Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Serpina3i'

502803

Institutional Source

Beutler Lab

Gene Symbol

Serpina3i

Ensembl Gene

ENSMUSG00000079014

Gene Name

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

Synonyms

alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930

MMRRC Submission

044334-MU

Accession Numbers

Essential gene?

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

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104229381-104235631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104232762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 222 (D222E)

Ref Sequence

ENSEMBL: ENSMUSP00000105584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109958]

AlphaFold

D3Z450

Predicted Effect

probably benign
Transcript: ENSMUST00000109958
AA Change: D222E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: D222E

Domain	Start	End	E-Value	Type
SERPIN	46	407	8.45e-187	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109960

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	probably damaging	Het

Other mutations in Serpina3i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00658:Serpina3i	APN	12	104,231,429 (GRCm39)	missense	possibly damaging	0.47
IGL01311:Serpina3i	APN	12	104,233,946 (GRCm39)	missense	probably damaging	1.00
IGL02661:Serpina3i	APN	12	104,231,515 (GRCm39)	nonsense	probably null
IGL02819:Serpina3i	APN	12	104,234,761 (GRCm39)	missense	probably damaging	1.00
FR4340:Serpina3i	UTSW	12	104,231,423 (GRCm39)	small insertion	probably benign
PIT4431001:Serpina3i	UTSW	12	104,231,432 (GRCm39)	missense	probably benign	0.03
R0091:Serpina3i	UTSW	12	104,231,423 (GRCm39)	missense	probably damaging	0.97
R0678:Serpina3i	UTSW	12	104,232,978 (GRCm39)	critical splice donor site	probably null
R1624:Serpina3i	UTSW	12	104,234,897 (GRCm39)	makesense	probably null
R4604:Serpina3i	UTSW	12	104,234,036 (GRCm39)	missense	possibly damaging	0.91
R4814:Serpina3i	UTSW	12	104,231,470 (GRCm39)	missense	probably benign	0.00
R5213:Serpina3i	UTSW	12	104,231,914 (GRCm39)	missense	probably benign
R5464:Serpina3i	UTSW	12	104,234,751 (GRCm39)	missense	possibly damaging	0.62
R5504:Serpina3i	UTSW	12	104,232,862 (GRCm39)	missense	probably damaging	1.00
R5723:Serpina3i	UTSW	12	104,231,759 (GRCm39)	missense	probably benign	0.09
R5828:Serpina3i	UTSW	12	104,231,474 (GRCm39)	missense	probably benign	0.35
R5922:Serpina3i	UTSW	12	104,232,766 (GRCm39)	missense	probably benign	0.15
R6235:Serpina3i	UTSW	12	104,232,791 (GRCm39)	missense	probably damaging	1.00
R6469:Serpina3i	UTSW	12	104,232,776 (GRCm39)	missense	probably damaging	1.00
R6631:Serpina3i	UTSW	12	104,232,725 (GRCm39)	missense	probably damaging	0.99
R7993:Serpina3i	UTSW	12	104,231,407 (GRCm39)	missense	possibly damaging	0.80
R8437:Serpina3i	UTSW	12	104,231,963 (GRCm39)	missense	probably damaging	1.00
R8680:Serpina3i	UTSW	12	104,231,387 (GRCm39)	missense	possibly damaging	0.61
R9157:Serpina3i	UTSW	12	104,231,672 (GRCm39)	missense	probably damaging	1.00
R9249:Serpina3i	UTSW	12	104,231,728 (GRCm39)	nonsense	probably null
R9303:Serpina3i	UTSW	12	104,234,881 (GRCm39)	missense	probably damaging	0.98
R9305:Serpina3i	UTSW	12	104,234,881 (GRCm39)	missense	probably damaging	0.98
R9313:Serpina3i	UTSW	12	104,231,672 (GRCm39)	missense	probably damaging	1.00
R9424:Serpina3i	UTSW	12	104,234,730 (GRCm39)	missense	probably benign
R9572:Serpina3i	UTSW	12	104,234,743 (GRCm39)	missense	probably damaging	1.00
R9576:Serpina3i	UTSW	12	104,234,730 (GRCm39)	missense	probably benign
Z1176:Serpina3i	UTSW	12	104,233,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGGACACTGTGCTGTTG -3'
(R):5'- CACCTGGGTTTCAGAGAGTTC -3'

Sequencing Primer
(F):5'- GCTGTTGAAGGTATATTGACAGC -3'
(R):5'- CTCAGGGTCTCTGGATGCAAG -3'

Posted On

2018-02-27