Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02433:Pramel22'

293193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel22

Ensembl Gene

ENSMUSG00000078513

Gene Name

PRAME like 22

Synonyms

Gm13088

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02433

Quality Score

Status

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143382007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 230 (G230S)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105771]

AlphaFold

A2AGW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105771
AA Change: G230S

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: G230S

Domain	Start	End	E-Value	Type
low complexity region	188	202	N/A	INTRINSIC
low complexity region	372	391	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bche	T	C	3: 73,609,262 (GRCm39)	T55A	probably benign	Het
Ccdc177	T	C	12: 80,804,372 (GRCm39)	D634G	unknown	Het
Cnot2	T	C	10: 116,328,241 (GRCm39)	T498A	possibly damaging	Het
Dock10	C	T	1: 80,507,905 (GRCm39)	V1669M	probably damaging	Het
Emilin2	T	C	17: 71,581,124 (GRCm39)	E534G	probably benign	Het
Flt4	G	A	11: 49,521,400 (GRCm39)	R440H	probably benign	Het
Gm10073	T	C	8: 107,299,951 (GRCm39)	Y11C	probably benign	Het
Ighv10-3	T	A	12: 114,487,514 (GRCm39)		probably benign	Het
Krt31	T	C	11: 99,939,221 (GRCm39)	Y232C	probably damaging	Het
Muc19	G	A	15: 91,756,694 (GRCm39)		noncoding transcript	Het
Myof	A	G	19: 37,960,641 (GRCm39)	S467P	probably benign	Het
Nup88	C	T	11: 70,860,714 (GRCm39)	V22I	probably benign	Het
Or4f14	G	T	2: 111,742,762 (GRCm39)	P171Q	probably damaging	Het
Or6c6c	A	T	10: 129,541,445 (GRCm39)	T233S	probably benign	Het
Or8h9	A	G	2: 86,789,392 (GRCm39)	S137P	possibly damaging	Het
Prag1	C	T	8: 36,606,722 (GRCm39)	P821L	probably damaging	Het
Tap2	G	A	17: 34,424,393 (GRCm39)		probably benign	Het
Tmem68	A	T	4: 3,569,624 (GRCm39)	I22N	possibly damaging	Het
Usp17le	A	G	7: 104,418,408 (GRCm39)	W245R	probably benign	Het
Xpo5	G	T	17: 46,550,446 (GRCm39)	C976F	probably damaging	Het
Xrcc1	T	C	7: 24,264,979 (GRCm39)	S94P	possibly damaging	Het
Zfp524	T	A	7: 5,021,091 (GRCm39)	N206K	possibly damaging	Het

Other mutations in Pramel22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01418:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01551:Pramel22	APN	4	143,383,042 (GRCm39)	missense	probably damaging	0.99
IGL02016:Pramel22	APN	4	143,381,889 (GRCm39)	missense	possibly damaging	0.52
IGL02157:Pramel22	APN	4	143,380,947 (GRCm39)	missense	probably damaging	1.00
IGL02726:Pramel22	APN	4	143,381,955 (GRCm39)	missense	probably damaging	1.00
IGL02900:Pramel22	APN	4	143,382,085 (GRCm39)	missense	possibly damaging	0.59
IGL03367:Pramel22	APN	4	143,382,193 (GRCm39)	missense	possibly damaging	0.46
IGL02835:Pramel22	UTSW	4	143,380,817 (GRCm39)	missense	probably damaging	1.00
R0141:Pramel22	UTSW	4	143,381,138 (GRCm39)	missense	probably benign	0.01
R0166:Pramel22	UTSW	4	143,381,081 (GRCm39)	missense	probably benign	0.00
R0197:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0365:Pramel22	UTSW	4	143,382,071 (GRCm39)	nonsense	probably null
R0427:Pramel22	UTSW	4	143,380,993 (GRCm39)	missense	probably benign	0.00
R0701:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0927:Pramel22	UTSW	4	143,380,790 (GRCm39)	missense	possibly damaging	0.84
R1103:Pramel22	UTSW	4	143,381,942 (GRCm39)	missense	probably damaging	1.00
R1163:Pramel22	UTSW	4	143,383,204 (GRCm39)	missense	probably damaging	1.00
R1565:Pramel22	UTSW	4	143,382,187 (GRCm39)	nonsense	probably null
R1588:Pramel22	UTSW	4	143,382,121 (GRCm39)	missense	probably damaging	1.00
R1669:Pramel22	UTSW	4	143,380,916 (GRCm39)	missense	possibly damaging	0.53
R1925:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R1929:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R1990:Pramel22	UTSW	4	143,380,838 (GRCm39)	missense	probably damaging	1.00
R2272:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R2845:Pramel22	UTSW	4	143,380,868 (GRCm39)	missense	probably damaging	0.99
R3819:Pramel22	UTSW	4	143,382,365 (GRCm39)	missense	probably benign	0.02
R4660:Pramel22	UTSW	4	143,380,847 (GRCm39)	missense	probably benign	0.01
R4857:Pramel22	UTSW	4	143,383,158 (GRCm39)	missense	possibly damaging	0.65
R4888:Pramel22	UTSW	4	143,380,971 (GRCm39)	missense	probably benign	0.33
R5004:Pramel22	UTSW	4	143,380,706 (GRCm39)	missense	probably benign
R5242:Pramel22	UTSW	4	143,382,181 (GRCm39)	missense	probably benign	0.38
R5246:Pramel22	UTSW	4	143,382,127 (GRCm39)	missense	probably benign	0.00
R5596:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R5735:Pramel22	UTSW	4	143,381,205 (GRCm39)	missense	probably damaging	1.00
R5841:Pramel22	UTSW	4	143,382,109 (GRCm39)	missense	possibly damaging	0.95
R5982:Pramel22	UTSW	4	143,381,034 (GRCm39)	missense	probably damaging	0.99
R6052:Pramel22	UTSW	4	143,382,222 (GRCm39)	missense	probably damaging	1.00
R6169:Pramel22	UTSW	4	143,380,685 (GRCm39)	missense	probably benign	0.04
R6403:Pramel22	UTSW	4	143,382,343 (GRCm39)	nonsense	probably null
R6584:Pramel22	UTSW	4	143,382,040 (GRCm39)	missense	possibly damaging	0.74
R6898:Pramel22	UTSW	4	143,382,053 (GRCm39)	missense	probably damaging	1.00
R7438:Pramel22	UTSW	4	143,382,130 (GRCm39)	missense	probably damaging	0.96
R7563:Pramel22	UTSW	4	143,380,675 (GRCm39)	nonsense	probably null
R7674:Pramel22	UTSW	4	143,382,175 (GRCm39)	nonsense	probably null
R7792:Pramel22	UTSW	4	143,381,123 (GRCm39)	missense	probably benign	0.00
R7796:Pramel22	UTSW	4	143,380,727 (GRCm39)	missense	possibly damaging	0.57
R7915:Pramel22	UTSW	4	143,382,315 (GRCm39)	missense	possibly damaging	0.94
R7921:Pramel22	UTSW	4	143,383,135 (GRCm39)	missense	probably damaging	0.97
R8213:Pramel22	UTSW	4	143,380,755 (GRCm39)	missense	probably benign	0.00
R8419:Pramel22	UTSW	4	143,382,997 (GRCm39)	missense	probably damaging	0.99
R8813:Pramel22	UTSW	4	143,380,913 (GRCm39)	missense	probably damaging	1.00
R8844:Pramel22	UTSW	4	143,380,976 (GRCm39)	missense	probably damaging	0.99
R8893:Pramel22	UTSW	4	143,382,060 (GRCm39)	missense	probably damaging	1.00
R9098:Pramel22	UTSW	4	143,381,097 (GRCm39)	missense	probably benign	0.01
R9185:Pramel22	UTSW	4	143,381,898 (GRCm39)	missense	probably benign	0.03
R9422:Pramel22	UTSW	4	143,382,982 (GRCm39)	missense	probably damaging	1.00
X0021:Pramel22	UTSW	4	143,382,318 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16