Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Pramel7'

73265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

PRAME like 7

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

87319432-87322762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87321717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 106 (D106V)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026957]

AlphaFold

Q810Y8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026957
AA Change: D106V

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: D106V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	207	407	3e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148030

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Adss1	T	C	12: 112,601,170 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cep192	C	T	18: 67,991,974 (GRCm39)	P1951S	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Endod1	A	T	9: 14,268,535 (GRCm39)	S317T	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fam222a	T	A	5: 114,732,514 (GRCm39)	L23Q	possibly damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Timp4	T	C	6: 115,223,269 (GRCm39)	Y218C	possibly damaging	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	probably damaging	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Pramel7	APN	2	87,321,429 (GRCm39)	missense	probably damaging	1.00
IGL01365:Pramel7	APN	2	87,321,757 (GRCm39)	splice site	probably benign
IGL01728:Pramel7	APN	2	87,321,674 (GRCm39)	missense	possibly damaging	0.95
IGL01769:Pramel7	APN	2	87,319,932 (GRCm39)	missense	probably benign	0.09
IGL01932:Pramel7	APN	2	87,321,457 (GRCm39)	missense	possibly damaging	0.80
IGL02971:Pramel7	APN	2	87,320,417 (GRCm39)	missense	probably benign	0.03
IGL03376:Pramel7	APN	2	87,319,947 (GRCm39)	missense	probably damaging	1.00
IGL03380:Pramel7	APN	2	87,321,716 (GRCm39)	missense	probably benign	0.38
R0625:Pramel7	UTSW	2	87,321,352 (GRCm39)	missense	probably benign	0.02
R1077:Pramel7	UTSW	2	87,321,534 (GRCm39)	missense	probably damaging	1.00
R1455:Pramel7	UTSW	2	87,320,067 (GRCm39)	missense	probably benign	0.00
R1666:Pramel7	UTSW	2	87,322,747 (GRCm39)	missense	probably damaging	0.99
R1863:Pramel7	UTSW	2	87,321,675 (GRCm39)	missense	probably benign	0.35
R1977:Pramel7	UTSW	2	87,321,465 (GRCm39)	missense	probably benign	0.01
R2141:Pramel7	UTSW	2	87,320,321 (GRCm39)	missense	probably damaging	1.00
R3027:Pramel7	UTSW	2	87,321,747 (GRCm39)	missense	probably benign	0.01
R4374:Pramel7	UTSW	2	87,320,415 (GRCm39)	missense	probably benign	0.05
R4735:Pramel7	UTSW	2	87,321,187 (GRCm39)	nonsense	probably null
R5232:Pramel7	UTSW	2	87,320,320 (GRCm39)	missense	probably damaging	0.97
R6255:Pramel7	UTSW	2	87,320,007 (GRCm39)	missense	probably benign	0.00
R6611:Pramel7	UTSW	2	87,320,393 (GRCm39)	missense	probably damaging	1.00
R6898:Pramel7	UTSW	2	87,320,070 (GRCm39)	missense	probably damaging	0.98
R7246:Pramel7	UTSW	2	87,322,509 (GRCm39)	missense	probably damaging	1.00
R7293:Pramel7	UTSW	2	87,322,706 (GRCm39)	missense	probably benign	0.28
R7408:Pramel7	UTSW	2	87,321,189 (GRCm39)	missense	possibly damaging	0.89
R7431:Pramel7	UTSW	2	87,320,282 (GRCm39)	missense	possibly damaging	0.65
R7469:Pramel7	UTSW	2	87,321,748 (GRCm39)	missense	probably benign	0.01
R8300:Pramel7	UTSW	2	87,319,967 (GRCm39)	missense	probably benign	0.01
R8803:Pramel7	UTSW	2	87,320,405 (GRCm39)	missense	probably benign	0.00
R8940:Pramel7	UTSW	2	87,321,612 (GRCm39)	missense	probably benign	0.03
R9281:Pramel7	UTSW	2	87,321,495 (GRCm39)	missense	probably damaging	1.00
R9723:Pramel7	UTSW	2	87,320,019 (GRCm39)	missense	possibly damaging	0.85

Posted On

2013-10-07