Mutagenetix > Incidental Mutation

Incidental Mutation 'R4111:Pramef25'

317299

Institutional Source

Beutler Lab

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4111 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143949905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 210 (I210F)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

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

AlphaFold

A2ASI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105766
AA Change: I210F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: I210F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot10	A	T	15: 20,666,526	L43Q	probably damaging	Het
Alms1	G	A	6: 85,620,888	V1368I	probably benign	Het
Ambra1	T	C	2: 91,900,558	S894P	probably damaging	Het
Arhgef12	C	A	9: 42,972,274	G1320C	probably damaging	Het
Atg7	G	C	6: 114,713,294	G596R	probably damaging	Het
AY761184	T	C	8: 21,702,663	T106A	possibly damaging	Het
Birc6	T	C	17: 74,566,015	V423A	probably damaging	Het
Cdh17	T	C	4: 11,814,628	S728P	probably damaging	Het
Ctu2	G	A	8: 122,476,517	R24Q	possibly damaging	Het
Dclk3	T	C	9: 111,469,080	I564T	probably damaging	Het
Ddx39b	T	A	17: 35,243,364	I42N	possibly damaging	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dzip1	T	A	14: 118,877,233	K837*	probably null	Het
Epha1	G	A	6: 42,358,838	T955M	possibly damaging	Het
Etfbkmt	T	C	6: 149,144,591		probably benign	Het
Etfrf1	T	C	6: 145,215,372	Y23H	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gm12355	A	T	11: 98,625,397	V50D	probably damaging	Het
Gm5611	T	A	9: 17,030,693		noncoding transcript	Het
Gpr37l1	T	C	1: 135,167,270	T79A	possibly damaging	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,561,418	Y234F	probably damaging	Het
Ifnar1	C	A	16: 91,496,158	P230T	probably damaging	Het
Impact	T	C	18: 12,976,033		probably null	Het
Kcna6	G	C	6: 126,739,774	R51G	probably damaging	Het
Lrpprc	G	A	17: 84,726,338	T1037M	probably benign	Het
Olfr1239	C	A	2: 89,418,100	L104F	probably benign	Het
Olfr1440	T	C	19: 12,394,301	F13L	probably damaging	Het
Olfr430	T	A	1: 174,069,433	I45N	probably damaging	Het
Olfr979	C	A	9: 40,000,898	E110*	probably null	Het
Pask	A	G	1: 93,310,818	V1315A	probably damaging	Het
Prl7a2	A	T	13: 27,665,067	Y80N	possibly damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Rtn2	T	C	7: 19,286,844	S81P	probably damaging	Het
Sbf2	G	A	7: 110,428,242	P470S	probably damaging	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Sox30	A	G	11: 46,017,214	Y736C	probably benign	Het
Synj2	G	A	17: 6,007,965	G243S	probably benign	Het
Tbr1	C	T	2: 61,811,732	P184L	probably benign	Het
Tns1	T	C	1: 73,941,932	N1091S	probably damaging	Het
Trappc10	A	G	10: 78,196,430	F1008S	probably benign	Het
Ube4a	T	A	9: 44,948,949	I272F	probably damaging	Het
Uhrf1bp1	T	A	17: 27,886,090	L586*	probably null	Het
Vmn1r122	A	T	7: 21,133,513	S206T	probably damaging	Het
Vmn2r1	A	C	3: 64,089,755	K277N	probably benign	Het
Vps13a	T	C	19: 16,640,628	E2931G	probably damaging	Het
Wdr70	G	T	15: 7,976,991	Q360K	probably benign	Het
Wdr90	G	T	17: 25,849,368	Q1329K	possibly damaging	Het
Wrn	T	C	8: 33,352,155	N37S	probably benign	Het
Yap1	A	T	9: 7,938,431	*358K	probably null	Het
Zfp964	T	A	8: 69,664,104	S450R	probably benign	Het
Zkscan2	T	C	7: 123,482,684		probably benign	Het
Zmynd10	A	T	9: 107,549,052	K133*	probably null	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
IGL03092:Pramef25	APN	4	143950197	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTTGAGATGCTGGAGAC -3'
(R):5'- TAGATATGCACTGAGGCGACG -3'

Sequencing Primer
(F):5'- CTGAGAAATGAACTTGGTGACACTC -3'
(R):5'- CGACGTTTAAAGGTGGTCACTGAC -3'

Posted On

2015-05-15