Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02296:Pramel23'

290171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel23

Ensembl Gene

ENSMUSG00000070617

Gene Name

PRAME like 23

Synonyms

Gm13089

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02296

Quality Score

Status

Chromosome

Chromosomal Location

143423070-143429281 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 143425051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 131 (Q131*)

Ref Sequence

ENSEMBL: ENSMUSP00000073224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073532]

AlphaFold

A2AGW7

Predicted Effect

probably null
Transcript: ENSMUST00000073532
AA Change: Q131*

SMART Domains

Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: Q131*

Domain	Start	End	E-Value	Type
low complexity region	204	216	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	T	A	1: 63,808,344 (GRCm39)	R7S	unknown	Het
Acss3	A	T	10: 106,889,312 (GRCm39)	Y169*	probably null	Het
Anln	T	C	9: 22,283,483 (GRCm39)	K450R	possibly damaging	Het
Armc10	A	T	5: 21,865,631 (GRCm39)	R225S	probably benign	Het
Cbfb	T	A	8: 105,905,312 (GRCm39)	Y85N	probably damaging	Het
Col13a1	G	T	10: 61,697,804 (GRCm39)		probably benign	Het
Dclk2	T	C	3: 86,700,600 (GRCm39)	I626V	probably damaging	Het
Epb41	G	A	4: 131,731,065 (GRCm39)	T172M	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Glyat	A	T	19: 12,628,625 (GRCm39)	D140V	probably damaging	Het
Hikeshi	A	T	7: 89,585,130 (GRCm39)	F25I	probably damaging	Het
Ifi204	A	G	1: 173,576,880 (GRCm39)	Y574H	possibly damaging	Het
Kcnd3	C	T	3: 105,574,317 (GRCm39)	R501*	probably null	Het
Kdm4a	T	C	4: 118,034,662 (GRCm39)	E23G	probably damaging	Het
Map3k19	C	T	1: 127,751,983 (GRCm39)	S456N	probably damaging	Het
Mgat4c	A	G	10: 102,221,021 (GRCm39)		probably benign	Het
Nup214	A	G	2: 31,878,200 (GRCm39)	N289S	possibly damaging	Het
Obsl1	G	T	1: 75,474,793 (GRCm39)	A674D	possibly damaging	Het
Or1e25	A	T	11: 73,493,532 (GRCm39)	N42I	probably damaging	Het
Or51i1	A	T	7: 103,671,311 (GRCm39)		probably null	Het
Pak2	T	C	16: 31,862,820 (GRCm39)		probably null	Het
Pde4a	A	T	9: 21,103,865 (GRCm39)	N138I	possibly damaging	Het
Per1	A	G	11: 68,993,001 (GRCm39)	D286G	probably damaging	Het
Prdx2	T	A	8: 85,700,681 (GRCm39)	D188E	probably benign	Het
Ptgis	T	C	2: 167,048,657 (GRCm39)	K453R	probably damaging	Het
Radil	A	G	5: 142,492,218 (GRCm39)	V470A	probably benign	Het
Rgs12	A	G	5: 35,123,464 (GRCm39)	S416G	probably damaging	Het
Rnf213	A	G	11: 119,354,162 (GRCm39)	H4013R	probably benign	Het
Ttc17	A	G	2: 94,208,055 (GRCm39)	L185P	probably damaging	Het
Ttn	A	G	2: 76,542,768 (GRCm39)	I33406T	probably damaging	Het
Ube2e1	A	G	14: 18,331,062 (GRCm38)		probably benign	Het

Other mutations in Pramel23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Pramel23	APN	4	143,423,410 (GRCm39)	utr 3 prime	probably benign
IGL02087:Pramel23	APN	4	143,423,644 (GRCm39)	missense	probably damaging	0.96
IGL02902:Pramel23	APN	4	143,424,913 (GRCm39)	missense	probably damaging	1.00
IGL02903:Pramel23	APN	4	143,425,736 (GRCm39)	missense	probably benign	0.04
IGL02962:Pramel23	APN	4	143,423,910 (GRCm39)	missense	probably benign	0.28
IGL03351:Pramel23	APN	4	143,423,658 (GRCm39)	missense	possibly damaging	0.80
R0122:Pramel23	UTSW	4	143,424,974 (GRCm39)	missense	probably benign	0.44
R0533:Pramel23	UTSW	4	143,424,590 (GRCm39)	nonsense	probably null
R0609:Pramel23	UTSW	4	143,425,073 (GRCm39)	missense	probably benign	0.00
R0743:Pramel23	UTSW	4	143,425,134 (GRCm39)	missense	probably damaging	0.97
R0744:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R0833:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R1052:Pramel23	UTSW	4	143,423,477 (GRCm39)	missense	possibly damaging	0.81
R1690:Pramel23	UTSW	4	143,424,693 (GRCm39)	missense	probably benign	0.03
R1764:Pramel23	UTSW	4	143,424,840 (GRCm39)	missense	probably benign	0.14
R1896:Pramel23	UTSW	4	143,424,714 (GRCm39)	missense	probably benign	0.11
R2084:Pramel23	UTSW	4	143,425,920 (GRCm39)	missense	probably damaging	1.00
R2178:Pramel23	UTSW	4	143,424,612 (GRCm39)	missense	possibly damaging	0.95
R2888:Pramel23	UTSW	4	143,423,460 (GRCm39)	missense	probably benign	0.00
R3759:Pramel23	UTSW	4	143,423,721 (GRCm39)	missense	probably damaging	1.00
R4193:Pramel23	UTSW	4	143,424,903 (GRCm39)	missense	probably damaging	1.00
R4380:Pramel23	UTSW	4	143,424,856 (GRCm39)	missense	probably benign	0.21
R4385:Pramel23	UTSW	4	143,424,584 (GRCm39)	critical splice donor site	probably null
R4513:Pramel23	UTSW	4	143,424,718 (GRCm39)	missense	probably benign	0.00
R4647:Pramel23	UTSW	4	143,425,914 (GRCm39)	missense	probably benign	0.00
R4920:Pramel23	UTSW	4	143,425,853 (GRCm39)	missense	probably benign	0.05
R4994:Pramel23	UTSW	4	143,424,939 (GRCm39)	missense	possibly damaging	0.94
R5197:Pramel23	UTSW	4	143,424,632 (GRCm39)	missense	possibly damaging	0.86
R6005:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.00
R6073:Pramel23	UTSW	4	143,424,838 (GRCm39)	missense	probably damaging	0.99
R6197:Pramel23	UTSW	4	143,423,886 (GRCm39)	missense	possibly damaging	0.90
R6264:Pramel23	UTSW	4	143,425,722 (GRCm39)	missense	possibly damaging	0.50
R6821:Pramel23	UTSW	4	143,425,874 (GRCm39)	nonsense	probably null
R6923:Pramel23	UTSW	4	143,425,676 (GRCm39)	missense	probably benign	0.06
R7034:Pramel23	UTSW	4	143,423,898 (GRCm39)	missense	probably damaging	1.00
R7140:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.01
R7298:Pramel23	UTSW	4	143,425,075 (GRCm39)	missense	probably benign	0.23
R7529:Pramel23	UTSW	4	143,429,244 (GRCm39)
R7766:Pramel23	UTSW	4	143,425,809 (GRCm39)	missense	probably damaging	0.98
R7774:Pramel23	UTSW	4	143,423,676 (GRCm39)	missense	possibly damaging	0.89
R7816:Pramel23	UTSW	4	143,424,764 (GRCm39)	missense	probably benign	0.00
R8137:Pramel23	UTSW	4	143,425,835 (GRCm39)	missense	probably damaging	1.00
R8937:Pramel23	UTSW	4	143,423,562 (GRCm39)	missense	probably damaging	1.00
R8982:Pramel23	UTSW	4	143,424,886 (GRCm39)	missense	probably benign	0.01
R9016:Pramel23	UTSW	4	143,423,899 (GRCm39)	missense	possibly damaging	0.76
R9100:Pramel23	UTSW	4	143,425,727 (GRCm39)	missense	probably benign	0.04
R9200:Pramel23	UTSW	4	143,423,856 (GRCm39)	missense	possibly damaging	0.90
R9257:Pramel23	UTSW	4	143,425,685 (GRCm39)	missense	probably damaging	1.00
R9471:Pramel23	UTSW	4	143,423,749 (GRCm39)	missense	probably damaging	1.00
R9517:Pramel23	UTSW	4	143,424,930 (GRCm39)	missense	possibly damaging	0.95
Z1088:Pramel23	UTSW	4	143,424,650 (GRCm39)	missense	probably benign
Z1176:Pramel23	UTSW	4	143,423,515 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16