Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Serpina12'

480127

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

044199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104028769-104044443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104031077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 395 (Y395F)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

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

AlphaFold

Q7TMF5

Predicted Effect

probably benign
Transcript: ENSMUST00000043915
AA Change: Y395F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: Y395F

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

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,398,177 (GRCm38)	V2299A	probably benign	Het
Acacb	A	G	5: 114,165,600 (GRCm38)	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535 (GRCm38)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025 (GRCm38)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879 (GRCm38)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,244,667 (GRCm38)	L105F	probably damaging	Het
Asah2	T	C	19: 32,044,951 (GRCm38)	N228D	probably benign	Het
Ash1l	T	C	3: 88,985,019 (GRCm38)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056 (GRCm38)	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945 (GRCm38)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578 (GRCm38)		probably null	Het
Csmd2	G	A	4: 128,559,946 (GRCm38)	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341 (GRCm38)		probably benign	Het
Dhrs4	A	G	14: 55,486,123 (GRCm38)	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947 (GRCm38)		probably null	Het
Efcab6	A	G	15: 83,967,721 (GRCm38)	F319L	probably benign	Het
Elane	A	T	10: 79,887,018 (GRCm38)	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597 (GRCm38)	Y197*	probably null	Het
Eno4	A	G	19: 58,946,830 (GRCm38)	D158G	probably damaging	Het
Fam217a	T	A	13: 34,910,994 (GRCm38)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 86,048,086 (GRCm38)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918 (GRCm38)	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295 (GRCm38)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611 (GRCm38)	N194K	possibly damaging	Het
Gm15448	T	C	7: 3,824,639 (GRCm38)	Y173C	possibly damaging	Het
Gnptab	A	G	10: 88,433,225 (GRCm38)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895 (GRCm38)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871 (GRCm38)	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114 (GRCm38)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059 (GRCm38)		probably null	Het
Kif1a	A	T	1: 93,025,643 (GRCm38)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290 (GRCm38)		probably benign	Het
Lypla1	T	C	1: 4,837,076 (GRCm38)		probably null	Het
Man2b1	C	T	8: 85,096,752 (GRCm38)	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176 (GRCm38)	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802 (GRCm38)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376 (GRCm38)	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331 (GRCm38)	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220 (GRCm38)	P1716S	possibly damaging	Het
Olfr1085	T	G	2: 86,657,804 (GRCm38)	Y218S	probably damaging	Het
Olfr157	A	G	4: 43,835,842 (GRCm38)	V216A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
P2ry6	T	G	7: 100,938,508 (GRCm38)	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158 (GRCm38)	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677 (GRCm38)	I822V	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272 (GRCm38)	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913 (GRCm38)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038 (GRCm38)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074 (GRCm38)	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968 (GRCm38)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808 (GRCm38)		probably benign	Het
Sarm1	T	A	11: 78,483,558 (GRCm38)	M577L	probably benign	Het
Scin	T	C	12: 40,077,516 (GRCm38)	Y425C	probably damaging	Het
Sfxn2	T	A	19: 46,582,852 (GRCm38)	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564 (GRCm38)		probably null	Het
Slc7a1	A	C	5: 148,333,964 (GRCm38)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178 (GRCm38)	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318 (GRCm38)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674 (GRCm38)	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463 (GRCm38)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748 (GRCm38)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436 (GRCm38)	D194E	probably benign	Het

Other mutations in Serpina12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Serpina12	APN	12	104,031,114 (GRCm38)	missense	probably benign	0.01
IGL00976:Serpina12	APN	12	104,032,528 (GRCm38)	missense	probably damaging	1.00
IGL01592:Serpina12	APN	12	104,038,122 (GRCm38)	missense	probably damaging	1.00
IGL02355:Serpina12	APN	12	104,037,881 (GRCm38)	missense	probably benign	0.00
IGL02362:Serpina12	APN	12	104,037,881 (GRCm38)	missense	probably benign	0.00
IGL02648:Serpina12	APN	12	104,038,008 (GRCm38)	missense	probably benign	0.02
IGL03011:Serpina12	APN	12	104,031,138 (GRCm38)	missense	possibly damaging	0.86
IGL03156:Serpina12	APN	12	104,037,899 (GRCm38)	missense	probably damaging	1.00
sabina	UTSW	12	104,037,920 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Serpina12	UTSW	12	104,035,717 (GRCm38)	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104,037,957 (GRCm38)	missense	probably damaging	1.00
R0038:Serpina12	UTSW	12	104,037,957 (GRCm38)	missense	probably damaging	1.00
R0448:Serpina12	UTSW	12	104,038,095 (GRCm38)	missense	probably benign	0.20
R0465:Serpina12	UTSW	12	104,037,845 (GRCm38)	missense	probably benign	0.04
R0480:Serpina12	UTSW	12	104,035,701 (GRCm38)	missense	probably damaging	1.00
R0498:Serpina12	UTSW	12	104,035,789 (GRCm38)	missense	probably damaging	1.00
R0503:Serpina12	UTSW	12	104,031,159 (GRCm38)	missense	probably damaging	0.97
R0581:Serpina12	UTSW	12	104,031,140 (GRCm38)	missense	probably damaging	0.97
R1393:Serpina12	UTSW	12	104,037,750 (GRCm38)	missense	possibly damaging	0.73
R1847:Serpina12	UTSW	12	104,032,510 (GRCm38)	missense	probably damaging	1.00
R1956:Serpina12	UTSW	12	104,035,789 (GRCm38)	missense	probably damaging	1.00
R3125:Serpina12	UTSW	12	104,037,983 (GRCm38)	missense	probably benign
R4093:Serpina12	UTSW	12	104,037,924 (GRCm38)	missense	probably damaging	1.00
R4584:Serpina12	UTSW	12	104,038,352 (GRCm38)	missense	unknown
R4897:Serpina12	UTSW	12	104,037,797 (GRCm38)	missense	possibly damaging	0.60
R5117:Serpina12	UTSW	12	104,037,750 (GRCm38)	missense	possibly damaging	0.73
R5167:Serpina12	UTSW	12	104,037,920 (GRCm38)	missense	probably damaging	1.00
R5344:Serpina12	UTSW	12	104,035,548 (GRCm38)	splice site	probably null
R5720:Serpina12	UTSW	12	104,038,304 (GRCm38)	missense	probably benign	0.05
R6011:Serpina12	UTSW	12	104,035,734 (GRCm38)	missense	probably damaging	1.00
R6170:Serpina12	UTSW	12	104,038,241 (GRCm38)	missense	probably benign	0.03
R7538:Serpina12	UTSW	12	104,038,328 (GRCm38)	missense	unknown
R7899:Serpina12	UTSW	12	104,038,265 (GRCm38)	missense	probably benign	0.01
R9649:Serpina12	UTSW	12	104,038,058 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTACAGAGCACAAAGTCCC -3'
(R):5'- CCGCTCTTAGCCTGACATAC -3'

Sequencing Primer
(F):5'- CTAGAGGAAGCTGGGCTGCTG -3'
(R):5'- GCTCTTAGCCTGACATACCCATC -3'

Posted On

2017-06-26