Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00976:Serpina12'

28786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina12

Ensembl Gene

ENSMUSG00000041567

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12

Synonyms

vaspin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

104028769-104044443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104032528 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 317 (Y317C)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043915]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043915
AA Change: Y317C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: Y317C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SERPIN	57	411	1.02e-139	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice hmomozygous for a knock-out allele exhibit increased body weight, epididymal fat pad weight, liver weight, fat cell size, serum total and small density LDL cholesterol, serum leptin, liver triglyceride and insulin resistance when fed a high fat, high sucrose diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 103,183,262		probably benign	Het
Aldob	C	A	4: 49,541,220	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,355,645	M298I	probably benign	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,797,500	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,933,740	H137L	probably benign	Het
Clhc1	G	A	11: 29,561,389	D278N	probably benign	Het
Cntnap3	T	C	13: 64,794,352	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,278,138	V2466G	probably damaging	Het
Dnah8	A	G	17: 30,851,710	T4457A	probably damaging	Het
Gm13078	T	A	4: 143,727,015	M231K	probably damaging	Het
Hectd4	A	G	5: 121,349,106	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,318,972	D316V	probably damaging	Het
Il1rap	T	C	16: 26,698,839	V263A	probably benign	Het
Il6	G	A	5: 30,014,841	G72S	probably benign	Het
Katnal2	T	C	18: 77,017,493	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,144,398	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,522,317		probably null	Het
Nphs1	T	G	7: 30,460,685	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,450,953	V444I	probably benign	Het
Numbl	T	C	7: 27,268,810	V144A	possibly damaging	Het
Olfr952	T	A	9: 39,426,657	Y138F	probably benign	Het
P2rx1	T	C	11: 73,013,000		probably null	Het
Pcdhb3	G	A	18: 37,302,948	V656I	probably benign	Het
Pole	A	G	5: 110,323,572	Y1394C	probably benign	Het
Rbm47	A	G	5: 66,026,738	V174A	possibly damaging	Het
Rhox4f	T	C	X: 37,604,395		probably benign	Het
Slc12a5	T	A	2: 164,979,304	I236N	probably damaging	Het
Slc4a4	G	A	5: 88,954,798	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,807,182		probably null	Het
Sorcs3	A	T	19: 48,767,103	N894I	probably damaging	Het
Stk38l	A	G	6: 146,775,402	E393G	probably benign	Het
Synpo	A	G	18: 60,603,419	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,256,841	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,684,895		probably benign	Het
Unc13d	T	C	11: 116,070,467	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,593,204	N567Y	probably damaging	Het

Other mutations in Serpina12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Serpina12	APN	12	104031114	missense	probably benign	0.01
IGL01592:Serpina12	APN	12	104038122	missense	probably damaging	1.00
IGL02355:Serpina12	APN	12	104037881	missense	probably benign	0.00
IGL02362:Serpina12	APN	12	104037881	missense	probably benign	0.00
IGL02648:Serpina12	APN	12	104038008	missense	probably benign	0.02
IGL03011:Serpina12	APN	12	104031138	missense	possibly damaging	0.86
IGL03156:Serpina12	APN	12	104037899	missense	probably damaging	1.00
sabina	UTSW	12	104037920	missense	probably damaging	1.00
PIT4305001:Serpina12	UTSW	12	104035717	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104037957	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104037957	missense	probably damaging	1.00
R0448:Serpina12	UTSW	12	104038095	missense	probably benign	0.20
R0465:Serpina12	UTSW	12	104037845	missense	probably benign	0.04
R0480:Serpina12	UTSW	12	104035701	missense	probably damaging	1.00
R0498:Serpina12	UTSW	12	104035789	missense	probably damaging	1.00
R0503:Serpina12	UTSW	12	104031159	missense	probably damaging	0.97
R0581:Serpina12	UTSW	12	104031140	missense	probably damaging	0.97
R1393:Serpina12	UTSW	12	104037750	missense	possibly damaging	0.73
R1847:Serpina12	UTSW	12	104032510	missense	probably damaging	1.00
R1956:Serpina12	UTSW	12	104035789	missense	probably damaging	1.00
R3125:Serpina12	UTSW	12	104037983	missense	probably benign
R4093:Serpina12	UTSW	12	104037924	missense	probably damaging	1.00
R4584:Serpina12	UTSW	12	104038352	missense	unknown
R4897:Serpina12	UTSW	12	104037797	missense	possibly damaging	0.60
R5117:Serpina12	UTSW	12	104037750	missense	possibly damaging	0.73
R5167:Serpina12	UTSW	12	104037920	missense	probably damaging	1.00
R5344:Serpina12	UTSW	12	104035548	splice site	probably null
R5720:Serpina12	UTSW	12	104038304	missense	probably benign	0.05
R6011:Serpina12	UTSW	12	104035734	missense	probably damaging	1.00
R6027:Serpina12	UTSW	12	104031077	missense	probably benign	0.01
R6170:Serpina12	UTSW	12	104038241	missense	probably benign	0.03
R7538:Serpina12	UTSW	12	104038328	missense	unknown
R7899:Serpina12	UTSW	12	104038265	missense	probably benign	0.01
R7982:Serpina12	UTSW	12	104038265	missense	probably benign	0.01

Posted On

2013-04-17