Mutagenetix > Incidental Mutations

Incidental Mutation 'R6611:Pramel7'

523557

Institutional Source

Beutler Lab

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

preferentially expressed antigen in melanoma like 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R6611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87490049 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 300 (I300T)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026957]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026957
AA Change: I300T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: I300T

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	207	407	3e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148030

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,966,779	T126S	probably benign	Het
Bex6	A	G	16: 32,186,665	K97R	probably benign	Het
Brca2	T	C	5: 150,536,193	L311P	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdc16	C	A	8: 13,781,512	P582T	probably benign	Het
Cep112	T	C	11: 108,506,551	I280T	possibly damaging	Het
Chd2	A	G	7: 73,493,565	F527L	probably damaging	Het
Drc3	G	T	11: 60,364,947	R120L	probably damaging	Het
Efcab6	T	A	15: 83,892,835	R1133S	possibly damaging	Het
Fer1l5	T	C	1: 36,406,654	V834A	probably benign	Het
Flnb	A	G	14: 7,915,318	Y1483C	probably damaging	Het
Fstl4	A	T	11: 53,186,725	M770L	probably benign	Het
Gm10428	A	T	11: 62,753,289		probably benign	Het
Gm4788	A	G	1: 139,732,390	Y666H	probably damaging	Het
Hmbs	C	A	9: 44,341,691	R15L	probably damaging	Het
Irx3	T	C	8: 91,800,003	T358A	probably damaging	Het
Kmt2a	T	A	9: 44,849,272	I460L	probably damaging	Het
Mob2	G	T	7: 142,009,556	F55L	probably damaging	Het
Muc6	G	C	7: 141,640,433		probably benign	Het
Ntrk2	T	C	13: 59,054,414	L612P	probably damaging	Het
Obscn	A	G	11: 59,064,230		probably null	Het
Olfr1106	A	T	2: 87,049,233	M1K	probably null	Het
Olfr907	A	T	9: 38,499,238	T190S	probably damaging	Het
Olfr984	T	C	9: 40,101,020	I157V	probably benign	Het
Oxct2a	T	C	4: 123,322,847	E247G	probably damaging	Het
Phykpl	G	T	11: 51,598,354	A336S	probably damaging	Het
Pik3r4	T	G	9: 105,644,277	L14R	probably damaging	Het
Pnpla1	A	G	17: 28,881,047	N296S	probably benign	Het
Rictor	T	G	15: 6,750,659	C132G	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Slc9a9	G	T	9: 94,939,478	R306L	probably benign	Het
Smc5	A	G	19: 23,228,919	V681A	probably benign	Het
Snap91	C	T	9: 86,790,127	S646N	probably benign	Het
Ssh3	T	C	19: 4,264,422	N368S	probably damaging	Het
Syne1	A	T	10: 5,045,273	N8326K	probably benign	Het
Traf3	T	G	12: 111,237,640	L21R	possibly damaging	Het
Ubxn11	C	A	4: 134,123,599	T254K	probably damaging	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Pramel7	APN	2	87491085	missense	probably damaging	1.00
IGL01302:Pramel7	APN	2	87491373	missense	possibly damaging	0.58
IGL01365:Pramel7	APN	2	87491413	splice site	probably benign
IGL01728:Pramel7	APN	2	87491330	missense	possibly damaging	0.95
IGL01769:Pramel7	APN	2	87489588	missense	probably benign	0.09
IGL01932:Pramel7	APN	2	87491113	missense	possibly damaging	0.80
IGL02971:Pramel7	APN	2	87490073	missense	probably benign	0.03
IGL03376:Pramel7	APN	2	87489603	missense	probably damaging	1.00
IGL03380:Pramel7	APN	2	87491372	missense	probably benign	0.38
R0625:Pramel7	UTSW	2	87491008	missense	probably benign	0.02
R1077:Pramel7	UTSW	2	87491190	missense	probably damaging	1.00
R1455:Pramel7	UTSW	2	87489723	missense	probably benign	0.00
R1666:Pramel7	UTSW	2	87492403	missense	probably damaging	0.99
R1863:Pramel7	UTSW	2	87491331	missense	probably benign	0.35
R1977:Pramel7	UTSW	2	87491121	missense	probably benign	0.01
R2141:Pramel7	UTSW	2	87489977	missense	probably damaging	1.00
R3027:Pramel7	UTSW	2	87491403	missense	probably benign	0.01
R4374:Pramel7	UTSW	2	87490071	missense	probably benign	0.05
R4735:Pramel7	UTSW	2	87490843	nonsense	probably null
R5232:Pramel7	UTSW	2	87489976	missense	probably damaging	0.97
R6255:Pramel7	UTSW	2	87489663	missense	probably benign	0.00
R6898:Pramel7	UTSW	2	87489726	missense	probably damaging	0.98
R7246:Pramel7	UTSW	2	87492165	missense	probably damaging	1.00
R7293:Pramel7	UTSW	2	87492362	missense	probably benign	0.28
R7408:Pramel7	UTSW	2	87490845	missense	possibly damaging	0.89
R7431:Pramel7	UTSW	2	87489938	missense	possibly damaging	0.65
R7469:Pramel7	UTSW	2	87491404	missense	probably benign	0.01
R8300:Pramel7	UTSW	2	87489623	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTGCATTTGATCAGGGCAG -3'
(R):5'- CTTGCTTTCAGAGACTAGGAGAG -3'

Sequencing Primer
(F):5'- GGTCCTGAAGTGAGAATCATCCATC -3'
(R):5'- GTTAGCTGTAGAATTAGCCAGACCC -3'

Posted On

2018-06-22