Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01418:Pramel22'

278473

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 #

IGL01418

Quality Score

Status

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143381887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 270 (F270I)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

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

AlphaFold

A2AGW6

Predicted Effect

probably benign
Transcript: ENSMUST00000105771
AA Change: F270I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: F270I

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,655 (GRCm39)	H190L	probably benign	Het
Apoo-ps	T	A	13: 107,551,032 (GRCm39)		noncoding transcript	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ceacam5	G	A	7: 17,479,524 (GRCm39)	A214T	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Ctcfl	T	C	2: 172,960,124 (GRCm39)	E153G	probably benign	Het
Cubn	C	T	2: 13,288,852 (GRCm39)	V3374I	probably benign	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dnah11	C	T	12: 117,951,217 (GRCm39)	W1126*	probably null	Het
E130311K13Rik	A	C	3: 63,827,683 (GRCm39)	L141R	possibly damaging	Het
Ercc5	A	G	1: 44,206,440 (GRCm39)	K451R	probably benign	Het
Fbxo34	T	A	14: 47,768,241 (GRCm39)	C585S	possibly damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Itpr1	T	A	6: 108,316,585 (GRCm39)		probably null	Het
Lactb	T	C	9: 66,875,045 (GRCm39)	D349G	possibly damaging	Het
Lrp2	C	T	2: 69,355,630 (GRCm39)	V405I	probably benign	Het
Map1b	A	T	13: 99,568,338 (GRCm39)	I1461K	unknown	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Nek5	A	C	8: 22,585,285 (GRCm39)	I364S	probably damaging	Het
Nr2c1	A	T	10: 94,026,552 (GRCm39)	M476L	probably damaging	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or1d2	T	C	11: 74,255,810 (GRCm39)	V105A	possibly damaging	Het
Or4k42	T	C	2: 111,319,984 (GRCm39)	E173G	probably benign	Het
Or5w19	T	C	2: 87,698,809 (GRCm39)	V158A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Phf10	C	A	17: 15,165,396 (GRCm39)	V487L	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Slc5a8	G	T	10: 88,740,895 (GRCm39)	C270F	probably damaging	Het
Slfn8	T	C	11: 82,895,462 (GRCm39)	D448G	probably damaging	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Zfp507	T	A	7: 35,493,237 (GRCm39)		probably null	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
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
IGL02433:Pramel22	APN	4	143,382,007 (GRCm39)	missense	possibly damaging	0.92
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