Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Pramef25'

418426

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

Accession Numbers

Essential gene?

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

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143950197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 112 (K112N)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105766]

AlphaFold

A2ASI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000105766
AA Change: K112N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: K112N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	427	2e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in Pramef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramef25	APN	4	143950214	splice site	probably benign
IGL01562:Pramef25	APN	4	143950865	missense	probably damaging	1.00
IGL02422:Pramef25	APN	4	143949883	missense	probably benign	0.25
IGL02632:Pramef25	APN	4	143949937	missense	possibly damaging	0.84
IGL02745:Pramef25	APN	4	143950724	missense	probably damaging	1.00
IGL02808:Pramef25	APN	4	143951015	utr 5 prime	probably benign
IGL02883:Pramef25	APN	4	143949848	missense	possibly damaging	0.64
IGL02961:Pramef25	APN	4	143949147	missense	probably damaging	1.00
FR4340:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949757	frame shift	probably null
R0533:Pramef25	UTSW	4	143950720	missense	possibly damaging	0.85
R0606:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R1624:Pramef25	UTSW	4	143949830	missense	possibly damaging	0.47
R1898:Pramef25	UTSW	4	143950728	missense	probably damaging	1.00
R2029:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R2894:Pramef25	UTSW	4	143949122	missense	probably damaging	1.00
R4111:Pramef25	UTSW	4	143949905	missense	possibly damaging	0.93
R4298:Pramef25	UTSW	4	143949143	nonsense	probably null
R4360:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R4361:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R5137:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R5195:Pramef25	UTSW	4	143950880	missense	probably damaging	0.99
R5312:Pramef25	UTSW	4	143949095	missense	possibly damaging	0.96
R5548:Pramef25	UTSW	4	143949980	missense	probably benign	0.24
R5591:Pramef25	UTSW	4	143948807	missense	probably damaging	1.00
R5644:Pramef25	UTSW	4	143948804	missense	probably benign	0.01
R6018:Pramef25	UTSW	4	143950899	missense	possibly damaging	0.61
R6177:Pramef25	UTSW	4	143949006	missense	possibly damaging	0.51
R6335:Pramef25	UTSW	4	143949032	missense	probably benign	0.02
R6376:Pramef25	UTSW	4	143950697	missense	probably benign	0.03
R6572:Pramef25	UTSW	4	143949692	missense	probably benign	0.01
R6845:Pramef25	UTSW	4	143949824	missense	probably benign
R6939:Pramef25	UTSW	4	143948796	missense	probably benign	0.09
R7081:Pramef25	UTSW	4	143949278	missense	probably damaging	1.00
R7505:Pramef25	UTSW	4	143949703	missense	possibly damaging	0.94
R7711:Pramef25	UTSW	4	143949252	missense	probably benign	0.22
R8284:Pramef25	UTSW	4	143950125	missense	possibly damaging	0.95
R8297:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R8299:Pramef25	UTSW	4	143950757	missense	probably benign	0.24
R8700:Pramef25	UTSW	4	143949131	missense	possibly damaging	0.51
R9179:Pramef25	UTSW	4	143949724	missense	probably benign	0.01
R9199:Pramef25	UTSW	4	143949086	missense	probably damaging	1.00
R9214:Pramef25	UTSW	4	143949180	missense	probably benign	0.00
R9411:Pramef25	UTSW	4	143949645	missense	probably damaging	1.00
RF011:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF013:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF021:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
Z1176:Pramef25	UTSW	4	143950123	missense	probably benign	0.13

Posted On

2016-08-02