Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Serpina12'

554574

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103995028-104010702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104001976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 247 (Y247H)

Ref Sequence

ENSEMBL: ENSMUSP00000045572 (fasta)

Gene Model

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

AlphaFold

Q7TMF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043915
AA Change: Y247H

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

SMART Domains

Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: Y247H

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

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,086,610 (GRCm39)	N801D	probably benign	Het
Adcy2	T	C	13: 68,826,721 (GRCm39)	K661R	probably benign	Het
Akap1	A	T	11: 88,735,204 (GRCm39)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,373,825 (GRCm39)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,382,022 (GRCm39)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm39)	H340L	probably benign	Het
Cd5	A	G	19: 10,703,750 (GRCm39)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,785,138 (GRCm39)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,504,386 (GRCm39)	I59T	probably damaging	Het
Cutc	G	T	19: 43,756,708 (GRCm39)	A267S	probably damaging	Het
Dmwd	A	G	7: 18,814,643 (GRCm39)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,042,738 (GRCm39)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,412,508 (GRCm39)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,617,918 (GRCm39)	I260T	probably benign	Het
Drd5	T	C	5: 38,477,927 (GRCm39)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,179,300 (GRCm39)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,383,634 (GRCm39)	E617*	probably null	Het
Dusp15	G	A	2: 152,787,396 (GRCm39)	H72Y	probably benign	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Fbxl13	T	A	5: 21,727,146 (GRCm39)	I584L	probably benign	Het
Gsap	T	C	5: 21,391,407 (GRCm39)	L16P	probably damaging	Het
Hgsnat	C	T	8: 26,435,227 (GRCm39)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,335,147 (GRCm39)	T161A		Het
Hspg2	T	C	4: 137,277,684 (GRCm39)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,355,485 (GRCm39)	P108S	probably benign	Het
Il17ra	A	T	6: 120,458,367 (GRCm39)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,144,734 (GRCm39)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 127,319,398 (GRCm39)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,685,626 (GRCm39)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,305,249 (GRCm39)		probably null	Het
Klrd1	A	G	6: 129,573,670 (GRCm39)	T120A	unknown	Het
Lfng	A	G	5: 140,598,283 (GRCm39)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,802,095 (GRCm39)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,217,211 (GRCm39)	P342L	probably damaging	Het
Lum	A	C	10: 97,404,738 (GRCm39)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Nlrc4	T	C	17: 74,753,304 (GRCm39)	T360A	probably damaging	Het
Or4c1	T	C	2: 89,133,727 (GRCm39)	I70V	probably benign	Het
Or7g32	T	C	9: 19,389,357 (GRCm39)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm39)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,438,036 (GRCm39)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,484,901 (GRCm39)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,149,323 (GRCm39)	N349T	probably benign	Het
Poc1a	A	G	9: 106,227,028 (GRCm39)	Q420R		Het
Prl7d1	A	T	13: 27,898,320 (GRCm39)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,662,061 (GRCm39)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,570,203 (GRCm39)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,001,970 (GRCm39)	V166A		Het
Robo4	T	C	9: 37,322,687 (GRCm39)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,118,326 (GRCm39)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,345 (GRCm39)	T553A	probably benign	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Ston2	G	T	12: 91,615,276 (GRCm39)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,283,023 (GRCm39)	S1557P	probably damaging	Het
Syt6	C	T	3: 103,482,769 (GRCm39)	R26W	possibly damaging	Het
Tep1	C	T	14: 51,066,684 (GRCm39)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,328,771 (GRCm39)	T637A	possibly damaging	Het
Tnn	A	T	1: 159,913,647 (GRCm39)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,315,888 (GRCm39)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,579,862 (GRCm39)	V31A	possibly damaging	Het
Trpc7	G	T	13: 57,035,321 (GRCm39)	T204K	probably benign	Het
Urgcp	T	C	11: 5,667,996 (GRCm39)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 11,994,590 (GRCm39)	I6K	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
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
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'- TCTCTGTGGACAAAGCTCTG -3'
(R):5'- CATCACTGCCCCTGAATCTG -3'

Sequencing Primer
(F):5'- GTGGACAAAGCTCTGACTTTACC -3'
(R):5'- TGCCCCTGAATCTGGTGGAC -3'

Posted On

2019-06-07