Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Serpina1f'

672375

Institutional Source

Beutler Lab

Gene Symbol

Serpina1f

Ensembl Gene

ENSMUSG00000021081

Gene Name

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

Synonyms

0610012A11Rik, epserin, Serpina2

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103654303-103661788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103660240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000021490 (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: V14A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: V14A

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: V14A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: V14A

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: V14A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: V14A

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

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,452 (GRCm39)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,990,169 (GRCm39)	V783A	probably damaging	Het
Akap8	T	C	17: 32,525,504 (GRCm39)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,313,606 (GRCm39)	T44M	probably damaging	Het
Arap1	T	C	7: 101,053,585 (GRCm39)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,300,651 (GRCm39)	S743A	probably benign	Het
AW551984	G	T	9: 39,511,307 (GRCm39)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,164,587 (GRCm39)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,743,002 (GRCm39)	V288L	probably benign	Het
Carmil2	T	C	8: 106,412,947 (GRCm39)		probably null	Het
Catspere2	G	A	1: 177,905,048 (GRCm39)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,542,737 (GRCm39)	R379Q	probably benign	Het
Cd200l1	T	C	16: 45,264,199 (GRCm39)	T120A	probably benign	Het
Cdh16	A	G	8: 105,341,136 (GRCm39)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,796,076 (GRCm39)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 41,244,027 (GRCm39)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,803,862 (GRCm39)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,109,121 (GRCm39)	C394F	probably damaging	Het
Chst9	T	C	18: 15,850,983 (GRCm39)	I28V	probably benign	Het
Clasp2	C	A	9: 113,728,649 (GRCm39)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,158,269 (GRCm39)	M45K	probably benign	Het
Cmya5	T	A	13: 93,200,048 (GRCm39)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 180,989,777 (GRCm39)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,281,506 (GRCm39)	M529K	probably damaging	Het
Crppa	A	T	12: 36,440,481 (GRCm39)	N130Y	probably damaging	Het
Ctsr	T	A	13: 61,309,639 (GRCm39)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 95,945,153 (GRCm39)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,613,265 (GRCm39)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,926,764 (GRCm39)	I226F	probably benign	Het
Efcab3	A	T	11: 104,805,721 (GRCm39)	N3076I	unknown	Het
Ehd2	A	G	7: 15,691,603 (GRCm39)	V243A	probably benign	Het
Etnk2	T	A	1: 133,306,232 (GRCm39)	Y353N	probably benign	Het
Fgg	G	T	3: 82,920,322 (GRCm39)	G367V	probably damaging	Het
Gm9772	T	C	17: 22,225,310 (GRCm39)	*61Q	probably null	Het
Grk5	T	G	19: 61,078,432 (GRCm39)	D496E	possibly damaging	Het
Hc	T	C	2: 34,909,535 (GRCm39)	N915S	probably benign	Het
Iah1	G	T	12: 21,367,388 (GRCm39)	Q31H	probably benign	Het
Insr	T	C	8: 3,219,714 (GRCm39)	D936G	probably benign	Het
Ints6	A	C	14: 62,939,902 (GRCm39)	V596G	probably benign	Het
Kcnj16	A	G	11: 110,915,677 (GRCm39)	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,706,771 (GRCm39)	I928F	probably damaging	Het
Lrrc41	C	T	4: 115,932,488 (GRCm39)		probably benign	Het
Lrrc8e	G	A	8: 4,285,070 (GRCm39)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,458,501 (GRCm39)	E336G	probably benign	Het
Maml2	C	A	9: 13,532,918 (GRCm39)	Q711K		Het
Map3k14	T	C	11: 103,118,498 (GRCm39)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,303,535 (GRCm39)	K101*	probably null	Het
Mettl22	T	A	16: 8,303,792 (GRCm39)	V286E	probably damaging	Het
Mon2	A	T	10: 122,845,516 (GRCm39)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,587,851 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,170,344 (GRCm39)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,565,758 (GRCm39)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,567,758 (GRCm39)	I241F	probably benign	Het
Naalad2	A	T	9: 18,297,230 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,552,853 (GRCm39)	T113A	probably benign	Het
Nrap	T	A	19: 56,352,843 (GRCm39)		probably benign	Het
Or10b1	G	A	10: 78,356,284 (GRCm39)	V281M	possibly damaging	Het
Or2z2	T	C	11: 58,345,936 (GRCm39)	T280A	possibly damaging	Het
Or56b2	T	A	7: 104,337,387 (GRCm39)	I55N	probably damaging	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or5w1	T	C	2: 87,486,591 (GRCm39)	I225V	possibly damaging	Het
Or6z3	T	C	7: 6,463,763 (GRCm39)	L85P	probably damaging	Het
Osbpl3	T	C	6: 50,328,852 (GRCm39)	D117G	probably damaging	Het
Parp9	C	T	16: 35,773,981 (GRCm39)	R318*	probably null	Het
Pcdhb18	A	G	18: 37,623,374 (GRCm39)	I235V	probably benign	Het
Pex16	T	G	2: 92,209,366 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,248,034 (GRCm39)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,069,628 (GRCm39)	G271V	probably damaging	Het
Safb	A	G	17: 56,910,579 (GRCm39)	E659G	unknown	Het
Scn9a	T	C	2: 66,332,010 (GRCm39)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,617,596 (GRCm39)	D27G	possibly damaging	Het
Serpinb9b	C	A	13: 33,213,452 (GRCm39)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,206,182 (GRCm39)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,035,530 (GRCm39)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,367,229 (GRCm39)	N135S	possibly damaging	Het
Spg11	T	G	2: 121,901,425 (GRCm39)	D1505A	probably damaging	Het
Spmip8	A	T	8: 96,047,883 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,869,279 (GRCm39)	N34S	probably benign	Het
Tcerg1l	C	A	7: 137,811,526 (GRCm39)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,518,763 (GRCm39)	K311R	probably benign	Het
Trbv16	T	G	6: 41,128,972 (GRCm39)	F52C	probably damaging	Het
Ttn	T	A	2: 76,726,016 (GRCm39)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm39)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,219,082 (GRCm39)	I192T	probably benign	Het
Vmn2r67	C	T	7: 84,786,346 (GRCm39)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,784,121 (GRCm39)	H452N	possibly damaging	Het

Other mutations in Serpina1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Serpina1f	APN	12	103,658,128 (GRCm39)	missense	probably benign	0.02
IGL00757:Serpina1f	APN	12	103,659,721 (GRCm39)	missense	probably damaging	1.00
IGL01123:Serpina1f	APN	12	103,660,265 (GRCm39)	missense	possibly damaging	0.47
IGL01695:Serpina1f	APN	12	103,659,943 (GRCm39)	missense	probably damaging	1.00
IGL01791:Serpina1f	APN	12	103,659,761 (GRCm39)	missense	probably damaging	1.00
IGL01868:Serpina1f	APN	12	103,659,704 (GRCm39)	missense	probably benign	0.24
IGL02135:Serpina1f	APN	12	103,659,974 (GRCm39)	missense	possibly damaging	0.90
IGL03025:Serpina1f	APN	12	103,659,805 (GRCm39)	missense	probably damaging	0.99
IGL03331:Serpina1f	APN	12	103,657,150 (GRCm39)	missense	probably benign	0.04
R0084:Serpina1f	UTSW	12	103,659,847 (GRCm39)	missense	possibly damaging	0.82
R0492:Serpina1f	UTSW	12	103,659,826 (GRCm39)	missense	possibly damaging	0.72
R0893:Serpina1f	UTSW	12	103,660,094 (GRCm39)	missense	probably damaging	0.97
R2202:Serpina1f	UTSW	12	103,659,655 (GRCm39)	missense	possibly damaging	0.75
R3974:Serpina1f	UTSW	12	103,659,830 (GRCm39)	nonsense	probably null
R4179:Serpina1f	UTSW	12	103,658,179 (GRCm39)	missense	probably benign	0.08
R4736:Serpina1f	UTSW	12	103,659,805 (GRCm39)	missense	probably damaging	0.97
R4948:Serpina1f	UTSW	12	103,656,010 (GRCm39)	missense	probably damaging	1.00
R5092:Serpina1f	UTSW	12	103,659,809 (GRCm39)	missense	probably damaging	1.00
R5416:Serpina1f	UTSW	12	103,660,203 (GRCm39)	missense	possibly damaging	0.68
R5887:Serpina1f	UTSW	12	103,659,890 (GRCm39)	nonsense	probably null
R5887:Serpina1f	UTSW	12	103,656,046 (GRCm39)	missense	possibly damaging	0.85
R6413:Serpina1f	UTSW	12	103,659,953 (GRCm39)	missense	probably damaging	1.00
R6566:Serpina1f	UTSW	12	103,659,794 (GRCm39)	missense	probably damaging	1.00
R7371:Serpina1f	UTSW	12	103,656,086 (GRCm39)	missense	probably damaging	0.96
R7419:Serpina1f	UTSW	12	103,656,101 (GRCm39)	missense	probably damaging	1.00
R7527:Serpina1f	UTSW	12	103,658,167 (GRCm39)	missense	probably benign	0.16
R7943:Serpina1f	UTSW	12	103,659,949 (GRCm39)	missense	probably damaging	0.98
R8249:Serpina1f	UTSW	12	103,660,027 (GRCm39)	missense	probably damaging	1.00
R8270:Serpina1f	UTSW	12	103,659,757 (GRCm39)	missense	probably damaging	1.00
R8962:Serpina1f	UTSW	12	103,656,131 (GRCm39)	missense	probably benign	0.01
R9657:Serpina1f	UTSW	12	103,656,050 (GRCm39)	nonsense	probably null
Z1176:Serpina1f	UTSW	12	103,658,125 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CAGCAATGACTCTAATCGGGG -3'
(R):5'- TGCCCTGAGAGGTATCACTG -3'

Sequencing Primer
(F):5'- AGATGGTAAGAGCCACCT -3'
(R):5'- CACTGGGTCTTTCAATAATGAAGC -3'

Posted On

2021-04-30