Mutagenetix > Incidental Mutation

Incidental Mutation 'R4473:Pramel38'

381230

Institutional Source

Beutler Lab

Gene Symbol

Pramel38

Ensembl Gene

ENSMUSG00000096259

Gene Name

PRAME like 38

Synonyms

Gm3106

MMRRC Submission

041730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R4473 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94365864-94369869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94366029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 49 (N49S)

Ref Sequence

ENSEMBL: ENSMUSP00000137294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179743]

AlphaFold

J3QPH3

Predicted Effect

probably benign
Transcript: ENSMUST00000179743
AA Change: N49S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000137294
Gene: ENSMUSG00000096259
AA Change: N49S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	273	402	3e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,291,313 (GRCm39)	T93K	probably damaging	Het
Actg1	G	A	11: 120,239,085 (GRCm39)	R2C	probably benign	Het
Alb	T	C	5: 90,611,912 (GRCm39)	C114R	probably damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Atp2a2	A	T	5: 122,595,327 (GRCm39)	S1008T	probably benign	Het
Corin	T	C	5: 72,496,400 (GRCm39)	S510G	probably damaging	Het
D630003M21Rik	G	A	2: 158,055,382 (GRCm39)	P585L	probably damaging	Het
Eddm3b	A	G	14: 51,354,236 (GRCm39)	T75A	probably benign	Het
Elavl2	T	C	4: 91,149,246 (GRCm39)		probably null	Het
Erc1	G	T	6: 119,825,417 (GRCm39)		probably null	Het
Fancf	A	G	7: 51,511,948 (GRCm39)	C19R	probably benign	Het
Fastkd2	T	C	1: 63,770,833 (GRCm39)	L63P	probably damaging	Het
Fmo1	A	G	1: 162,677,732 (GRCm39)	V128A	possibly damaging	Het
Ifnar1	T	C	16: 91,292,058 (GRCm39)	V133A	probably damaging	Het
Ighv1-49	A	T	12: 115,018,959 (GRCm39)	Y79N	probably damaging	Het
Klhl23	A	G	2: 69,654,151 (GRCm39)	E7G	possibly damaging	Het
Mthfd2	A	G	6: 83,287,517 (GRCm39)		probably benign	Het
Or5d35	T	A	2: 87,855,464 (GRCm39)	Y133N	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Podnl1	A	T	8: 84,858,614 (GRCm39)	I505F	possibly damaging	Het
Ppp6r3	G	T	19: 3,561,978 (GRCm39)	Q228K	probably damaging	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Skor2	C	T	18: 76,947,156 (GRCm39)	P293S	unknown	Het
Sox18	T	C	2: 181,312,669 (GRCm39)	K154R	probably damaging	Het
Tfpi	A	T	2: 84,288,426 (GRCm39)	L10Q	probably null	Het
Trim66	A	T	7: 109,081,202 (GRCm39)	I239N	probably damaging	Het
Ttll1	T	A	15: 83,376,810 (GRCm39)	K304N	probably damaging	Het
Vmn1r5	G	A	6: 56,962,633 (GRCm39)	V103I	probably benign	Het
Vnn1	T	C	10: 23,770,789 (GRCm39)	W6R	probably benign	Het
Wdr35	A	G	12: 9,065,995 (GRCm39)	Y651C	probably benign	Het

Other mutations in Pramel38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03121:Pramel38	APN	5	94,368,912 (GRCm39)	missense	possibly damaging	0.89
PIT4515001:Pramel38	UTSW	5	94,368,831 (GRCm39)	missense	probably benign	0.11
R6891:Pramel38	UTSW	5	94,365,978 (GRCm39)	missense	probably damaging	1.00
R7190:Pramel38	UTSW	5	94,366,096 (GRCm39)	missense	probably benign	0.00
R8980:Pramel38	UTSW	5	94,366,035 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTAAATGCTTCCCCAGGAG -3'
(R):5'- ACAAAGCCATTCTCCCTGG -3'

Sequencing Primer
(F):5'- AAATGCTTCCCCAGGAGCCTTC -3'
(R):5'- CCTGGCAATGTCTACTGTGTAC -3'

Posted On

2016-04-21