Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Serpina3c'

487052

Institutional Source

Beutler Lab

Gene Symbol

Serpina3c

Ensembl Gene

ENSMUSG00000066361

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 3C

Synonyms

1A1, Klkbp, alpha-1 antiproteinase, Kalbp

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104113166-104120187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104115690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 285 (V285L)

Ref Sequence

ENSEMBL: ENSMUSP00000082125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085050]

AlphaFold

P29621

Predicted Effect

probably benign
Transcript: ENSMUST00000085050
AA Change: V285L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: V285L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	414	1.26e-194	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Serpina3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Serpina3c	APN	12	104,118,198 (GRCm39)	missense	possibly damaging	0.81
IGL03344:Serpina3c	APN	12	104,113,523 (GRCm39)	missense	probably benign
N/A:Serpina3c	UTSW	12	104,115,864 (GRCm39)	missense	probably benign	0.04
R0792:Serpina3c	UTSW	12	104,117,805 (GRCm39)	missense	probably damaging	1.00
R1522:Serpina3c	UTSW	12	104,117,805 (GRCm39)	missense	probably damaging	1.00
R1875:Serpina3c	UTSW	12	104,118,145 (GRCm39)	missense	probably damaging	1.00
R2168:Serpina3c	UTSW	12	104,115,628 (GRCm39)	splice site	probably null
R2207:Serpina3c	UTSW	12	104,117,757 (GRCm39)	missense	probably benign	0.00
R2887:Serpina3c	UTSW	12	104,113,549 (GRCm39)	missense	probably benign	0.03
R5115:Serpina3c	UTSW	12	104,113,651 (GRCm39)	missense	probably damaging	1.00
R5159:Serpina3c	UTSW	12	104,115,771 (GRCm39)	missense	possibly damaging	0.71
R5275:Serpina3c	UTSW	12	104,114,637 (GRCm39)	missense	probably damaging	1.00
R5295:Serpina3c	UTSW	12	104,114,637 (GRCm39)	missense	probably damaging	1.00
R5389:Serpina3c	UTSW	12	104,115,699 (GRCm39)	missense	possibly damaging	0.85
R5908:Serpina3c	UTSW	12	104,117,970 (GRCm39)	missense	probably benign	0.29
R6151:Serpina3c	UTSW	12	104,118,327 (GRCm39)	missense	possibly damaging	0.90
R6608:Serpina3c	UTSW	12	104,115,883 (GRCm39)	missense	probably benign	0.07
R6615:Serpina3c	UTSW	12	104,117,980 (GRCm39)	missense	possibly damaging	0.71
R6751:Serpina3c	UTSW	12	104,117,759 (GRCm39)	missense	probably damaging	1.00
R6777:Serpina3c	UTSW	12	104,118,069 (GRCm39)	missense	probably benign	0.26
R7232:Serpina3c	UTSW	12	104,115,771 (GRCm39)	missense	possibly damaging	0.71
R8129:Serpina3c	UTSW	12	104,118,056 (GRCm39)	missense	probably damaging	0.97
R9310:Serpina3c	UTSW	12	104,115,813 (GRCm39)	missense	probably benign	0.03
R9761:Serpina3c	UTSW	12	104,118,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGGAATTAAACTCAAGTCCACC -3'
(R):5'- AATCCCCGTGACACATTTGAG -3'

Sequencing Primer
(F):5'- GGAATTAAACTCAAGTCCACCTGTCC -3'
(R):5'- CCGTGACACATTTGAGTCAGAGTTC -3'

Posted On

2017-10-10