Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00497:Serpinb1c'

277680

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

EIC, ovalbumin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

IGL00497

Quality Score

Status

Chromosome

Chromosomal Location

33065417-33082194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33067958 bp (GRCm39)

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]

AlphaFold

Q5SV42

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	G	A	3: 79,538,598 (GRCm39)		probably benign	Het
Aatk	C	T	11: 119,901,012 (GRCm39)	R1128Q	probably benign	Het
Acot6	C	T	12: 84,156,212 (GRCm39)	R387C	probably damaging	Het
Adam11	A	G	11: 102,660,973 (GRCm39)	E118G	probably damaging	Het
Adcyap1r1	G	A	6: 55,449,264 (GRCm39)	V73I	probably damaging	Het
Apol8	T	C	15: 77,634,214 (GRCm39)	T121A	probably damaging	Het
Bltp2	A	G	11: 78,163,759 (GRCm39)	N1076D	probably damaging	Het
Ccdc91	C	A	6: 147,508,485 (GRCm39)	Q404K	unknown	Het
Cpt1b	T	C	15: 89,306,496 (GRCm39)	K294R	probably benign	Het
Dnah6	A	C	6: 73,172,744 (GRCm39)	V238G	probably damaging	Het
Dscaml1	T	C	9: 45,663,536 (GRCm39)	S1920P	probably damaging	Het
Gcfc2	A	T	6: 81,934,951 (GRCm39)	I737L	probably benign	Het
Gmeb1	A	G	4: 131,955,296 (GRCm39)	V293A	probably benign	Het
Gpi-ps	T	C	8: 5,690,563 (GRCm39)		noncoding transcript	Het
Hibch	A	G	1: 52,924,349 (GRCm39)		probably benign	Het
Ifnab	A	G	4: 88,609,419 (GRCm39)	Y16H	probably benign	Het
Il17rc	T	C	6: 113,451,132 (GRCm39)	V155A	probably damaging	Het
Lrr1	A	G	12: 69,221,356 (GRCm39)	H166R	probably benign	Het
Map4k5	G	T	12: 69,892,506 (GRCm39)	A141E	probably damaging	Het
Mettl17	A	T	14: 52,126,292 (GRCm39)	K233N	probably damaging	Het
Mon2	A	G	10: 122,862,204 (GRCm39)	L740S	probably damaging	Het
Mpdz	A	C	4: 81,253,979 (GRCm39)	I1051S	probably benign	Het
Mroh8	A	G	2: 157,058,834 (GRCm39)	F944S	probably damaging	Het
Myh13	A	G	11: 67,233,314 (GRCm39)	Y611C	probably damaging	Het
Npat	A	G	9: 53,478,100 (GRCm39)	N951D	possibly damaging	Het
Osmr	T	C	15: 6,876,547 (GRCm39)	S126G	probably benign	Het
Parp14	T	C	16: 35,655,206 (GRCm39)	Y1755C	probably damaging	Het
Phf14	T	C	6: 11,941,423 (GRCm39)		probably benign	Het
Prex2	T	A	1: 11,256,876 (GRCm39)	M1196K	possibly damaging	Het
Prkd1	A	T	12: 50,430,264 (GRCm39)	D614E	probably damaging	Het
Ptprm	A	G	17: 67,124,967 (GRCm39)	L794P	probably damaging	Het
Rb1	C	T	14: 73,502,038 (GRCm39)	R449H	probably damaging	Het
Scfd1	A	G	12: 51,474,652 (GRCm39)	D469G	probably benign	Het
Sgo1	A	G	17: 53,984,130 (GRCm39)		probably benign	Het
Slc11a1	A	G	1: 74,421,057 (GRCm39)		probably null	Het
Snw1	A	G	12: 87,499,350 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,339,533 (GRCm39)	I143T	probably damaging	Het
Tcta	A	T	9: 108,183,115 (GRCm39)	L10Q	probably damaging	Het
Tha1	T	C	11: 117,761,831 (GRCm39)		probably benign	Het
Trmt1	T	C	8: 85,422,138 (GRCm39)	M254T	possibly damaging	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Zfyve28	A	G	5: 34,400,539 (GRCm39)	V53A	probably damaging	Het

Other mutations in Serpinb1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00490:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00501:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00567:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00575:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00585:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00586:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00588:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00589:Serpinb1c	APN	13	33,067,958 (GRCm39)	missense	probably damaging	0.99
IGL00983:Serpinb1c	APN	13	33,068,207 (GRCm39)	missense	possibly damaging	0.52
IGL01589:Serpinb1c	APN	13	33,070,155 (GRCm39)	missense	probably damaging	1.00
IGL03393:Serpinb1c	APN	13	33,066,044 (GRCm39)	missense	probably damaging	1.00
R0096:Serpinb1c	UTSW	13	33,070,266 (GRCm39)	splice site	probably benign
R0711:Serpinb1c	UTSW	13	33,070,266 (GRCm39)	splice site	probably benign
R1222:Serpinb1c	UTSW	13	33,080,934 (GRCm39)	missense	possibly damaging	0.53
R1301:Serpinb1c	UTSW	13	33,080,943 (GRCm39)	nonsense	probably null
R1570:Serpinb1c	UTSW	13	33,080,973 (GRCm39)	missense	probably benign	0.05
R1574:Serpinb1c	UTSW	13	33,072,979 (GRCm39)	missense	possibly damaging	0.89
R1574:Serpinb1c	UTSW	13	33,072,979 (GRCm39)	missense	possibly damaging	0.89
R1891:Serpinb1c	UTSW	13	33,068,235 (GRCm39)	missense	probably benign	0.35
R4932:Serpinb1c	UTSW	13	33,066,147 (GRCm39)	missense	probably damaging	1.00
R5831:Serpinb1c	UTSW	13	33,081,081 (GRCm39)	start codon destroyed	probably null	1.00
R6010:Serpinb1c	UTSW	13	33,066,042 (GRCm39)	missense	probably damaging	1.00
R6701:Serpinb1c	UTSW	13	33,080,924 (GRCm39)	missense	probably benign	0.37
R7522:Serpinb1c	UTSW	13	33,066,200 (GRCm39)	missense	probably benign	0.04
R7945:Serpinb1c	UTSW	13	33,070,192 (GRCm39)	missense	probably benign	0.01
R8050:Serpinb1c	UTSW	13	33,066,052 (GRCm39)	nonsense	probably null
R8155:Serpinb1c	UTSW	13	33,081,038 (GRCm39)	missense	probably damaging	1.00
R9045:Serpinb1c	UTSW	13	33,066,027 (GRCm39)	missense	probably benign	0.31
R9340:Serpinb1c	UTSW	13	33,066,172 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16