Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Serpina1f'

682416

Institutional Source

Beutler Lab

Gene Symbol

Serpina1f

Ensembl Gene

ENSMUSG00000021081

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1F

Synonyms

epserin, 0610012A11Rik

MMRRC Submission

068796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103688044-103695529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103689872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 366 (S366G)

Ref Sequence

ENSEMBL: ENSMUSP00000113736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021490] [ENSMUST00000117053] [ENSMUST00000118101]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021490
AA Change: S366G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: S366G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SERPIN	53	409	7.69e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117053
AA Change: S311G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: S311G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SERPIN	53	354	1.23e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118101
AA Change: S366G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: S366G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
SERPIN	53	409	7.69e-85	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875 (GRCm38)	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575 (GRCm38)	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302 (GRCm38)	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808 (GRCm38)	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329 (GRCm38)	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309 (GRCm38)	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391 (GRCm38)	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802 (GRCm38)	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336 (GRCm38)		probably null	Het
Ankrd26	T	C	6: 118,535,143 (GRCm38)	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204 (GRCm38)	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062 (GRCm38)	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304 (GRCm38)	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547 (GRCm38)	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619 (GRCm38)	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272 (GRCm38)	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077 (GRCm38)	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495 (GRCm38)		probably null	Het
Dnah11	C	T	12: 117,954,895 (GRCm38)	D1530N	probably damaging	Het
Dnah11	T	A	12: 117,952,538 (GRCm38)	D3520V	probably damaging	Het
Dock5	T	C	14: 67,757,191 (GRCm38)	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479 (GRCm38)	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259 (GRCm38)	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615 (GRCm38)	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697 (GRCm38)	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257 (GRCm38)	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379 (GRCm38)	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176 (GRCm38)	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253 (GRCm38)	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747 (GRCm38)	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692 (GRCm38)	E110G		Het
Gm21976	G	T	13: 98,287,313 (GRCm38)		silent	Het
Golgb1	T	C	16: 36,913,616 (GRCm38)	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410 (GRCm38)	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728 (GRCm38)	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584 (GRCm38)	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234 (GRCm38)	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602 (GRCm38)	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836 (GRCm38)	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791 (GRCm38)	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446 (GRCm38)	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989 (GRCm38)	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437 (GRCm38)	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480 (GRCm38)	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958 (GRCm38)	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340 (GRCm38)	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039 (GRCm38)	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109 (GRCm38)	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359 (GRCm38)	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914 (GRCm38)	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817 (GRCm38)	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826 (GRCm38)	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895 (GRCm38)	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248 (GRCm38)	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033 (GRCm38)	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430 (GRCm38)		probably null	Het
Rtn4ip1	A	T	10: 43,946,419 (GRCm38)		probably null	Het
S1pr1	T	C	3: 115,711,920 (GRCm38)	R342G		Het
Sestd1	A	T	2: 77,212,364 (GRCm38)	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716 (GRCm38)	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469 (GRCm38)	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803 (GRCm38)	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309 (GRCm38)	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400 (GRCm38)	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778 (GRCm38)	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169 (GRCm38)	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445 (GRCm38)		probably benign	Het
Taar7b	T	G	10: 24,000,461 (GRCm38)	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043 (GRCm38)	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336 (GRCm38)	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005 (GRCm38)	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604 (GRCm38)	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707 (GRCm38)	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833 (GRCm38)	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602 (GRCm38)	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891 (GRCm38)	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143 (GRCm38)	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155 (GRCm38)	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206 (GRCm38)	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240 (GRCm38)	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003 (GRCm38)	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807 (GRCm38)	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932 (GRCm38)	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361 (GRCm38)	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648 (GRCm38)	N139K	probably benign	Het

Other mutations in Serpina1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Serpina1f	APN	12	103,691,869 (GRCm38)	missense	probably benign	0.02
IGL00757:Serpina1f	APN	12	103,693,462 (GRCm38)	missense	probably damaging	1.00
IGL01123:Serpina1f	APN	12	103,694,006 (GRCm38)	missense	possibly damaging	0.47
IGL01695:Serpina1f	APN	12	103,693,684 (GRCm38)	missense	probably damaging	1.00
IGL01791:Serpina1f	APN	12	103,693,502 (GRCm38)	missense	probably damaging	1.00
IGL01868:Serpina1f	APN	12	103,693,445 (GRCm38)	missense	probably benign	0.24
IGL02135:Serpina1f	APN	12	103,693,715 (GRCm38)	missense	possibly damaging	0.90
IGL03025:Serpina1f	APN	12	103,693,546 (GRCm38)	missense	probably damaging	0.99
IGL03331:Serpina1f	APN	12	103,690,891 (GRCm38)	missense	probably benign	0.04
R0084:Serpina1f	UTSW	12	103,693,588 (GRCm38)	missense	possibly damaging	0.82
R0492:Serpina1f	UTSW	12	103,693,567 (GRCm38)	missense	possibly damaging	0.72
R0893:Serpina1f	UTSW	12	103,693,835 (GRCm38)	missense	probably damaging	0.97
R2202:Serpina1f	UTSW	12	103,693,396 (GRCm38)	missense	possibly damaging	0.75
R3974:Serpina1f	UTSW	12	103,693,571 (GRCm38)	nonsense	probably null
R4179:Serpina1f	UTSW	12	103,691,920 (GRCm38)	missense	probably benign	0.08
R4736:Serpina1f	UTSW	12	103,693,546 (GRCm38)	missense	probably damaging	0.97
R4948:Serpina1f	UTSW	12	103,689,751 (GRCm38)	missense	probably damaging	1.00
R5092:Serpina1f	UTSW	12	103,693,550 (GRCm38)	missense	probably damaging	1.00
R5416:Serpina1f	UTSW	12	103,693,944 (GRCm38)	missense	possibly damaging	0.68
R5887:Serpina1f	UTSW	12	103,693,631 (GRCm38)	nonsense	probably null
R5887:Serpina1f	UTSW	12	103,689,787 (GRCm38)	missense	possibly damaging	0.85
R6413:Serpina1f	UTSW	12	103,693,694 (GRCm38)	missense	probably damaging	1.00
R6566:Serpina1f	UTSW	12	103,693,535 (GRCm38)	missense	probably damaging	1.00
R7371:Serpina1f	UTSW	12	103,689,827 (GRCm38)	missense	probably damaging	0.96
R7419:Serpina1f	UTSW	12	103,689,842 (GRCm38)	missense	probably damaging	1.00
R7527:Serpina1f	UTSW	12	103,691,908 (GRCm38)	missense	probably benign	0.16
R7943:Serpina1f	UTSW	12	103,693,690 (GRCm38)	missense	probably damaging	0.98
R8249:Serpina1f	UTSW	12	103,693,768 (GRCm38)	missense	probably damaging	1.00
R8270:Serpina1f	UTSW	12	103,693,498 (GRCm38)	missense	probably damaging	1.00
R8810:Serpina1f	UTSW	12	103,693,981 (GRCm38)	missense	probably benign	0.00
R9657:Serpina1f	UTSW	12	103,689,791 (GRCm38)	nonsense	probably null
Z1176:Serpina1f	UTSW	12	103,691,866 (GRCm38)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGTTTGCACTCAGGCATGGG -3'
(R):5'- CTGGGCAGTACCATAAAGGATG -3'

Sequencing Primer
(F):5'- GTGAAACGGCCCCATGTTTAATG -3'
(R):5'- TGGACATAAGCCATTGGAGGGTC -3'

Posted On

2021-08-31