Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Serpina12'

32835

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

038332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0038 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103995028-104010702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104004216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 139 (F139L)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

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

AlphaFold

Q7TMF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043915
AA Change: F139L

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

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: F139L

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

Meta Mutation Damage Score

0.5555

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Arl9	G	A	5: 77,154,322 (GRCm39)	E17K	probably benign	Het
Bbs9	G	A	9: 22,415,390 (GRCm39)	V105I	probably benign	Het
Celsr1	A	T	15: 85,813,620 (GRCm39)	N1997K	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col19a1	A	T	1: 24,598,825 (GRCm39)	L56Q	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2b10	G	A	7: 25,614,287 (GRCm39)	A254T	probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Eif2ak2	T	A	17: 79,171,384 (GRCm39)	M340L	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Fat3	T	C	9: 15,826,306 (GRCm39)	T4549A	probably damaging	Het
Fbxw28	A	T	9: 109,167,608 (GRCm39)	W50R	probably damaging	Het
Ggt7	T	C	2: 155,344,701 (GRCm39)	D214G	probably benign	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Grin1	T	C	2: 25,187,471 (GRCm39)	N613S	probably null	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Hr	T	C	14: 70,805,525 (GRCm39)	L1091P	probably damaging	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Ighmbp2	A	G	19: 3,312,097 (GRCm39)	S886P	probably damaging	Het
Iqcg	C	A	16: 32,866,012 (GRCm39)	L110F	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Kremen1	A	C	11: 5,157,703 (GRCm39)		probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Lin52	C	G	12: 84,576,499 (GRCm39)	L111V	probably damaging	Het
Myh15	T	C	16: 48,891,504 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
Pdzd8	A	G	19: 59,288,028 (GRCm39)	I1124T	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Ptprg	T	A	14: 12,213,710 (GRCm38)	M1026K	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rapgef2	T	C	3: 78,976,703 (GRCm39)	I1368V	probably benign	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Sos2	T	G	12: 69,643,467 (GRCm39)	Q971P	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,526,313 (GRCm39)	C857S	probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Trpm7	A	G	2: 126,637,388 (GRCm39)	S204P	probably damaging	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Vmn2r15	T	A	5: 109,441,010 (GRCm39)	T283S	possibly damaging	Het
Wdr6	A	T	9: 108,450,168 (GRCm39)	V1120D	probably damaging	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	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
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
R1847:Serpina12	UTSW	12	103,998,769 (GRCm39)	missense	probably damaging	1.00
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'- TTTCCAGCCAGAGAGGGTAGAGTC -3'
(R):5'- TTCTCCAGTCAGGGTCCAAGAGTG -3'

Sequencing Primer
(F):5'- AGGACTGGGTCAAGTTTCTAACC -3'
(R):5'- TCGACACAACATGGAATTTGGC -3'

Posted On

2013-05-09