Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Serpinb1c'

277648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb1c

Ensembl Gene

ENSMUSG00000079049

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 1c

Synonyms

ovalbumin, EIC

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

32881434-32898211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32883975 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 213 (K213E)

Ref Sequence

ENSEMBL: ENSMUSP00000021834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021834] [ENSMUST00000221019]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021834
AA Change: K213E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: K213E

Domain	Start	End	E-Value	Type
SERPIN	13	375	1.67e-167	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221019

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Serpinb1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00497:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00501:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00567:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00575:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00585:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00586:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00588:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00589:Serpinb1c	APN	13	32883975	missense	probably damaging	0.99
IGL00983:Serpinb1c	APN	13	32884224	missense	possibly damaging	0.52
IGL01589:Serpinb1c	APN	13	32886172	missense	probably damaging	1.00
IGL03393:Serpinb1c	APN	13	32882061	missense	probably damaging	1.00
R0096:Serpinb1c	UTSW	13	32886283	splice site	probably benign
R0711:Serpinb1c	UTSW	13	32886283	splice site	probably benign
R1222:Serpinb1c	UTSW	13	32896951	missense	possibly damaging	0.53
R1301:Serpinb1c	UTSW	13	32896960	nonsense	probably null
R1570:Serpinb1c	UTSW	13	32896990	missense	probably benign	0.05
R1574:Serpinb1c	UTSW	13	32888996	missense	possibly damaging	0.89
R1574:Serpinb1c	UTSW	13	32888996	missense	possibly damaging	0.89
R1891:Serpinb1c	UTSW	13	32884252	missense	probably benign	0.35
R4932:Serpinb1c	UTSW	13	32882164	missense	probably damaging	1.00
R5831:Serpinb1c	UTSW	13	32897098	start codon destroyed	probably null	1.00
R6010:Serpinb1c	UTSW	13	32882059	missense	probably damaging	1.00
R6701:Serpinb1c	UTSW	13	32896941	missense	probably benign	0.37
R7522:Serpinb1c	UTSW	13	32882217	missense	probably benign	0.04
R7945:Serpinb1c	UTSW	13	32886209	missense	probably benign	0.01
R8050:Serpinb1c	UTSW	13	32882069	nonsense	probably null
R8155:Serpinb1c	UTSW	13	32897055	missense	probably damaging	1.00

Posted On

2015-04-16