Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Serpina1f'

427752

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

042985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103654303-103661788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103660203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 26 (K26N)

Ref Sequence

ENSEMBL: ENSMUSP00000113736 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021490
AA Change: K26N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: K26N

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: K26N

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: K26N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118101
AA Change: K26N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: K26N

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: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,871,331 (GRCm39)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,526,466 (GRCm39)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,642,747 (GRCm39)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Sez6l2	T	A	7: 126,561,058 (GRCm39)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	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
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
R8810:Serpina1f	UTSW	12	103,660,240 (GRCm39)	missense	probably benign	0.00
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'- AGTTGCCATTGGATCCCAG -3'
(R):5'- AGCTATAGAAAGTGCCGGGC -3'

Sequencing Primer
(F):5'- TTGGATCCCAGGGACAGCATTG -3'
(R):5'- CACAGGAATAGGAAACTGTGGTTGC -3'

Posted On

2016-09-01