Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01837:Pramel19'

154984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel19

Ensembl Gene

ENSMUSG00000070890

Gene Name

PRAME like 19

Synonyms

Gm12794

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01837

Quality Score

Status

Chromosome

Chromosomal Location

101797604-101800380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101798650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 207 (E207G)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052027]

AlphaFold

L7MTS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000052027
AA Change: E207G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: E207G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	257	409	9e-11	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
Abca3	T	C	17: 24,627,671 (GRCm39)	F1372L	probably damaging	Het
Alcam	T	A	16: 52,073,531 (GRCm39)	N339I	probably benign	Het
Ankrd35	A	C	3: 96,587,982 (GRCm39)	D141A	probably damaging	Het
Apc2	A	G	10: 80,150,492 (GRCm39)	I1820V	probably benign	Het
Ccp110	T	A	7: 118,324,684 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,419 (GRCm39)	D954E	probably benign	Het
Csmd2	A	T	4: 128,313,363 (GRCm39)	I1347F	possibly damaging	Het
Ddx10	A	G	9: 53,140,498 (GRCm39)	I301T	probably benign	Het
Defb23	T	A	2: 152,301,294 (GRCm39)	M93L	probably benign	Het
Dnah8	T	C	17: 30,970,565 (GRCm39)		probably null	Het
Dok3	T	C	13: 55,671,383 (GRCm39)	E396G	probably damaging	Het
Eml6	T	A	11: 29,727,055 (GRCm39)	M1318L	probably benign	Het
Foxm1	T	A	6: 128,343,167 (GRCm39)		probably benign	Het
Gm11992	A	T	11: 9,011,266 (GRCm39)	R236W	probably damaging	Het
Greb1	T	C	12: 16,734,452 (GRCm39)	I1513V	probably benign	Het
Hivep3	A	G	4: 119,951,759 (GRCm39)	E25G	possibly damaging	Het
Ighg2b	C	T	12: 113,270,065 (GRCm39)	E318K	unknown	Het
Itga4	T	C	2: 79,145,349 (GRCm39)	S722P	probably damaging	Het
Kirrel3	G	A	9: 34,946,224 (GRCm39)	R617H	probably damaging	Het
Mboat1	A	T	13: 30,425,166 (GRCm39)	H409L	possibly damaging	Het
Naa15	A	T	3: 51,351,369 (GRCm39)	K180*	probably null	Het
Nccrp1	A	G	7: 28,246,191 (GRCm39)	S124P	probably damaging	Het
Nphp4	T	C	4: 152,573,338 (GRCm39)	I92T	probably damaging	Het
Or13a28	G	A	7: 140,218,124 (GRCm39)	C170Y	probably damaging	Het
Or6d14	C	A	6: 116,533,807 (GRCm39)	Y140*	probably null	Het
Pkd1l3	A	G	8: 110,356,798 (GRCm39)	D741G	possibly damaging	Het
Plcb2	C	T	2: 118,542,407 (GRCm39)		probably null	Het
Prm2	G	A	16: 10,609,775 (GRCm39)		probably null	Het
R3hdm1	C	T	1: 128,114,497 (GRCm39)	Q184*	probably null	Het
Rgl1	A	T	1: 152,424,901 (GRCm39)	N359K	probably damaging	Het
Rnf44	A	G	13: 54,829,966 (GRCm39)	Y366H	probably damaging	Het
Rpap2	G	A	5: 107,773,835 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,631,665 (GRCm39)	N2120S	probably damaging	Het
Samd8	A	G	14: 21,825,027 (GRCm39)		probably benign	Het
Sipa1	G	T	19: 5,702,099 (GRCm39)	T937K	probably damaging	Het
Sos1	A	T	17: 80,730,157 (GRCm39)	D707E	probably damaging	Het
Tas2r109	T	C	6: 132,957,477 (GRCm39)	N151S	probably benign	Het
Try5	T	C	6: 41,290,358 (GRCm39)	N42S	probably benign	Het
Ttn	G	T	2: 76,732,338 (GRCm39)		probably benign	Het
Utp14b	A	G	1: 78,642,636 (GRCm39)	E178G	probably damaging	Het

Other mutations in Pramel19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Pramel19	APN	4	101,798,898 (GRCm39)	missense	probably benign	0.02
IGL01360:Pramel19	APN	4	101,797,665 (GRCm39)	missense	possibly damaging	0.94
IGL01870:Pramel19	APN	4	101,797,887 (GRCm39)	missense	probably benign	0.03
IGL02040:Pramel19	APN	4	101,798,331 (GRCm39)	missense	possibly damaging	0.94
IGL03264:Pramel19	APN	4	101,798,329 (GRCm39)	missense	probably damaging	0.99
R0033:Pramel19	UTSW	4	101,798,881 (GRCm39)	missense	probably benign
R0334:Pramel19	UTSW	4	101,798,781 (GRCm39)	missense	probably benign	0.01
R0846:Pramel19	UTSW	4	101,798,447 (GRCm39)	missense	probably benign	0.00
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1774:Pramel19	UTSW	4	101,797,655 (GRCm39)	missense	probably benign	0.27
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R4510:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4511:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4890:Pramel19	UTSW	4	101,798,788 (GRCm39)	missense	probably damaging	0.99
R4960:Pramel19	UTSW	4	101,798,661 (GRCm39)	missense	probably benign
R5043:Pramel19	UTSW	4	101,797,721 (GRCm39)	missense	possibly damaging	0.89
R5297:Pramel19	UTSW	4	101,798,348 (GRCm39)	missense	possibly damaging	0.46
R5780:Pramel19	UTSW	4	101,798,724 (GRCm39)	missense	probably damaging	1.00
R5957:Pramel19	UTSW	4	101,798,898 (GRCm39)	missense	probably benign	0.02
R6409:Pramel19	UTSW	4	101,797,874 (GRCm39)	nonsense	probably null
R6452:Pramel19	UTSW	4	101,798,640 (GRCm39)	missense	probably benign	0.02
R7619:Pramel19	UTSW	4	101,798,497 (GRCm39)	missense	probably benign	0.01
R8460:Pramel19	UTSW	4	101,798,424 (GRCm39)	missense	probably benign	0.00
R9202:Pramel19	UTSW	4	101,797,860 (GRCm39)	missense	probably damaging	0.98
Z1177:Pramel19	UTSW	4	101,798,322 (GRCm39)	nonsense	probably null

Posted On

2014-02-04