Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Serpina12'

207823

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

039872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103995028-104010702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103998769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 323 (L323Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

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

AlphaFold

Q7TMF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043915
AA Change: L323Q

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

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: L323Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	Het

Other mutations in Serpina12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Serpina12	APN	12	103,997,373 (GRCm39)	missense	probably benign	0.01
IGL00976:Serpina12	APN	12	103,998,787 (GRCm39)	missense	probably damaging	1.00
IGL01592:Serpina12	APN	12	104,004,381 (GRCm39)	missense	probably damaging	1.00
IGL02355:Serpina12	APN	12	104,004,140 (GRCm39)	missense	probably benign	0.00
IGL02362:Serpina12	APN	12	104,004,140 (GRCm39)	missense	probably benign	0.00
IGL02648:Serpina12	APN	12	104,004,267 (GRCm39)	missense	probably benign	0.02
IGL03011:Serpina12	APN	12	103,997,397 (GRCm39)	missense	possibly damaging	0.86
IGL03156:Serpina12	APN	12	104,004,158 (GRCm39)	missense	probably damaging	1.00
sabina	UTSW	12	104,004,179 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Serpina12	UTSW	12	104,001,976 (GRCm39)	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104,004,216 (GRCm39)	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104,004,216 (GRCm39)	missense	probably damaging	1.00
R0448:Serpina12	UTSW	12	104,004,354 (GRCm39)	missense	probably benign	0.20
R0465:Serpina12	UTSW	12	104,004,104 (GRCm39)	missense	probably benign	0.04
R0480:Serpina12	UTSW	12	104,001,960 (GRCm39)	missense	probably damaging	1.00
R0498:Serpina12	UTSW	12	104,002,048 (GRCm39)	missense	probably damaging	1.00
R0503:Serpina12	UTSW	12	103,997,418 (GRCm39)	missense	probably damaging	0.97
R0581:Serpina12	UTSW	12	103,997,399 (GRCm39)	missense	probably damaging	0.97
R1393:Serpina12	UTSW	12	104,004,009 (GRCm39)	missense	possibly damaging	0.73
R1956:Serpina12	UTSW	12	104,002,048 (GRCm39)	missense	probably damaging	1.00
R3125:Serpina12	UTSW	12	104,004,242 (GRCm39)	missense	probably benign
R4093:Serpina12	UTSW	12	104,004,183 (GRCm39)	missense	probably damaging	1.00
R4584:Serpina12	UTSW	12	104,004,611 (GRCm39)	missense	unknown
R4897:Serpina12	UTSW	12	104,004,056 (GRCm39)	missense	possibly damaging	0.60
R5117:Serpina12	UTSW	12	104,004,009 (GRCm39)	missense	possibly damaging	0.73
R5167:Serpina12	UTSW	12	104,004,179 (GRCm39)	missense	probably damaging	1.00
R5344:Serpina12	UTSW	12	104,001,807 (GRCm39)	splice site	probably null
R5720:Serpina12	UTSW	12	104,004,563 (GRCm39)	missense	probably benign	0.05
R6011:Serpina12	UTSW	12	104,001,993 (GRCm39)	missense	probably damaging	1.00
R6027:Serpina12	UTSW	12	103,997,336 (GRCm39)	missense	probably benign	0.01
R6170:Serpina12	UTSW	12	104,004,500 (GRCm39)	missense	probably benign	0.03
R7538:Serpina12	UTSW	12	104,004,587 (GRCm39)	missense	unknown
R7899:Serpina12	UTSW	12	104,004,524 (GRCm39)	missense	probably benign	0.01
R9649:Serpina12	UTSW	12	104,004,317 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCTTTGCCTGGGATCACAG -3'
(R):5'- CTTGAATCCCAGAGTTGAGCCTC -3'

Sequencing Primer
(F):5'- TTTGCCTGGGATCACAGAGCTC -3'
(R):5'- AGAGTTGAGCCTCTCTTATTCCAAGG -3'

Posted On

2014-06-23