Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Serpina3j'

678891

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

068703-MU

Accession Numbers

Essential gene?

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

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104280812-104286984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104281309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 161 (T161A)

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

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

AlphaFold

D3Z451

Predicted Effect

probably benign
Transcript: ENSMUST00000109957
AA Change: T161A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: T161A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Asxl3	T	A	18: 22,657,763 (GRCm39)	D1924E	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Ctbs	T	C	3: 146,169,724 (GRCm39)	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tmem131	A	T	1: 36,868,658 (GRCm39)	I389N	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Trip13	T	C	13: 74,081,085 (GRCm39)	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp574	T	C	7: 24,780,769 (GRCm39)	L597P	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	probably benign	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
R3928:Serpina3j	UTSW	12	104,285,916 (GRCm39)	missense	probably damaging	1.00
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
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'- CTCAAGTTCAATCTGACAGAGACC -3'
(R):5'- TGTAAGGACACAGGTTCTCGG -3'

Sequencing Primer
(F):5'- GTTCAATCTGACAGAGACCCCTGAG -3'
(R):5'- ACAGGTTCTCGGGCAGCATC -3'

Posted On

2021-08-02