Mutagenetix > Incidental Mutation

Incidental Mutation 'R4486:Serpina1c'

331629

Institutional Source

Beutler Lab

Gene Symbol

Serpina1c

Ensembl Gene

ENSMUSG00000079015

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1C

Synonyms

PI3, Spi1-3, PI6, Spi1-6

MMRRC Submission

041742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103861185-103871146 bp(-) (GRCm39)

Type of Mutation

splice site (41 bp from exon)

DNA Base Change (assembly)

T to A at 103863259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074051]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000074051

SMART Domains

Protein: ENSMUSP00000073695
Gene: ENSMUSG00000079015

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	5.23e-201	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130054

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Adam22	A	T	5: 8,230,227 (GRCm39)		probably benign	Het
Adamts18	G	T	8: 114,439,825 (GRCm39)	P923T	probably benign	Het
Ank3	C	T	10: 69,837,804 (GRCm39)	T1604I	possibly damaging	Het
Armc10	A	G	5: 21,858,432 (GRCm39)	Q159R	probably damaging	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
B4galt3	A	G	1: 171,099,343 (GRCm39)	T36A	possibly damaging	Het
Bbx	A	G	16: 50,020,777 (GRCm39)	V799A	probably damaging	Het
Bud23	T	C	5: 135,092,779 (GRCm39)		probably null	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp4f39	T	A	17: 32,702,428 (GRCm39)	D308E	probably damaging	Het
Dnah6	A	G	6: 73,015,729 (GRCm39)	V3584A	probably damaging	Het
Ecpas	A	G	4: 58,820,086 (GRCm39)		probably benign	Het
Frk	T	C	10: 34,484,377 (GRCm39)	I450T	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Hyi	G	A	4: 118,219,674 (GRCm39)	G237D	probably damaging	Het
Jrkl	T	C	9: 13,245,376 (GRCm39)	N95S	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Nanog	T	C	6: 122,689,676 (GRCm39)		probably null	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Or6c76b	T	C	10: 129,692,567 (GRCm39)	F60S	probably damaging	Het
Pcdha3	T	C	18: 37,080,404 (GRCm39)	V382A	probably damaging	Het
Pla2g4c	T	A	7: 13,071,676 (GRCm39)	N165K	probably benign	Het
Rexo5	T	C	7: 119,424,800 (GRCm39)	I362T	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rpusd2	T	C	2: 118,865,705 (GRCm39)	V134A	probably damaging	Het
Slc6a19	A	T	13: 73,829,836 (GRCm39)	I606N	probably damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Tas2r143	A	G	6: 42,377,628 (GRCm39)	M153V	probably benign	Het
Thrb	G	T	14: 17,925,640 (GRCm38)	M1I	probably null	Het
Trbc2	A	G	6: 41,523,814 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,087,651 (GRCm39)	S587R	probably benign	Het
Ulbp1	T	A	10: 7,397,397 (GRCm39)	H151L	probably benign	Het
Vmn2r54	A	T	7: 12,366,199 (GRCm39)	L245*	probably null	Het
Vmn2r78	A	C	7: 86,569,959 (GRCm39)		probably null	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het
Xrcc4	A	C	13: 90,140,707 (GRCm39)	S167R	possibly damaging	Het
Zfp994	C	T	17: 22,420,541 (GRCm39)	C136Y	probably damaging	Het

Other mutations in Serpina1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01905:Serpina1c	APN	12	103,863,318 (GRCm39)	missense	possibly damaging	0.84
IGL02220:Serpina1c	APN	12	103,862,338 (GRCm39)	missense	probably damaging	1.00
IGL02250:Serpina1c	APN	12	103,863,487 (GRCm39)	missense	probably benign	0.42
R0077:Serpina1c	UTSW	12	103,862,350 (GRCm39)	missense	probably benign	0.00
R0117:Serpina1c	UTSW	12	103,861,271 (GRCm39)	makesense	probably null
R1843:Serpina1c	UTSW	12	103,861,282 (GRCm39)	missense	probably benign	0.28
R2196:Serpina1c	UTSW	12	103,862,370 (GRCm39)	missense	probably damaging	0.99
R4261:Serpina1c	UTSW	12	103,863,339 (GRCm39)	missense	probably benign	0.03
R4572:Serpina1c	UTSW	12	103,864,967 (GRCm39)	intron	probably benign
R4910:Serpina1c	UTSW	12	103,861,291 (GRCm39)	missense	probably benign	0.05
R5036:Serpina1c	UTSW	12	103,865,085 (GRCm39)	missense	probably damaging	0.99
R6209:Serpina1c	UTSW	12	103,863,429 (GRCm39)	missense	probably damaging	1.00
R7533:Serpina1c	UTSW	12	103,863,566 (GRCm39)	missense	probably damaging	1.00
R7618:Serpina1c	UTSW	12	103,865,029 (GRCm39)	missense	probably damaging	1.00
R8424:Serpina1c	UTSW	12	103,862,296 (GRCm39)	missense	possibly damaging	0.59
R8902:Serpina1c	UTSW	12	103,865,117 (GRCm39)	missense	probably damaging	1.00
R9145:Serpina1c	UTSW	12	103,862,400 (GRCm39)	missense	possibly damaging	0.61
R9173:Serpina1c	UTSW	12	103,862,328 (GRCm39)	missense	possibly damaging	0.72
X0027:Serpina1c	UTSW	12	103,863,331 (GRCm39)	missense	probably benign	0.00
X0064:Serpina1c	UTSW	12	103,862,262 (GRCm39)	critical splice donor site	probably null
Z1176:Serpina1c	UTSW	12	103,863,402 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TCCAGGTAGCTCATGGTTTCTC -3'
(R):5'- TGCTGATGGATTATGCAGGC -3'

Sequencing Primer
(F):5'- AGCTCATGGTTTCTCACAGGCAG -3'
(R):5'- GCAATGCCACTGCTGTCTTC -3'

Posted On

2015-07-21