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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104214544-104221129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104217266 bp (GRCm38)

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
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	Het

Other mutations in Serpina3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Serpina3f	APN	12	104217340	missense	probably benign	0.44
IGL01375:Serpina3f	APN	12	104220476	missense	unknown
IGL01575:Serpina3f	APN	12	104218440	missense	probably damaging	1.00
IGL01712:Serpina3f	APN	12	104218398	missense	probably damaging	1.00
IGL02001:Serpina3f	APN	12	104219466	missense	probably damaging	1.00
IGL02882:Serpina3f	APN	12	104217004	missense	probably damaging	1.00
IGL03145:Serpina3f	APN	12	104217457	missense	probably benign	0.06
R0158:Serpina3f	UTSW	12	104217008	missense	probably damaging	1.00
R0739:Serpina3f	UTSW	12	104218353	missense	probably damaging	1.00
R1667:Serpina3f	UTSW	12	104217440	missense	probably damaging	1.00
R1800:Serpina3f	UTSW	12	104217406	missense	probably damaging	1.00
R2010:Serpina3f	UTSW	12	104217323	missense	probably damaging	1.00
R2356:Serpina3f	UTSW	12	104217367	nonsense	probably null
R3926:Serpina3f	UTSW	12	104219481	missense	possibly damaging	0.58
R3959:Serpina3f	UTSW	12	104217140	missense	probably damaging	1.00
R4619:Serpina3f	UTSW	12	104217290	missense	possibly damaging	0.93
R4765:Serpina3f	UTSW	12	104219431	missense	probably benign	0.03
R4977:Serpina3f	UTSW	12	104217055	missense	probably benign	0.00
R4994:Serpina3f	UTSW	12	104220356	missense	probably benign	0.04
R5432:Serpina3f	UTSW	12	104220318	missense	possibly damaging	0.79
R5733:Serpina3f	UTSW	12	104216923	missense	possibly damaging	0.63
R7727:Serpina3f	UTSW	12	104218218	missense	probably benign	0.37
R7754:Serpina3f	UTSW	12	104217306	missense	possibly damaging	0.69
R8150:Serpina3f	UTSW	12	104219510	missense	probably damaging	1.00
R8798:Serpina3f	UTSW	12	104217443	missense	probably benign	0.07
R8801:Serpina3f	UTSW	12	104219478	missense	probably benign	0.16
R8974:Serpina3f	UTSW	12	104217383	missense	probably damaging	1.00
R9223:Serpina3f	UTSW	12	104217185	missense	possibly damaging	0.95
R9239:Serpina3f	UTSW	12	104218451	missense	possibly damaging	0.91
R9623:Serpina3f	UTSW	12	104217484	missense	probably damaging	0.99
R9650:Serpina3f	UTSW	12	104220260	missense	possibly damaging	0.88
R9726:Serpina3f	UTSW	12	104218439	missense	probably damaging	1.00
X0028:Serpina3f	UTSW	12	104217271	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