Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Serpina12'

39463

Institutional Source

Beutler Lab

Gene Symbol

Serpina12

Ensembl Gene

ENSMUSG00000041567

Gene Name

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

Synonyms

vaspin

MMRRC Submission

038648-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0448 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104028769-104044443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104038095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 93 (S93P)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

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

AlphaFold

Q7TMF5

Predicted Effect

probably benign
Transcript: ENSMUST00000043915
AA Change: S93P

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: S93P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,933,057	S643C	probably damaging	Het
9530053A07Rik	T	C	7: 28,140,235	I491T	probably benign	Het
Abcc5	G	A	16: 20,399,937	R232C	probably damaging	Het
Adam9	A	G	8: 24,964,910	S732P	probably damaging	Het
Add2	G	A	6: 86,092,919	V140I	probably benign	Het
Ahi1	G	A	10: 20,972,075	G461S	probably damaging	Het
Arhgef7	A	G	8: 11,819,659	T432A	possibly damaging	Het
Arsi	T	C	18: 60,917,302	I419T	probably damaging	Het
Brca1	G	A	11: 101,508,221	P1515L	possibly damaging	Het
Brcc3	T	A	X: 75,450,041	L222*	probably null	Het
Brpf3	A	T	17: 28,806,036	T28S	probably benign	Het
Cdc20b	T	A	13: 113,078,657	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,080,046	S443C	probably benign	Het
Copg1	G	A	6: 87,904,926	A587T	probably benign	Het
Crebrf	A	G	17: 26,743,102	D391G	probably benign	Het
Crocc	A	T	4: 141,042,191	D283E	probably damaging	Het
Cryga	T	C	1: 65,103,159	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,980,948	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,545,728	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,862,394	I328V	probably benign	Het
Dchs1	C	A	7: 105,765,927	E683D	probably benign	Het
Dnah9	T	C	11: 65,918,713		probably benign	Het
Dqx1	T	C	6: 83,060,345	S330P	probably damaging	Het
Epg5	A	G	18: 78,023,365	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,173,940	L742P	probably damaging	Het
Flt1	C	T	5: 147,566,394		probably benign	Het
Gm9513	T	A	9: 36,477,116	M79K	probably benign	Het
Grip2	A	G	6: 91,779,213	S498P	probably damaging	Het
H2-T22	A	G	17: 36,042,386	L14P	possibly damaging	Het
Hephl1	C	T	9: 15,076,926	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523	M162K	unknown	Het
Kcnh8	C	A	17: 52,977,620		probably null	Het
Krt76	T	C	15: 101,890,647	Q201R	probably damaging	Het
Lrpprc	A	T	17: 84,770,894	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,709,305	I489R	probably damaging	Het
Mboat1	G	T	13: 30,202,410	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 9,940,542	*682Q	probably null	Het
Msx2	C	A	13: 53,468,395	R193L	probably damaging	Het
Nfatc4	T	G	14: 55,831,654	D625E	possibly damaging	Het
Nup153	T	C	13: 46,717,181	E86G	probably benign	Het
Olfr1295	T	A	2: 111,565,214	I77F	probably benign	Het
Olfr130	G	T	17: 38,067,672	R167L	probably benign	Het
Pard3b	T	C	1: 62,166,469	L474P	probably damaging	Het
Pggt1b	A	T	18: 46,262,972		probably benign	Het
Pik3r2	A	G	8: 70,772,044		probably benign	Het
Prr14	A	G	7: 127,474,726		probably benign	Het
Rcbtb2	T	C	14: 73,178,429		probably benign	Het
Rufy2	G	A	10: 63,004,736	D429N	probably benign	Het
S1pr5	T	A	9: 21,244,207	T308S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinb1b	T	G	13: 33,089,692	H123Q	probably benign	Het
Sftpc	C	T	14: 70,522,680	V46I	probably benign	Het
Skint8	T	A	4: 111,936,890	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,645,579	N134S	probably benign	Het
Slc25a24	T	C	3: 109,157,016		probably benign	Het
Sorl1	C	G	9: 42,004,088	V1282L	probably damaging	Het
Sptan1	T	A	2: 30,026,810	I2170N	probably damaging	Het
Syne4	A	G	7: 30,314,920		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tg	C	A	15: 66,764,442	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,669,576	D196V	probably damaging	Het
Tpi1	A	G	6: 124,814,103	F57S	probably damaging	Het
Tril	A	G	6: 53,817,808	*810Q	probably null	Het
Trrap	T	A	5: 144,839,567	V2972D	possibly damaging	Het
Ttn	T	C	2: 76,720,939	M31370V	probably damaging	Het
Ttn	A	T	2: 76,761,280	V12688E	probably damaging	Het
Txndc11	A	G	16: 11,091,761	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,714,660	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,451,743	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,297,500	F462S	probably damaging	Het
Zfp101	A	G	17: 33,382,321	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,108,694	N481D	probably benign	Het

Other mutations in Serpina12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Serpina12	APN	12	104031114	missense	probably benign	0.01
IGL00976:Serpina12	APN	12	104032528	missense	probably damaging	1.00
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
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
R9649:Serpina12	UTSW	12	104038058	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTAGTGAGCACCATGTCCGCATC -3'
(R):5'- TTCTCCAGTCAGGGTCCAAGAGTG -3'

Sequencing Primer
(F):5'- ACACATTCTTAGCCAGGTTCAGG -3'
(R):5'- TCCAAGAGTGGAGGGGC -3'

Posted On

2013-05-23