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

epserin, 0610012A11Rik

MMRRC Submission

042985-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103688044-103695529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103693944 bp (GRCm38)

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: 118,907,596	E689D	probably damaging	Het
Acsl6	A	G	11: 54,337,171	E339G	probably benign	Het
Adcy3	G	A	12: 4,209,308	E861K	probably damaging	Het
Adrm1	C	T	2: 180,176,137	T394I	probably benign	Het
Adsl	T	A	15: 80,952,183		probably null	Het
Asxl3	T	A	18: 22,524,494	C1854S	probably damaging	Het
C87436	A	G	6: 86,465,850	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,465,779	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,276,092	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,964,376	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,723	Y90C	probably damaging	Het
Chadl	T	C	15: 81,693,899	R510G	probably benign	Het
Clcnkb	T	C	4: 141,413,900	T115A	probably benign	Het
Clptm1	C	A	7: 19,633,816		probably benign	Het
Col24a1	A	T	3: 145,315,025	R386*	probably null	Het
Ctsj	G	T	13: 61,004,523	L10M	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dhx40	T	C	11: 86,797,691	D302G	probably benign	Het
Edrf1	T	C	7: 133,641,402	F166L	possibly damaging	Het
Epha1	A	T	6: 42,365,871	M248K	probably damaging	Het
Evpl	C	A	11: 116,234,259	V126L	probably benign	Het
Fam83d	T	C	2: 158,785,632	C414R	possibly damaging	Het
Fat2	T	C	11: 55,303,688	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,918,802	T283I	probably benign	Het
Fuca1	A	G	4: 135,922,980	T121A	probably damaging	Het
Gm13941	A	T	2: 111,094,734	S175T	unknown	Het
Gpr107	T	A	2: 31,185,548	I357N	probably damaging	Het
Gpr161	T	A	1: 165,321,461	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,619,150	F327L	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Itgb7	A	T	15: 102,217,309	D628E	probably benign	Het
Nwd1	A	G	8: 72,666,694	D236G	possibly damaging	Het
Olfr214	A	T	6: 116,557,205	Y260F	probably damaging	Het
Olfr663	C	T	7: 104,703,716	L50F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,356,955	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,582,935	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,837,554	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,639,748	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,805,950	L3259P	probably damaging	Het
Prkg2	A	T	5: 98,943,467	D641E	probably benign	Het
Psg26	T	C	7: 18,482,600	T105A	probably benign	Het
Ptprs	T	C	17: 56,435,724	T473A	probably damaging	Het
Pwp2	G	T	10: 78,183,001	N57K	probably damaging	Het
Rnf216	G	T	5: 143,015,771	C733*	probably null	Het
Sez6l2	T	A	7: 126,961,886	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,576,793	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,376,989	S117P	probably benign	Het
Sorl1	A	T	9: 42,002,636	C1332*	probably null	Het
Specc1	T	C	11: 62,118,909	V497A	probably benign	Het
Tmem204	T	C	17: 25,058,326	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,147,023		probably null	Het
Ttll5	G	A	12: 86,012,828	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,941,178	T681I	probably damaging	Het
Ubqln3	C	T	7: 104,141,672	V404I	probably benign	Het
Yeats2	T	C	16: 20,211,569	S919P	probably benign	Het
Zfp575	C	T	7: 24,586,722	G3D	probably benign	Het
Zfp644	C	T	5: 106,618,428		silent	Het

Other mutations in Serpina1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Serpina1f	APN	12	103691869	missense	probably benign	0.02
IGL00757:Serpina1f	APN	12	103693462	missense	probably damaging	1.00
IGL01123:Serpina1f	APN	12	103694006	missense	possibly damaging	0.47
IGL01695:Serpina1f	APN	12	103693684	missense	probably damaging	1.00
IGL01791:Serpina1f	APN	12	103693502	missense	probably damaging	1.00
IGL01868:Serpina1f	APN	12	103693445	missense	probably benign	0.24
IGL02135:Serpina1f	APN	12	103693715	missense	possibly damaging	0.90
IGL03025:Serpina1f	APN	12	103693546	missense	probably damaging	0.99
IGL03331:Serpina1f	APN	12	103690891	missense	probably benign	0.04
R0084:Serpina1f	UTSW	12	103693588	missense	possibly damaging	0.82
R0492:Serpina1f	UTSW	12	103693567	missense	possibly damaging	0.72
R0893:Serpina1f	UTSW	12	103693835	missense	probably damaging	0.97
R2202:Serpina1f	UTSW	12	103693396	missense	possibly damaging	0.75
R3974:Serpina1f	UTSW	12	103693571	nonsense	probably null
R4179:Serpina1f	UTSW	12	103691920	missense	probably benign	0.08
R4736:Serpina1f	UTSW	12	103693546	missense	probably damaging	0.97
R4948:Serpina1f	UTSW	12	103689751	missense	probably damaging	1.00
R5092:Serpina1f	UTSW	12	103693550	missense	probably damaging	1.00
R5887:Serpina1f	UTSW	12	103689787	missense	possibly damaging	0.85
R5887:Serpina1f	UTSW	12	103693631	nonsense	probably null
R6413:Serpina1f	UTSW	12	103693694	missense	probably damaging	1.00
R6566:Serpina1f	UTSW	12	103693535	missense	probably damaging	1.00
R7371:Serpina1f	UTSW	12	103689827	missense	probably damaging	0.96
R7419:Serpina1f	UTSW	12	103689842	missense	probably damaging	1.00
R7527:Serpina1f	UTSW	12	103691908	missense	probably benign	0.16
R7943:Serpina1f	UTSW	12	103693690	missense	probably damaging	0.98
R8249:Serpina1f	UTSW	12	103693768	missense	probably damaging	1.00
R8270:Serpina1f	UTSW	12	103693498	missense	probably damaging	1.00
R8810:Serpina1f	UTSW	12	103693981	missense	probably benign	0.00
R8962:Serpina1f	UTSW	12	103689872	missense	probably benign	0.01
R9657:Serpina1f	UTSW	12	103689791	nonsense	probably null
Z1176:Serpina1f	UTSW	12	103691866	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