Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Serpina3f'

671510

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

068611-MU

Accession Numbers

Essential gene?

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

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104180803-104187388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104185737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 314 (H314L)

Ref Sequence

ENSEMBL: ENSMUSP00000098641 (fasta)

Gene Model

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

AlphaFold

Q80X76

Predicted Effect

probably benign
Transcript: ENSMUST00000101080
AA Change: H314L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: H314L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121337
AA Change: H314L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: H314L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167049
AA Change: H314L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: H314L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly 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
R8974:Serpina3f	UTSW	12	104,183,642 (GRCm39)	missense	probably damaging	1.00
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'- TCATGCACTGACGGGTAATTAATG -3'
(R):5'- ATTTGCCAATGCCACATACCG -3'

Sequencing Primer
(F):5'- ACAAAGTCAAGTTGTGTTGGC -3'
(R):5'- GACATACCCTTAACCATCCACATTC -3'

Posted On

2021-04-30