Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01991:Pramel41'

182866

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel41

Ensembl Gene

ENSMUSG00000074011

Gene Name

PRAME like 41

Synonyms

Gm31009, Gm7682

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01991

Quality Score

Status

Chromosome

Chromosomal Location

94593643-94596512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94593705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 10 (Q10L)

Ref Sequence

ENSEMBL: ENSMUSP00000144247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098289] [ENSMUST00000202916]

AlphaFold

A0A0J9YUM1

Predicted Effect

probably benign
Transcript: ENSMUST00000098289
AA Change: Q10L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095890
Gene: ENSMUSG00000074011
AA Change: Q10L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	209	400	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202916
AA Change: Q10L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144247
Gene: ENSMUSG00000074011
AA Change: Q10L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	2e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,854,608 (GRCm39)	F145I	probably benign	Het
Acot7	A	G	4: 152,307,536 (GRCm39)	K152E	possibly damaging	Het
Adamts13	G	T	2: 26,880,610 (GRCm39)	G731V	probably damaging	Het
Als2cl	C	T	9: 110,721,985 (GRCm39)	R584C	probably benign	Het
Apba1	T	A	19: 23,914,836 (GRCm39)	S679T	possibly damaging	Het
Asxl3	G	A	18: 22,649,219 (GRCm39)	V403I	probably damaging	Het
Card11	T	C	5: 140,899,133 (GRCm39)	T14A	possibly damaging	Het
Creb1	T	C	1: 64,598,913 (GRCm39)	F97L	probably benign	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Crtac1	A	T	19: 42,402,560 (GRCm39)	L16Q	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,759 (GRCm39)	I452T	probably damaging	Het
Dennd5b	A	T	6: 148,982,322 (GRCm39)	D95E	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Gm6878	G	A	14: 67,543,678 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,749,682 (GRCm39)	Y1048C	probably damaging	Het
Iqcc	T	A	4: 129,511,582 (GRCm39)	E105V	probably benign	Het
Lhx8	A	G	3: 154,030,191 (GRCm39)	L116P	probably damaging	Het
Lrrk2	A	G	15: 91,664,149 (GRCm39)	D1962G	probably damaging	Het
Map1b	T	A	13: 99,566,077 (GRCm39)	M2215L	unknown	Het
Mapk8ip3	A	T	17: 25,146,835 (GRCm39)	L136Q	possibly damaging	Het
Mical3	T	C	6: 120,912,172 (GRCm39)	N1896D	probably damaging	Het
Mprip	A	G	11: 59,645,838 (GRCm39)	E674G	probably damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Or8j3	T	C	2: 86,028,877 (GRCm39)	N73S	probably benign	Het
Pdzrn4	T	A	15: 92,299,807 (GRCm39)		probably null	Het
Prom1	T	C	5: 44,204,848 (GRCm39)	T209A	probably benign	Het
Prom2	C	A	2: 127,371,142 (GRCm39)	C785F	probably damaging	Het
Psg20	T	C	7: 18,418,350 (GRCm39)	Q139R	probably benign	Het
Rapgef6	T	A	11: 54,443,695 (GRCm39)	C93S	probably benign	Het
Rassf2	C	T	2: 131,842,352 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,648,970 (GRCm39)	I31T	probably damaging	Het
Slc4a5	A	T	6: 83,240,525 (GRCm39)	D164V	possibly damaging	Het
Slco3a1	T	C	7: 73,934,144 (GRCm39)	D676G	possibly damaging	Het
Tmcc2	T	C	1: 132,288,830 (GRCm39)	I208V	probably benign	Het
Traf4	T	C	11: 78,050,872 (GRCm39)	D428G	possibly damaging	Het
Trio	T	C	15: 27,871,360 (GRCm39)	I586V	possibly damaging	Het
Unc80	T	A	1: 66,508,668 (GRCm39)	C46*	probably null	Het
Vmn2r89	A	G	14: 51,689,676 (GRCm39)	N60D	probably benign	Het
Wscd1	A	T	11: 71,678,549 (GRCm39)	K391*	probably null	Het
Wwc2	A	T	8: 48,322,901 (GRCm39)	L400*	probably null	Het

Other mutations in Pramel41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4142001:Pramel41	UTSW	5	94,594,643 (GRCm39)	missense	probably benign	0.02
PIT4445001:Pramel41	UTSW	5	94,596,366 (GRCm39)	missense	probably benign	0.06
PIT4515001:Pramel41	UTSW	5	94,594,694 (GRCm39)	missense	probably benign	0.38
R4410:Pramel41	UTSW	5	94,593,720 (GRCm39)	missense	probably benign	0.44
R6959:Pramel41	UTSW	5	94,594,891 (GRCm39)	missense	possibly damaging	0.60
R7552:Pramel41	UTSW	5	94,596,394 (GRCm39)	missense	probably damaging	1.00
R7952:Pramel41	UTSW	5	94,594,902 (GRCm39)	missense	probably benign	0.00
R8894:Pramel41	UTSW	5	94,596,399 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07