Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Peg12'

201489

Institutional Source

Beutler Lab

Gene Symbol

Peg12

Ensembl Gene

ENSMUSG00000070526

Gene Name

paternally expressed 12

Synonyms

Frat3

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62111619-62114258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62113308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 263 (E263V)

Ref Sequence

ENSEMBL: ENSMUSP00000091897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094339]

AlphaFold

Q9WVA7

Predicted Effect

unknown
Transcript: ENSMUST00000094339
AA Change: E263V

SMART Domains

Protein: ENSMUSP00000091897
Gene: ENSMUSG00000070526
AA Change: E263V

Domain	Start	End	E-Value	Type
Pfam:GSK-3_bind	1	232	4.5e-120	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

PHENOTYPE: Homozygous mice are healthy and fertile with no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,873,986 (GRCm39)	R412G	probably damaging	Het
Adamts3	T	A	5: 89,832,326 (GRCm39)	N927Y	probably benign	Het
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Agpat3	C	A	10: 78,123,881 (GRCm39)		probably benign	Het
AI182371	T	A	2: 34,975,733 (GRCm39)	Q277L	possibly damaging	Het
Arhgef15	A	T	11: 68,845,342 (GRCm39)	L170Q	possibly damaging	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Bspry	G	C	4: 62,404,791 (GRCm39)	A196P	probably damaging	Het
Cacna1c	T	A	6: 118,570,988 (GRCm39)	L2095F	probably damaging	Het
Cdhr2	A	T	13: 54,874,651 (GRCm39)	S908C	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Dynap	A	G	18: 70,375,105 (GRCm39)	S37P	possibly damaging	Het
Efna5	A	T	17: 62,914,467 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Fbxw16	T	A	9: 109,277,232 (GRCm39)	S37C	probably damaging	Het
Galnt4	A	G	10: 98,944,374 (GRCm39)	Y33C	probably benign	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Krt71	C	A	15: 101,647,753 (GRCm39)	E222D	probably damaging	Het
Ltf	T	A	9: 110,858,636 (GRCm39)	D461E	possibly damaging	Het
Mapk4	A	T	18: 74,068,109 (GRCm39)	L274Q	probably damaging	Het
Mbd6	A	G	10: 127,122,741 (GRCm39)	C103R	probably damaging	Het
Nbeal1	A	G	1: 60,321,030 (GRCm39)	N2047S	probably benign	Het
Nefh	C	T	11: 4,895,184 (GRCm39)	S335N	possibly damaging	Het
Obscn	G	T	11: 58,934,803 (GRCm39)	H4715N	probably damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Or6d13	G	A	6: 116,518,295 (GRCm39)	V294I	possibly damaging	Het
Or8g34	T	A	9: 39,372,772 (GRCm39)	F12Y	probably benign	Het
Pck1	A	G	2: 172,997,003 (GRCm39)	E215G	probably benign	Het
Phkg1	T	A	5: 129,903,103 (GRCm39)	T15S	probably benign	Het
Plekhg1	T	A	10: 3,914,076 (GRCm39)	L1120*	probably null	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rnf112	T	A	11: 61,343,181 (GRCm39)	R165W	probably damaging	Het
Rnf213	A	G	11: 119,293,401 (GRCm39)	T51A	probably benign	Het
Rnf220	A	G	4: 117,130,481 (GRCm39)	L293P	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Rp1	A	G	1: 4,414,851 (GRCm39)	V2087A	probably benign	Het
Rpl7a	A	G	2: 26,801,563 (GRCm39)		probably null	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Skor1	T	G	9: 63,053,133 (GRCm39)	T279P	probably damaging	Het
Son	A	T	16: 91,456,221 (GRCm39)	E1656V	probably damaging	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Treh	T	C	9: 44,594,910 (GRCm39)	V262A	probably benign	Het
Trpm4	A	G	7: 44,954,370 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,708,739 (GRCm39)	I124V	probably benign	Het
Wdr53	T	C	16: 32,075,473 (GRCm39)	V226A	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het

Other mutations in Peg12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0189:Peg12	UTSW	7	62,113,296 (GRCm39)	missense	unknown
R1450:Peg12	UTSW	7	62,113,324 (GRCm39)	nonsense	probably null
R1867:Peg12	UTSW	7	62,113,416 (GRCm39)	missense	probably benign	0.43
R1868:Peg12	UTSW	7	62,113,416 (GRCm39)	missense	probably benign	0.43
R2018:Peg12	UTSW	7	62,113,386 (GRCm39)	missense	probably benign	0.33
R4255:Peg12	UTSW	7	62,113,479 (GRCm39)	missense	possibly damaging	0.93
R6714:Peg12	UTSW	7	62,113,317 (GRCm39)	missense	unknown
R7054:Peg12	UTSW	7	62,113,711 (GRCm39)	missense	possibly damaging	0.51
R9764:Peg12	UTSW	7	62,113,297 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGCAAGTAACGGGGATCATTGTC -3'
(R):5'- AGCAGCTCCTTCTTTCGGGAAAC -3'

Sequencing Primer
(F):5'- aaaaaaaaaaaaaagaaGTCCTGCTG -3'
(R):5'- TCTTTCGGGAAACCTCATCAAGG -3'

Posted On

2014-06-13