Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02135:Serpina1f'

281280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina1f

Ensembl Gene

ENSMUSG00000021081

Gene Name

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

Synonyms

0610012A11Rik, epserin, Serpina2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02135

Quality Score

Status

Chromosome

Chromosomal Location

103654303-103661788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103659974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 103 (T103S)

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: T103S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: T103S

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: T103S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: T103S

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: T103S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: T103S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,205 (GRCm39)	H1034R	possibly damaging	Het
Aoc1l1	G	A	6: 48,952,498 (GRCm39)	R141Q	probably benign	Het
App	A	G	16: 84,876,726 (GRCm39)		probably null	Het
Arhgap23	G	T	11: 97,342,528 (GRCm39)	R270L	probably damaging	Het
Arhgap36	T	C	X: 48,586,066 (GRCm39)	I342T	possibly damaging	Het
Arhgef12	A	T	9: 42,883,461 (GRCm39)	M1356K	possibly damaging	Het
Armh4	T	C	14: 50,011,386 (GRCm39)	K107R	probably damaging	Het
Asap3	A	C	4: 135,968,464 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,167,214 (GRCm39)		probably null	Het
Cdh20	T	A	1: 110,066,004 (GRCm39)	Y759*	probably null	Het
Celsr3	A	G	9: 108,704,755 (GRCm39)	T413A	probably benign	Het
Cep97	A	T	16: 55,743,330 (GRCm39)	I102K	probably damaging	Het
Ces2a	T	C	8: 105,466,813 (GRCm39)	S441P	probably benign	Het
Cops2	T	C	2: 125,674,163 (GRCm39)	T435A	probably benign	Het
Ctc1	A	G	11: 68,911,989 (GRCm39)	N56S	probably benign	Het
Dennd2a	G	A	6: 39,457,205 (GRCm39)	R746*	probably null	Het
Dnah5	T	A	15: 28,248,031 (GRCm39)	C723S	possibly damaging	Het
Dnah7a	A	C	1: 53,662,632 (GRCm39)	V643G	probably benign	Het
Dnah9	A	T	11: 66,008,318 (GRCm39)	S836T	possibly damaging	Het
Edc4	T	A	8: 106,612,454 (GRCm39)	V164D	probably damaging	Het
Gcfc2	A	T	6: 81,918,381 (GRCm39)	D357V	probably damaging	Het
Grem1	T	C	2: 113,580,132 (GRCm39)	N123S	probably damaging	Het
Gria1	T	C	11: 57,076,679 (GRCm39)	V94A	probably damaging	Het
Hipk2	G	A	6: 38,795,934 (GRCm39)	H112Y	possibly damaging	Het
Il7r	T	C	15: 9,508,092 (GRCm39)	N410S	probably benign	Het
Insr	A	T	8: 3,308,741 (GRCm39)	S98R	probably damaging	Het
Klhl7	T	A	5: 24,346,279 (GRCm39)	Y308*	probably null	Het
Lcp1	T	C	14: 75,437,926 (GRCm39)	V112A	probably benign	Het
Map2	A	T	1: 66,419,920 (GRCm39)	R84*	probably null	Het
Mgst1	A	T	6: 138,124,766 (GRCm39)	M27L	probably damaging	Het
Mroh7	A	G	4: 106,559,707 (GRCm39)	L740P	probably damaging	Het
Mybpc3	T	C	2: 90,955,171 (GRCm39)	F507L	possibly damaging	Het
Nqo2	A	T	13: 34,169,326 (GRCm39)	K183*	probably null	Het
Nt5c1b	T	C	12: 10,427,194 (GRCm39)	Y315H	probably damaging	Het
Odc1	T	A	12: 17,597,674 (GRCm39)	I48N	probably damaging	Het
Or2a56	A	G	6: 42,932,585 (GRCm39)	D51G	probably damaging	Het
Or7a37	T	A	10: 78,805,940 (GRCm39)	S152R	probably damaging	Het
Osbpl5	T	A	7: 143,258,862 (GRCm39)	D236V	probably damaging	Het
Prkg1	A	G	19: 30,970,476 (GRCm39)	Y212H	probably benign	Het
Pttg1ip	T	C	10: 77,425,578 (GRCm39)		probably null	Het
Skp2	T	C	15: 9,125,234 (GRCm39)	D115G	probably benign	Het
Slc25a30	C	T	14: 76,004,435 (GRCm39)	V221I	probably benign	Het
Slc7a3	A	C	X: 100,123,098 (GRCm39)	D609E	probably benign	Het
Strc	C	T	2: 121,195,315 (GRCm39)	G1656D	probably damaging	Het
Tbc1d8	A	G	1: 39,441,891 (GRCm39)	F234L	probably damaging	Het
Tgm7	T	G	2: 120,929,519 (GRCm39)	I252L	possibly damaging	Het
Tlr5	A	G	1: 182,800,819 (GRCm39)	D41G	possibly damaging	Het
Tns2	T	C	15: 102,021,461 (GRCm39)	L1034P	probably damaging	Het
Trim15	A	G	17: 37,177,956 (GRCm39)	V13A	probably benign	Het
Uros	C	T	7: 133,288,734 (GRCm39)	V258M	possibly damaging	Het
Wdr75	A	G	1: 45,853,723 (GRCm39)	Y378C	probably damaging	Het
Wdr75	G	A	1: 45,856,608 (GRCm39)		probably null	Het
Wdr82	G	T	9: 106,048,443 (GRCm39)	R9L	possibly damaging	Het
Ybx3	G	A	6: 131,357,892 (GRCm39)	R125C	probably damaging	Het
Zc3h12b	A	G	X: 94,942,870 (GRCm39)	T49A	probably benign	Het
Zfyve27	G	A	19: 42,172,575 (GRCm39)	V279M	probably 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
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
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

Posted On

2015-04-16