Mutagenetix > Incidental Mutation

Incidental Mutation 'R8974:Serpina3f'

683327

Institutional Source

Beutler Lab

Gene Symbol

Serpina3f

Ensembl Gene

ENSMUSG00000066363

Gene Name

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

Synonyms

2A1, alpha-1 antiproteinasin, antitrypsin

MMRRC Submission

068808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104180803-104187388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104183642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 168 (I168N)

Ref Sequence

ENSEMBL: ENSMUSP00000098641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]

AlphaFold

Q80X76

Predicted Effect

probably damaging
Transcript: ENSMUST00000101080
AA Change: I168N

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

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: I168N

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121337
AA Change: I168N

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

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: I168N

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167049
AA Change: I168N

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

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: I168N

Domain	Start	End	E-Value	Type
SERPIN	46	408	1.58e-186	SMART

Meta Mutation Damage Score

0.9721

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,143,716 (GRCm39)	V342A	probably damaging	Het
Acot4	T	C	12: 84,090,515 (GRCm39)	F404S	probably benign	Het
Alpk1	T	C	3: 127,473,580 (GRCm39)	T808A	probably benign	Het
Apba3	T	C	10: 81,109,032 (GRCm39)	V154A		Het
Arhgap27	A	T	11: 103,224,756 (GRCm39)	F476I	possibly damaging	Het
Asah2	A	T	19: 32,030,305 (GRCm39)	D122E	probably benign	Het
Asb10	T	C	5: 24,745,209 (GRCm39)	I47V	probably benign	Het
Catsperd	A	G	17: 56,959,525 (GRCm39)	T322A	possibly damaging	Het
Ccdc142	T	C	6: 83,078,963 (GRCm39)	V100A	probably benign	Het
Cdc5l	A	T	17: 45,715,621 (GRCm39)	C664S	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep89	A	G	7: 35,097,493 (GRCm39)	S40G	probably damaging	Het
Csmd2	A	G	4: 128,446,380 (GRCm39)	K3315R		Het
Cyp2d34	T	C	15: 82,500,537 (GRCm39)	E434G	probably damaging	Het
Degs1	A	G	1: 182,107,278 (GRCm39)	Y30H	probably benign	Het
Eps8l1	A	G	7: 4,474,817 (GRCm39)	D266G	probably damaging	Het
Fam168a	A	T	7: 100,484,611 (GRCm39)	T234S	probably benign	Het
Fzd3	G	T	14: 65,472,440 (GRCm39)	Q443K	possibly damaging	Het
Galnt7	A	G	8: 58,105,934 (GRCm39)	S27P		Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Hdac2	A	G	10: 36,862,340 (GRCm39)	Y68C	probably damaging	Het
Lmbr1l	A	G	15: 98,810,408 (GRCm39)	C68R	probably damaging	Het
Loxhd1	A	G	18: 77,518,899 (GRCm39)	T1902A	possibly damaging	Het
Lrrc4c	T	C	2: 97,459,992 (GRCm39)	M206T	probably damaging	Het
Lrrc75b	T	C	10: 75,389,848 (GRCm39)	T168A	probably benign	Het
Magi1	A	G	6: 93,674,223 (GRCm39)	F1003L	probably damaging	Het
Map1s	T	C	8: 71,366,994 (GRCm39)	L633P	probably damaging	Het
Mapk11	G	A	15: 89,028,014 (GRCm39)	T341I	probably benign	Het
Mycbp2	A	T	14: 103,361,857 (GRCm39)	V4441D	probably damaging	Het
Nin	T	C	12: 70,124,932 (GRCm39)	E130G		Het
Nod2	T	A	8: 89,390,433 (GRCm39)	Y247N	probably damaging	Het
Nudcd3	A	T	11: 6,143,163 (GRCm39)	V169E	probably benign	Het
Or2w2	A	T	13: 21,758,203 (GRCm39)	I141N	probably damaging	Het
Or51v15-ps1	T	C	7: 103,278,489 (GRCm39)	Y226C	unknown	Het
Or6c200-ps1	A	C	10: 128,869,905 (GRCm39)	C269G	probably damaging	Het
Pcdh9	A	C	14: 94,125,113 (GRCm39)	N352K	probably benign	Het
Pfpl	G	A	19: 12,405,839 (GRCm39)	G30D	probably damaging	Het
Pi15	A	G	1: 17,691,675 (GRCm39)	D159G	possibly damaging	Het
Plxna4	G	T	6: 32,216,447 (GRCm39)	R543S	possibly damaging	Het
Ppp1r12c	C	T	7: 4,486,698 (GRCm39)	E543K	probably damaging	Het
Prkdc	T	A	16: 15,617,726 (GRCm39)		probably null	Het
Proca1	T	C	11: 78,096,144 (GRCm39)	S172P	probably damaging	Het
Ralgapa1	C	A	12: 55,723,791 (GRCm39)	M1578I	probably benign	Het
Rnf103	C	A	6: 71,486,092 (GRCm39)	A241E	probably damaging	Het
Rorb	T	C	19: 18,955,070 (GRCm39)	D182G	probably benign	Het
Ryr3	T	C	2: 112,742,624 (GRCm39)	K485E	possibly damaging	Het
Sec24d	G	A	3: 123,099,498 (GRCm39)	D324N	probably damaging	Het
Sidt1	A	T	16: 44,101,980 (GRCm39)	*62R	probably null	Het
Slc22a27	A	C	19: 7,903,751 (GRCm39)	S129A	probably damaging	Het
Spata31e1	T	C	13: 49,939,556 (GRCm39)	D718G	probably benign	Het
Stab1	A	G	14: 30,882,779 (GRCm39)	V408A	probably benign	Het
Svil	G	T	18: 5,099,650 (GRCm39)	G1729W	probably damaging	Het
Tbx20	A	G	9: 24,681,082 (GRCm39)	S137P	probably damaging	Het
Tcstv2c	T	A	13: 120,616,486 (GRCm39)	D108E	probably benign	Het
Trem2	G	A	17: 48,655,599 (GRCm39)	R52Q	probably damaging	Het
Trim55	T	C	3: 19,699,603 (GRCm39)	S112P	probably damaging	Het
Vmn1r172	A	T	7: 23,359,840 (GRCm39)	M242L	probably benign	Het
Vmn2r91	G	A	17: 18,325,636 (GRCm39)	A85T	probably benign	Het
Zc3h3	T	C	15: 75,657,452 (GRCm39)	T580A	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	probably damaging	Het

Other mutations in Serpina3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Serpina3f	APN	12	104,183,599 (GRCm39)	missense	probably benign	0.44
IGL01375:Serpina3f	APN	12	104,186,735 (GRCm39)	missense	unknown
IGL01575:Serpina3f	APN	12	104,184,699 (GRCm39)	missense	probably damaging	1.00
IGL01712:Serpina3f	APN	12	104,184,657 (GRCm39)	missense	probably damaging	1.00
IGL02001:Serpina3f	APN	12	104,185,725 (GRCm39)	missense	probably damaging	1.00
IGL02882:Serpina3f	APN	12	104,183,263 (GRCm39)	missense	probably damaging	1.00
IGL03145:Serpina3f	APN	12	104,183,716 (GRCm39)	missense	probably benign	0.06
R0158:Serpina3f	UTSW	12	104,183,267 (GRCm39)	missense	probably damaging	1.00
R0739:Serpina3f	UTSW	12	104,184,612 (GRCm39)	missense	probably damaging	1.00
R1667:Serpina3f	UTSW	12	104,183,699 (GRCm39)	missense	probably damaging	1.00
R1800:Serpina3f	UTSW	12	104,183,665 (GRCm39)	missense	probably damaging	1.00
R2010:Serpina3f	UTSW	12	104,183,582 (GRCm39)	missense	probably damaging	1.00
R2356:Serpina3f	UTSW	12	104,183,626 (GRCm39)	nonsense	probably null
R3926:Serpina3f	UTSW	12	104,185,740 (GRCm39)	missense	possibly damaging	0.58
R3959:Serpina3f	UTSW	12	104,183,399 (GRCm39)	missense	probably damaging	1.00
R4619:Serpina3f	UTSW	12	104,183,549 (GRCm39)	missense	possibly damaging	0.93
R4765:Serpina3f	UTSW	12	104,185,690 (GRCm39)	missense	probably benign	0.03
R4977:Serpina3f	UTSW	12	104,183,314 (GRCm39)	missense	probably benign	0.00
R4994:Serpina3f	UTSW	12	104,186,615 (GRCm39)	missense	probably benign	0.04
R5432:Serpina3f	UTSW	12	104,186,577 (GRCm39)	missense	possibly damaging	0.79
R5733:Serpina3f	UTSW	12	104,183,182 (GRCm39)	missense	possibly damaging	0.63
R7670:Serpina3f	UTSW	12	104,183,525 (GRCm39)	missense	probably damaging	1.00
R7727:Serpina3f	UTSW	12	104,184,477 (GRCm39)	missense	probably benign	0.37
R7754:Serpina3f	UTSW	12	104,183,565 (GRCm39)	missense	possibly damaging	0.69
R8150:Serpina3f	UTSW	12	104,185,769 (GRCm39)	missense	probably damaging	1.00
R8798:Serpina3f	UTSW	12	104,183,702 (GRCm39)	missense	probably benign	0.07
R8801:Serpina3f	UTSW	12	104,185,737 (GRCm39)	missense	probably benign	0.16
R9223:Serpina3f	UTSW	12	104,183,444 (GRCm39)	missense	possibly damaging	0.95
R9239:Serpina3f	UTSW	12	104,184,710 (GRCm39)	missense	possibly damaging	0.91
R9623:Serpina3f	UTSW	12	104,183,743 (GRCm39)	missense	probably damaging	0.99
R9650:Serpina3f	UTSW	12	104,186,519 (GRCm39)	missense	possibly damaging	0.88
R9726:Serpina3f	UTSW	12	104,184,698 (GRCm39)	missense	probably damaging	1.00
X0028:Serpina3f	UTSW	12	104,183,530 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CACCAGGGCTTTAGGTACTTG -3'
(R):5'- TTCCTGCAAGGCTTTAAAACC -3'

Sequencing Primer
(F):5'- CAGGGCTTTAGGTACTTGCTAGACC -3'
(R):5'- AACCTACTTTAAAATGGGCAGC -3'

Posted On

2021-10-11