Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Serpina1f'

319648

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

041015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103688044-103695529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103691920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 242 (M242K)

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: M242K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: M242K

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

SMART Domains

Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081

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: M242K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: M242K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 43,651,091 (GRCm38)	M506V	probably benign	Het
Ano1	A	T	7: 144,650,505 (GRCm38)	M290K	probably damaging	Het
Arrdc2	A	T	8: 70,837,177 (GRCm38)	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,592,486 (GRCm38)	T77N	probably benign	Het
Cmtr2	C	G	8: 110,221,037 (GRCm38)		probably null	Het
Cnot2	A	T	10: 116,498,143 (GRCm38)	V374E	possibly damaging	Het
Crnn	T	C	3: 93,146,813 (GRCm38)	M1T	probably null	Het
Ctsb	A	G	14: 63,133,452 (GRCm38)	N38D	probably benign	Het
Dock10	A	C	1: 80,510,417 (GRCm38)	S2010A	probably benign	Het
Dqx1	A	G	6: 83,059,479 (GRCm38)	T155A	probably benign	Het
Dysf	G	A	6: 84,186,509 (GRCm38)		probably null	Het
Eci1	T	C	17: 24,436,277 (GRCm38)	W119R	probably damaging	Het
Foxo1	C	A	3: 52,345,419 (GRCm38)	D334E	probably benign	Het
Gck	T	C	11: 5,910,295 (GRCm38)	T116A	probably benign	Het
Gcn1l1	T	C	5: 115,588,050 (GRCm38)	V588A	probably benign	Het
Gm7168	A	G	17: 13,949,003 (GRCm38)	I211V	probably benign	Het
Idh3g	A	T	X: 73,782,004 (GRCm38)		probably null	Het
Jag1	A	G	2: 137,101,658 (GRCm38)	F206S	probably damaging	Het
Loxl3	G	A	6: 83,037,584 (GRCm38)	V158I	probably benign	Het
Ly6g	A	G	15: 75,155,718 (GRCm38)		probably null	Het
Myo1b	A	G	1: 51,778,526 (GRCm38)	F532L	probably damaging	Het
Naip1	T	A	13: 100,426,176 (GRCm38)	N827I	probably damaging	Het
Nlrp9c	G	A	7: 26,384,661 (GRCm38)	H498Y	possibly damaging	Het
Olfr149	A	G	9: 39,702,091 (GRCm38)	I226T	probably benign	Het
Pak2	C	G	16: 32,052,187 (GRCm38)	G59A	probably benign	Het
Pcdha2	T	A	18: 36,941,476 (GRCm38)	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,401,115 (GRCm38)	M54K	probably benign	Het
Pde2a	A	G	7: 101,481,383 (GRCm38)	*71W	probably null	Het
Pkd2l1	T	C	19: 44,192,181 (GRCm38)	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,523,649 (GRCm38)	Y1306S	probably benign	Het
Plec	T	C	15: 76,180,215 (GRCm38)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 105,381,398 (GRCm38)	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,366,448 (GRCm38)	G647C	probably damaging	Het
Ptch1	C	T	13: 63,534,329 (GRCm38)	R537H	probably damaging	Het
Qser1	A	G	2: 104,776,384 (GRCm38)	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,198 (GRCm38)	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,281,448 (GRCm38)		probably null	Het
Riok1	T	C	13: 38,048,955 (GRCm38)	F216L	probably damaging	Het
Rrm1	T	A	7: 102,457,198 (GRCm38)	I308N	probably damaging	Het
Smox	G	A	2: 131,524,850 (GRCm38)	M576I	possibly damaging	Het
Spaca7	A	T	8: 12,586,435 (GRCm38)	N87I	probably damaging	Het
Spink5	A	T	18: 43,987,867 (GRCm38)	Q296L	probably benign	Het
Sspo	T	C	6: 48,498,395 (GRCm38)		probably null	Het
Sult2b1	T	A	7: 45,735,311 (GRCm38)	I114F	probably damaging	Het
Tex12	T	C	9: 50,559,287 (GRCm38)		probably null	Het
Tonsl	A	G	15: 76,624,475 (GRCm38)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsen54	T	C	11: 115,820,852 (GRCm38)	V365A	probably damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Usp47	T	C	7: 112,087,884 (GRCm38)	L683P	probably damaging	Het
Wdr18	T	C	10: 79,965,041 (GRCm38)	L146P	probably damaging	Het
Zfp709	A	G	8: 71,889,906 (GRCm38)	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,960,864 (GRCm38)	I828N	possibly damaging	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
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
R8962:Serpina1f	UTSW	12	103,689,872 (GRCm38)	missense	probably benign	0.01
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'- ATGCCTCTGGGTAGTTCCTG -3'
(R):5'- ATGATACTGGGGCTCCAAGAGG -3'

Sequencing Primer
(F):5'- GGGGATCACCTTGTCAATAATTGTC -3'
(R):5'- TCCAAGAGGAGGCTCCG -3'

Posted On

2015-06-10