Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Pramel34'

93672

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 #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

93783041-93819368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93784154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 437 (Y437H)

Ref Sequence

ENSEMBL: ENSMUSP00000124780 (fasta)

Gene Model

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

AlphaFold

E9PWI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076321
AA Change: Y240H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
AA Change: Y240H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159691

Predicted Effect

probably benign
Transcript: ENSMUST00000160382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162964
AA Change: Y437H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: Y437H

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Abat	A	T	16: 8,418,783 (GRCm39)	I126F	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Cyp2c23	A	T	19: 43,993,995 (GRCm39)	L457Q	probably damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnab3	A	G	11: 69,221,256 (GRCm39)	E191G	probably benign	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Papss1	G	T	3: 131,288,996 (GRCm39)		probably benign	Het
Pax3	A	G	1: 78,173,300 (GRCm39)		probably null	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (GRCm39)		probably null	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
IGL02735:Pramel34	APN	5	93,786,503 (GRCm39)	missense	possibly damaging	0.94
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

2013-12-09