Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Serpina3j'

489287

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

044298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104314553-104320725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104317390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 249 (A249E)

Ref Sequence

ENSEMBL: ENSMUSP00000105583 (fasta)

Gene Model

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

AlphaFold

D3Z451

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109957
AA Change: A249E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: A249E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,681 (GRCm38)	C248S	probably damaging	Het
3110009E18Rik	A	G	1: 120,171,486 (GRCm38)		probably null	Het
4930550C14Rik	G	T	9: 53,414,383 (GRCm38)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm38)	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687 (GRCm38)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792 (GRCm38)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252 (GRCm38)	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412 (GRCm38)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942 (GRCm38)	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976 (GRCm38)	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467 (GRCm38)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961 (GRCm38)	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595 (GRCm38)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105 (GRCm38)	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054 (GRCm38)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753 (GRCm38)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660 (GRCm38)	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982 (GRCm38)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353 (GRCm38)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281 (GRCm38)	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418 (GRCm38)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480 (GRCm38)		probably null	Het
Eprs	G	T	1: 185,407,754 (GRCm38)		probably null	Het
Etl4	T	A	2: 20,713,360 (GRCm38)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745 (GRCm38)	S89*	probably null	Het
F5	G	A	1: 164,190,187 (GRCm38)	C611Y	probably damaging	Het
F5	A	T	1: 164,181,635 (GRCm38)	I325F	probably damaging	Het
Fam133b	A	T	5: 3,559,133 (GRCm38)	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277 (GRCm38)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630 (GRCm38)	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396 (GRCm38)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930 (GRCm38)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271 (GRCm38)	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088 (GRCm38)		probably benign	Het
Gdpd3	A	G	7: 126,775,502 (GRCm38)	S290G	probably benign	Het
Gm6768	T	G	12: 119,261,106 (GRCm38)		noncoding transcript	Het
Gmip	T	A	8: 69,817,085 (GRCm38)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025 (GRCm38)	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556 (GRCm38)	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757 (GRCm38)	L2Q	probably damaging	Het
Hrasls5	C	T	19: 7,619,291 (GRCm38)	P148S	probably damaging	Het
Hspbap1	T	C	16: 35,817,222 (GRCm38)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289 (GRCm38)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668 (GRCm38)	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909 (GRCm38)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853 (GRCm38)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854 (GRCm38)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213 (GRCm38)	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489 (GRCm38)	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116 (GRCm38)	F3L	unknown	Het
Madd	A	C	2: 91,165,457 (GRCm38)	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823 (GRCm38)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm38)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020 (GRCm38)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025 (GRCm38)		probably null	Het
Mpp3	C	A	11: 102,008,566 (GRCm38)	R376S	probably benign	Het
Nup160	T	A	2: 90,690,105 (GRCm38)	Y293*	probably null	Het
Nupl1	A	T	14: 60,244,616 (GRCm38)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191 (GRCm38)	L255V	probably benign	Het
Olfr1423	T	C	19: 12,036,736 (GRCm38)	E2G	probably benign	Het
Olfr167	A	T	16: 19,515,531 (GRCm38)	L35Q	probably damaging	Het
Olfr390	T	A	11: 73,787,695 (GRCm38)	Y252*	probably null	Het
Olfr479	A	G	7: 108,055,899 (GRCm38)	I306V	probably benign	Het
Padi3	A	T	4: 140,796,394 (GRCm38)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618 (GRCm38)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551 (GRCm38)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606 (GRCm38)	H2089R	probably benign	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279 (GRCm38)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm38)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827 (GRCm38)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068 (GRCm38)	I4F	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376 (GRCm38)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563 (GRCm38)	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321 (GRCm38)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207 (GRCm38)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047 (GRCm38)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 127,207,996 (GRCm38)	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783 (GRCm38)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573 (GRCm38)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851 (GRCm38)	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550 (GRCm38)	S433N	probably benign	Het
Traip	G	T	9: 107,970,619 (GRCm38)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm38)	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160 (GRCm38)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm38)	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960 (GRCm38)		probably null	Het
Ugdh	A	T	5: 65,417,581 (GRCm38)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm38)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914 (GRCm38)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435 (GRCm38)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670 (GRCm38)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959 (GRCm38)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465 (GRCm38)		probably null	Het
Vwf	A	G	6: 125,657,065 (GRCm38)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710 (GRCm38)		probably null	Het
Zfp458	T	A	13: 67,257,598 (GRCm38)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910 (GRCm38)	V1051A	probably benign	Het

Other mutations in Serpina3j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Serpina3j	APN	12	104,318,491 (GRCm38)	missense	probably damaging	1.00
IGL01923:Serpina3j	APN	12	104,315,214 (GRCm38)	splice site	probably benign
IGL01965:Serpina3j	APN	12	104,314,804 (GRCm38)	missense	probably benign
IGL03135:Serpina3j	APN	12	104,314,907 (GRCm38)	missense	probably damaging	1.00
IGL03242:Serpina3j	APN	12	104,319,701 (GRCm38)	missense	possibly damaging	0.88
R0036:Serpina3j	UTSW	12	104,317,347 (GRCm38)	missense	probably benign	0.08
R0638:Serpina3j	UTSW	12	104,314,819 (GRCm38)	missense	possibly damaging	0.93
R0648:Serpina3j	UTSW	12	104,314,679 (GRCm38)	missense	probably benign	0.01
R1874:Serpina3j	UTSW	12	104,319,699 (GRCm38)	missense	probably benign	0.00
R2212:Serpina3j	UTSW	12	104,314,726 (GRCm38)	missense	probably damaging	0.99
R3013:Serpina3j	UTSW	12	104,319,707 (GRCm38)	missense	probably damaging	1.00
R3808:Serpina3j	UTSW	12	104,319,827 (GRCm38)	missense	probably benign	0.14
R3928:Serpina3j	UTSW	12	104,319,657 (GRCm38)	missense	probably damaging	1.00
R4234:Serpina3j	UTSW	12	104,315,186 (GRCm38)	missense	probably benign	0.14
R4966:Serpina3j	UTSW	12	104,319,784 (GRCm38)	nonsense	probably null
R5373:Serpina3j	UTSW	12	104,314,727 (GRCm38)	missense	probably damaging	1.00
R5374:Serpina3j	UTSW	12	104,314,727 (GRCm38)	missense	probably damaging	1.00
R5771:Serpina3j	UTSW	12	104,314,926 (GRCm38)	missense	possibly damaging	0.71
R5993:Serpina3j	UTSW	12	104,314,687 (GRCm38)	missense	probably benign	0.26
R6246:Serpina3j	UTSW	12	104,317,447 (GRCm38)	missense	probably damaging	1.00
R6982:Serpina3j	UTSW	12	104,317,297 (GRCm38)	missense	probably benign	0.31
R7111:Serpina3j	UTSW	12	104,317,533 (GRCm38)	missense	probably damaging	1.00
R8183:Serpina3j	UTSW	12	104,318,495 (GRCm38)	nonsense	probably null
R8411:Serpina3j	UTSW	12	104,314,784 (GRCm38)	missense	probably benign	0.06
R8915:Serpina3j	UTSW	12	104,315,050 (GRCm38)	missense	probably benign	0.00
R9489:Serpina3j	UTSW	12	104,319,834 (GRCm38)	missense	probably damaging	0.97
R9605:Serpina3j	UTSW	12	104,319,834 (GRCm38)	missense	probably damaging	0.97
R9750:Serpina3j	UTSW	12	104,314,683 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGTCACAACTCAGAAGC -3'
(R):5'- TACAGGGATCAGTGACAGTCTG -3'

Sequencing Primer
(F):5'- TCAGAAGCTGAGCAGAGATG -3'
(R):5'- TCAGTGACAGTCTGAGACCTG -3'

Posted On

2017-10-10