Mutagenetix > Incidental Mutations

Incidental Mutation 'R1611:Pramef12'

176786

Institutional Source

Beutler Lab

Gene Symbol

Pramef12

Ensembl Gene

ENSMUSG00000028591

Gene Name

PRAME family member 12

Synonyms

4930569K13Rik

MMRRC Submission

039648-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144391674-144408464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144392812 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 395 (V395E)

Ref Sequence

ENSEMBL: ENSMUSP00000030326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030326] [ENSMUST00000123854]

Predicted Effect

probably benign
Transcript: ENSMUST00000030326
AA Change: V395E

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: V395E

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	414	7e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123854

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	A	1: 136,216,117	P527L	probably damaging	Het
Acsl6	A	T	11: 54,325,564	I186F	possibly damaging	Het
Actr6	T	A	10: 89,732,202	K14*	probably null	Het
Adgrv1	A	T	13: 81,559,117	V1390E	probably damaging	Het
Akap1	C	T	11: 88,845,278	R186K	probably benign	Het
Alg10b	T	A	15: 90,225,781	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,442,852	G407S	probably damaging	Het
Atp9a	T	C	2: 168,673,569	M401V	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bclaf1	T	C	10: 20,323,252		probably benign	Het
Bcr	T	A	10: 75,125,202		probably null	Het
Bivm	T	C	1: 44,126,747	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,381,471	I1632T	probably damaging	Het
Capn9	G	A	8: 124,611,512	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,641,575		probably benign	Het
Cdk18	T	A	1: 132,122,375	I21F	probably damaging	Het
Cep85l	T	C	10: 53,348,681	T271A	probably benign	Het
Chrm5	T	C	2: 112,479,187	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,361,828		probably benign	Het
Cpt1c	T	C	7: 44,960,112	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,249,303	Y64C	unknown	Het
Ddb1	T	A	19: 10,612,888	C260S	probably damaging	Het
Ddb1	T	A	19: 10,626,764		probably null	Het
Ddx58	T	C	4: 40,223,862	Y339C	probably damaging	Het
Depdc5	C	A	5: 32,990,953	Q1478K	probably damaging	Het
Diaph1	A	C	18: 37,900,702	M247R	unknown	Het
Dusp8	T	C	7: 142,082,957	S299G	probably benign	Het
Erbb4	C	A	1: 68,040,388	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,295,265	I370N	possibly damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843	Y27*	probably null	Het
Gnl1	C	T	17: 35,987,549	T395I	probably damaging	Het
Hpse2	G	A	19: 42,789,065	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,009,899	I116V	probably benign	Het
Kif24	A	T	4: 41,423,552	V233E	probably benign	Het
Klhl5	A	G	5: 65,164,649	T673A	probably benign	Het
Kmt2c	C	A	5: 25,359,311		probably null	Het
Lipg	T	C	18: 74,948,059	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,577,218	L109Q	probably null	Het
Lyst	A	G	13: 13,634,897	E384G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Muc4	C	T	16: 32,750,986	T288I	possibly damaging	Het
Naa35	G	T	13: 59,628,933	R574L	probably benign	Het
Ncor2	T	C	5: 125,110,020		probably benign	Het
Nedd9	T	A	13: 41,316,930	D249V	probably benign	Het
Nsg1	T	A	5: 38,138,716	K38*	probably null	Het
Nup155	T	A	15: 8,130,160	D518E	probably damaging	Het
Olfr152	T	A	2: 87,782,624	I28N	probably benign	Het
Ovol1	T	A	19: 5,551,070	H231L	probably damaging	Het
Parg	A	G	14: 32,238,570	I586V	probably damaging	Het
Pde7b	T	C	10: 20,434,490	N242S	probably benign	Het
Pias3	T	A	3: 96,699,697		probably null	Het
Ptprf	A	G	4: 118,236,233	V404A	probably benign	Het
Rnf145	T	C	11: 44,551,798	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,570,852	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,653,505	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,492,874	I213T	possibly damaging	Het
Sil1	A	T	18: 35,269,088	V331E	possibly damaging	Het
Ski	A	G	4: 155,159,938	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,420,379	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,533,377	E75G	probably benign	Het
Sp1	T	A	15: 102,430,935	I436N	probably damaging	Het
Taf4b	A	T	18: 14,844,469	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,956,737		probably benign	Het
Vmn2r1	T	A	3: 64,104,537	C606*	probably null	Het
Wdr63	T	C	3: 146,095,358	Y115C	probably damaging	Het
Zfp341	C	A	2: 154,645,703	H702Q	probably damaging	Het

Other mutations in Pramef12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramef12	APN	4	144394740	missense	possibly damaging	0.91
IGL01107:Pramef12	APN	4	144393094	missense	probably benign	0.00
IGL01935:Pramef12	APN	4	144392602	unclassified	probably benign
IGL02436:Pramef12	APN	4	144392969	missense	possibly damaging	0.95
IGL02491:Pramef12	APN	4	144394752	missense	probably damaging	1.00
IGL02744:Pramef12	APN	4	144392923	missense	probably damaging	1.00
IGL03338:Pramef12	APN	4	144394827	missense	probably benign	0.01
R0005:Pramef12	UTSW	4	144395853	missense	probably damaging	1.00
R1401:Pramef12	UTSW	4	144395088	missense	probably benign	0.00
R1667:Pramef12	UTSW	4	144393036	nonsense	probably null
R2017:Pramef12	UTSW	4	144394674	missense	possibly damaging	0.49
R2290:Pramef12	UTSW	4	144394699	missense	probably benign	0.00
R2290:Pramef12	UTSW	4	144395122	missense	probably benign	0.19
R2310:Pramef12	UTSW	4	144392905	unclassified	probably null
R2912:Pramef12	UTSW	4	144392734	missense	probably damaging	1.00
R2913:Pramef12	UTSW	4	144392734	missense	probably damaging	1.00
R4558:Pramef12	UTSW	4	144395972	start codon destroyed	probably null	1.00
R5162:Pramef12	UTSW	4	144394912	missense	probably damaging	0.96
R5521:Pramef12	UTSW	4	144395971	start codon destroyed	probably null	1.00
R5530:Pramef12	UTSW	4	144392662	missense	probably benign	0.03
R5669:Pramef12	UTSW	4	144395843	missense	probably benign	0.03
R6032:Pramef12	UTSW	4	144393028	missense	possibly damaging	0.82
R6032:Pramef12	UTSW	4	144393028	missense	possibly damaging	0.82
R6314:Pramef12	UTSW	4	144394587	missense	probably damaging	0.98
R6322:Pramef12	UTSW	4	144392905	missense	probably benign	0.09
R6431:Pramef12	UTSW	4	144393083	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGTGTTCTAGATGCTGCATCGCC -3'
(R):5'- AATCAGACTTGCAGTCCCTGTCCC -3'

Sequencing Primer
(F):5'- GCATCGCCTTGCTCAGC -3'
(R):5'- GGTGTCATTCTGACCGACATAAG -3'

Posted On

2014-04-24