Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Pramel34'

305598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel34

Ensembl Gene

ENSMUSG00000070686

Gene Name

PRAME like 34

Synonyms

C87414

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

93783041-93819368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93786503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 89 (P89S)

Ref Sequence

ENSEMBL: ENSMUSP00000125428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]

AlphaFold

E9PWI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076321
AA Change: P89S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
AA Change: P89S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	67	191	1e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159578
AA Change: P89S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159691

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160382
AA Change: P89S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162964
AA Change: P89S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: P89S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	199	388	1e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably damaging	Het

Other mutations in Pramel34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Pramel34	APN	5	93,784,336 (GRCm39)	missense	probably damaging	1.00
IGL01642:Pramel34	APN	5	93,784,154 (GRCm39)	missense	possibly damaging	0.84
PIT4466001:Pramel34	UTSW	5	93,784,147 (GRCm39)	missense	probably damaging	1.00
R1830:Pramel34	UTSW	5	93,785,545 (GRCm39)	missense	probably benign	0.03
R2071:Pramel34	UTSW	5	93,784,375 (GRCm39)	missense	probably damaging	1.00
R4404:Pramel34	UTSW	5	93,785,572 (GRCm39)	missense	possibly damaging	0.81
R4606:Pramel34	UTSW	5	93,784,461 (GRCm39)	missense	probably damaging	0.96
R4672:Pramel34	UTSW	5	93,784,182 (GRCm39)	missense	probably damaging	0.99
R5056:Pramel34	UTSW	5	93,786,784 (GRCm39)	start gained	probably benign
R5118:Pramel34	UTSW	5	93,785,656 (GRCm39)	missense	probably benign	0.03
R5288:Pramel34	UTSW	5	93,785,607 (GRCm39)	missense	possibly damaging	0.86
R5441:Pramel34	UTSW	5	93,784,456 (GRCm39)	missense	possibly damaging	0.84
R6190:Pramel34	UTSW	5	93,785,937 (GRCm39)	missense	probably benign	0.14
R6513:Pramel34	UTSW	5	93,785,391 (GRCm39)	splice site	probably null
R7464:Pramel34	UTSW	5	93,784,099 (GRCm39)	missense	probably damaging	1.00
R7941:Pramel34	UTSW	5	93,785,887 (GRCm39)	missense	probably benign	0.04
R7961:Pramel34	UTSW	5	93,784,543 (GRCm39)	missense	probably damaging	1.00
R8130:Pramel34	UTSW	5	93,784,597 (GRCm39)	missense	probably damaging	1.00
R8389:Pramel34	UTSW	5	93,785,587 (GRCm39)	missense	probably benign	0.10
R8725:Pramel34	UTSW	5	93,784,316 (GRCm39)	missense	probably damaging	1.00
R8742:Pramel34	UTSW	5	93,785,935 (GRCm39)	missense	probably damaging	0.96
R8812:Pramel34	UTSW	5	93,785,660 (GRCm39)	missense	possibly damaging	0.84
R8849:Pramel34	UTSW	5	93,784,197 (GRCm39)	missense	probably benign	0.01
R8930:Pramel34	UTSW	5	93,785,944 (GRCm39)	missense	probably benign	0.39
R8932:Pramel34	UTSW	5	93,785,944 (GRCm39)	missense	probably benign	0.39
R8976:Pramel34	UTSW	5	93,785,977 (GRCm39)	missense	probably damaging	0.99
R9201:Pramel34	UTSW	5	93,785,937 (GRCm39)	missense	probably benign	0.14
R9229:Pramel34	UTSW	5	93,784,089 (GRCm39)	nonsense	probably null
R9287:Pramel34	UTSW	5	93,785,969 (GRCm39)	missense	possibly damaging	0.77
R9347:Pramel34	UTSW	5	93,786,697 (GRCm39)	missense	probably damaging	0.96
R9536:Pramel34	UTSW	5	93,784,289 (GRCm39)	missense	probably damaging	1.00
RF006:Pramel34	UTSW	5	93,784,562 (GRCm39)	missense	probably benign	0.16

Posted On

2015-04-16