Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Serpina3f'

592113

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

045742-MU

Accession Numbers

Essential gene?

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

Stock #

R7670 (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 104183525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 129 (L129Q)

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: L129Q

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

SMART Domains

Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: L129Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121337
AA Change: L129Q

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

SMART Domains

Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: L129Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167049
AA Change: L129Q

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

SMART Domains

Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: L129Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,023,190 (GRCm39)	H100L	probably benign	Het
Adgrf2	T	C	17: 43,022,263 (GRCm39)	N187S	probably damaging	Het
Adipoq	T	A	16: 22,976,332 (GRCm39)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,373,845 (GRCm39)	S209T	probably benign	Het
Arrdc3	C	T	13: 81,037,212 (GRCm39)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,579,865 (GRCm39)	N212D	probably benign	Het
Ccr9	A	T	9: 123,608,371 (GRCm39)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,646 (GRCm39)	V270D	probably damaging	Het
Clic4	A	G	4: 134,944,516 (GRCm39)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,897,577 (GRCm39)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,538,925 (GRCm39)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,408,925 (GRCm39)	N103D	probably benign	Het
Ddx60	T	C	8: 62,428,826 (GRCm39)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,378 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,148,462 (GRCm39)	D279E	probably benign	Het
Eif1ad10	T	C	12: 88,216,524 (GRCm39)	N116S	probably benign	Het
Fam117a	A	G	11: 95,269,660 (GRCm39)	N308S	probably benign	Het
Fasn	A	G	11: 120,704,245 (GRCm39)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,678,802 (GRCm39)	S625P	probably benign	Het
Gemin5	A	G	11: 58,038,754 (GRCm39)	V585A	probably benign	Het
Gm5145	C	A	17: 20,790,646 (GRCm39)	P8Q	probably benign	Het
Herc1	C	A	9: 66,323,629 (GRCm39)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,637,107 (GRCm39)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,687,050 (GRCm39)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,799,258 (GRCm39)	N154D	not run	Het
Lcp1	A	T	14: 75,437,871 (GRCm39)	I94F	probably benign	Het
Lin7a	A	T	10: 107,218,552 (GRCm39)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,846,351 (GRCm39)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,834,517 (GRCm39)	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015 (GRCm39)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nme8	T	C	13: 19,842,999 (GRCm39)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,349,414 (GRCm39)		probably null	Het
Nuggc	A	G	14: 65,850,975 (GRCm39)	I298V	probably damaging	Het
Nup155	A	C	15: 8,183,180 (GRCm39)	K1247Q	probably damaging	Het
Or1a1	A	G	11: 74,087,033 (GRCm39)	K235E	probably damaging	Het
Or5c1	A	T	2: 37,221,771 (GRCm39)	E4V	probably benign	Het
Otud4	T	A	8: 80,382,493 (GRCm39)		probably null	Het
Pacc1	A	G	1: 191,073,065 (GRCm39)	N162S	probably benign	Het
Pcdhb18	T	C	18: 37,624,749 (GRCm39)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Prkca	A	T	11: 107,905,170 (GRCm39)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,582,683 (GRCm39)	I201V	probably benign	Het
Reep6	T	C	10: 80,169,627 (GRCm39)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,126 (GRCm39)		probably benign	Het
Rev3l	C	T	10: 39,712,718 (GRCm39)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,831,818 (GRCm39)	N230S	probably benign	Het
Rreb1	T	C	13: 38,115,548 (GRCm39)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,785,029 (GRCm39)	N313K	probably damaging	Het
Slc9a2	T	A	1: 40,758,157 (GRCm39)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,619,925 (GRCm39)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm39)	G1373D	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tns1	C	A	1: 73,991,636 (GRCm39)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,373,324 (GRCm39)	C768*	probably null	Het
Ubl7	A	T	9: 57,837,052 (GRCm39)	E354D	probably benign	Het
Ush2a	T	C	1: 188,516,905 (GRCm39)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,340,917 (GRCm39)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,753,077 (GRCm39)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,594,221 (GRCm39)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,105,903 (GRCm39)		probably benign	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
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
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'- CCATTCAGCATCTGCACTGC -3'
(R):5'- GATGTAATTCACCAGCACCATC -3'

Sequencing Primer
(F):5'- AGCATCTGCACTGCCTTGG -3'
(R):5'- GTCCTTTTATCCAGGTCTGAAATGAG -3'

Posted On

2019-11-12