Mutagenetix > Incidental Mutation

Incidental Mutation 'R9340:Serpinb1c'

707467

Institutional Source

Beutler Lab

Gene Symbol

Serpinb1c

Ensembl Gene

ENSMUSG00000079049

Gene Name

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

Synonyms

EIC, ovalbumin

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9340 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33065417-33082194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33066172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 258 (C258S)

Ref Sequence

ENSEMBL: ENSMUSP00000021834 (fasta)

Gene Model

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

AlphaFold

Q5SV42

Predicted Effect

probably benign
Transcript: ENSMUST00000021834
AA Change: C258S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: C258S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221019

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,001,647 (GRCm39)	M58L	probably benign	Het
Abca8b	A	G	11: 109,840,939 (GRCm39)	V1078A	probably benign	Het
Acvr2b	A	G	9: 119,257,492 (GRCm39)	D175G	probably damaging	Het
Adad2	A	G	8: 120,339,769 (GRCm39)	M84V	probably benign	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ahsa1	T	C	12: 87,315,053 (GRCm39)	S69P	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Antxr2	G	T	5: 98,086,306 (GRCm39)	P434T	probably damaging	Het
Arap1	T	C	7: 101,037,382 (GRCm39)	Y470H	probably damaging	Het
Baz1a	A	G	12: 54,963,372 (GRCm39)	I907T	probably damaging	Het
Baz1b	A	T	5: 135,246,729 (GRCm39)	Q726L	probably benign	Het
Bcar3	C	T	3: 122,298,462 (GRCm39)		probably benign	Het
Bean1	C	T	8: 104,908,739 (GRCm39)	R39C	probably damaging	Het
Cass4	A	T	2: 172,268,686 (GRCm39)	N256I	possibly damaging	Het
Cnot10	T	C	9: 114,460,897 (GRCm39)	K91R	probably benign	Het
Col6a6	C	T	9: 105,651,757 (GRCm39)	V1085M	probably damaging	Het
Dpf3	A	G	12: 83,534,449 (GRCm39)		probably null	Het
Dync1i2	T	A	2: 71,093,019 (GRCm39)	W605R	probably damaging	Het
Exoc5	A	T	14: 49,286,297 (GRCm39)	V110E	probably damaging	Het
Fgfr2	T	A	7: 129,782,136 (GRCm39)	H563L	probably damaging	Het
Fosl2	A	G	5: 32,304,379 (GRCm39)	T105A	probably benign	Het
Fsip2	A	G	2: 82,818,604 (GRCm39)	H4779R	possibly damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Galnt13	G	A	2: 54,770,161 (GRCm39)	E318K	probably damaging	Het
Hc	G	A	2: 34,876,294 (GRCm39)	T1584I	probably damaging	Het
Helb	T	C	10: 119,928,556 (GRCm39)	K762E	probably damaging	Het
Hspg2	T	G	4: 137,296,827 (GRCm39)	L4335R	probably damaging	Het
Ift88	A	C	14: 57,718,920 (GRCm39)	Q635P	probably damaging	Het
Inpp5a	C	A	7: 138,969,380 (GRCm39)	D25E	probably benign	Het
Kcnu1	A	G	8: 26,376,786 (GRCm39)	T387A	possibly damaging	Het
Lamb1	G	A	12: 31,374,223 (GRCm39)	D1529N	probably benign	Het
Lamb1	A	T	12: 31,374,224 (GRCm39)	D1529V	probably benign	Het
Lnx1	T	C	5: 74,758,584 (GRCm39)	N476S	probably benign	Het
Mup17	T	C	4: 61,512,633 (GRCm39)	M87V	probably benign	Het
Naip6	G	A	13: 100,452,494 (GRCm39)	T189I	probably damaging	Het
Nf1	T	A	11: 79,447,629 (GRCm39)	Y462N	possibly damaging	Het
Nup133	T	C	8: 124,664,881 (GRCm39)	D270G	probably benign	Het
Obox2	T	C	7: 15,130,789 (GRCm39)	L7S	probably damaging	Het
Obox6	A	T	7: 15,567,722 (GRCm39)	S242T	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Pigyl	C	T	9: 22,069,130 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,369,649 (GRCm39)	V891A	probably damaging	Het
Rxrg	A	G	1: 167,458,890 (GRCm39)	D292G	possibly damaging	Het
Saal1	A	G	7: 46,351,248 (GRCm39)	F243L	probably benign	Het
Sec24c	G	A	14: 20,729,598 (GRCm39)	V59M	probably benign	Het
Sema4f	C	A	6: 82,890,890 (GRCm39)	G639V	probably damaging	Het
Snx21	CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG	CACCTGCAGG	2: 164,633,849 (GRCm39)		probably benign	Het
Syndig1	T	C	2: 149,845,175 (GRCm39)	S233P	probably damaging	Het
Taf6l	A	T	19: 8,752,636 (GRCm39)	L377M	probably damaging	Het
Tcl1	T	C	12: 105,184,979 (GRCm39)	Y77C	probably damaging	Het
Tekt2	C	A	4: 126,216,952 (GRCm39)	M272I	probably benign	Het
Trp53bp1	T	C	2: 121,100,460 (GRCm39)	E98G	probably benign	Het
Ubr4	T	A	4: 139,182,763 (GRCm39)	I383N	unknown	Het
Wdr89	G	T	12: 75,679,937 (GRCm39)	P106T	probably benign	Het
Zfp534	T	C	4: 147,758,698 (GRCm39)	E657G	possibly damaging	Het
Zfp69	T	C	4: 120,788,013 (GRCm39)	K434R	probably damaging	Het
Zfyve26	T	A	12: 79,321,680 (GRCm39)	K980*	probably null	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
IGL00497: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

Predicted Primers

PCR Primer
(F):5'- ATGGCAGCATCTGTCTCTG -3'
(R):5'- TGGTGCTATATTCCATCAGCGG -3'

Sequencing Primer
(F):5'- CACATAGGACTTGTGAACAATTTTTG -3'
(R):5'- CTATGTGGAACCTGTTTGAG -3'

Posted On

2022-04-18