Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:Serpina3j'

308385

Institutional Source

Beutler Lab

Gene Symbol

Serpina3j

Ensembl Gene

ENSMUSG00000079013

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J

Synonyms

alpha-1 antiproteinase, Gm4931

MMRRC Submission

040823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104280812-104286984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104285916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 357 (H357L)

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109957]

AlphaFold

D3Z451

Predicted Effect

probably damaging
Transcript: ENSMUST00000109957
AA Change: H357L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: H357L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	56	417	6.65e-153	SMART

Meta Mutation Damage Score

0.9369

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,097,368 (GRCm39)	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Or8c16	T	C	9: 38,130,131 (GRCm39)	M1T	probably null	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
St6gal2	A	G	17: 55,803,324 (GRCm39)	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,597,206 (GRCm39)	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	possibly damaging	Het
Zfp710	A	G	7: 79,731,134 (GRCm39)	R104G	probably damaging	Het

Other mutations in Serpina3j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Serpina3j	APN	12	104,284,750 (GRCm39)	missense	probably damaging	1.00
IGL01923:Serpina3j	APN	12	104,281,473 (GRCm39)	splice site	probably benign
IGL01965:Serpina3j	APN	12	104,281,063 (GRCm39)	missense	probably benign
IGL03135:Serpina3j	APN	12	104,281,166 (GRCm39)	missense	probably damaging	1.00
IGL03242:Serpina3j	APN	12	104,285,960 (GRCm39)	missense	possibly damaging	0.88
R0036:Serpina3j	UTSW	12	104,283,606 (GRCm39)	missense	probably benign	0.08
R0638:Serpina3j	UTSW	12	104,281,078 (GRCm39)	missense	possibly damaging	0.93
R0648:Serpina3j	UTSW	12	104,280,938 (GRCm39)	missense	probably benign	0.01
R1874:Serpina3j	UTSW	12	104,285,958 (GRCm39)	missense	probably benign	0.00
R2212:Serpina3j	UTSW	12	104,280,985 (GRCm39)	missense	probably damaging	0.99
R3013:Serpina3j	UTSW	12	104,285,966 (GRCm39)	missense	probably damaging	1.00
R3808:Serpina3j	UTSW	12	104,286,086 (GRCm39)	missense	probably benign	0.14
R4234:Serpina3j	UTSW	12	104,281,445 (GRCm39)	missense	probably benign	0.14
R4966:Serpina3j	UTSW	12	104,286,043 (GRCm39)	nonsense	probably null
R5373:Serpina3j	UTSW	12	104,280,986 (GRCm39)	missense	probably damaging	1.00
R5374:Serpina3j	UTSW	12	104,280,986 (GRCm39)	missense	probably damaging	1.00
R5771:Serpina3j	UTSW	12	104,281,185 (GRCm39)	missense	possibly damaging	0.71
R5993:Serpina3j	UTSW	12	104,280,946 (GRCm39)	missense	probably benign	0.26
R6151:Serpina3j	UTSW	12	104,283,649 (GRCm39)	missense	possibly damaging	0.69
R6246:Serpina3j	UTSW	12	104,283,706 (GRCm39)	missense	probably damaging	1.00
R6982:Serpina3j	UTSW	12	104,283,556 (GRCm39)	missense	probably benign	0.31
R7111:Serpina3j	UTSW	12	104,283,792 (GRCm39)	missense	probably damaging	1.00
R8183:Serpina3j	UTSW	12	104,284,754 (GRCm39)	nonsense	probably null
R8411:Serpina3j	UTSW	12	104,281,043 (GRCm39)	missense	probably benign	0.06
R8915:Serpina3j	UTSW	12	104,281,309 (GRCm39)	missense	probably benign	0.00
R9489:Serpina3j	UTSW	12	104,286,093 (GRCm39)	missense	probably damaging	0.97
R9605:Serpina3j	UTSW	12	104,286,093 (GRCm39)	missense	probably damaging	0.97
R9750:Serpina3j	UTSW	12	104,280,942 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCACACACTGAGCAGACC -3'
(R):5'- CAGGGTTGTTGATCTTGCCC -3'

Sequencing Primer
(F):5'- ATCTCACAGCCTGAGTAGAGTCTTG -3'
(R):5'- GTTGATCTTGCCCATAAAGTCG -3'

Posted On

2015-04-17