	G	17: 12,922,684	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,634,780	K518E	probably damaging	Het
Trim34a	A	G	7: 104,260,942	E317G	probably damaging	Het
Trit1	A	G	4: 123,049,551	S335G	probably benign	Het
Usp28	G	T	9: 49,024,021	E91*	probably null	Het
Vmn2r56	A	G	7: 12,716,005	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,477,517	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,849,540	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,243,719	N67S	probably benign	Het

Other mutations in Serpinb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Serpinb12	APN	1	106955490	critical splice donor site	probably null
R0380:Serpinb12	UTSW	1	106950821	critical splice donor site	probably null
R0525:Serpinb12	UTSW	1	106946702	missense	probably benign	0.00
R1720:Serpinb12	UTSW	1	106946614	missense	probably damaging	1.00
R4600:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4601:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4602:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4610:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4611:Serpinb12	UTSW	1	106949153	missense	probably benign	0.00
R4852:Serpinb12	UTSW	1	106956402	missense	probably benign	0.02
R5327:Serpinb12	UTSW	1	106956444	missense	probably damaging	0.99
R5495:Serpinb12	UTSW	1	106956421	missense	probably damaging	0.98
R5601:Serpinb12	UTSW	1	106953697	missense	probably damaging	1.00
R5681:Serpinb12	UTSW	1	106946701	missense	probably benign	0.00
R6329:Serpinb12	UTSW	1	106953763	missense	probably damaging	1.00
R6723:Serpinb12	UTSW	1	106949158	missense	probably benign
R7514:Serpinb12	UTSW	1	106950804	missense	probably damaging	0.97
R7559:Serpinb12	UTSW	1	106953723	missense	probably damaging	0.97
R7751:Serpinb12	UTSW	1	106949671	missense	probably damaging	1.00
R7873:Serpinb12	UTSW	1	106953739	missense	probably damaging	1.00
R8371:Serpinb12	UTSW	1	106956405	missense	probably benign	0.30
R8465:Serpinb12	UTSW	1	106956612	missense	probably damaging	0.98
R9555:Serpinb12	UTSW	1	106956615	missense	probably damaging	1.00

Posted On

2014-05-07