Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Pramef25'

603322

Institutional Source

Beutler Lab

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 143948908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 449 (Q449H)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

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

AlphaFold

A2ASI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000105766
AA Change: Q449H

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: Q449H

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	Het

Other mutations in Pramef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramef25	APN	4	143,950,214 (GRCm38)	splice site	probably benign
IGL01562:Pramef25	APN	4	143,950,865 (GRCm38)	missense	probably damaging	1.00
IGL02422:Pramef25	APN	4	143,949,883 (GRCm38)	missense	probably benign	0.25
IGL02632:Pramef25	APN	4	143,949,937 (GRCm38)	missense	possibly damaging	0.84
IGL02745:Pramef25	APN	4	143,950,724 (GRCm38)	missense	probably damaging	1.00
IGL02808:Pramef25	APN	4	143,951,015 (GRCm38)	utr 5 prime	probably benign
IGL02883:Pramef25	APN	4	143,949,848 (GRCm38)	missense	possibly damaging	0.64
IGL02961:Pramef25	APN	4	143,949,147 (GRCm38)	missense	probably damaging	1.00
IGL03092:Pramef25	APN	4	143,950,197 (GRCm38)	missense	probably damaging	0.97
FR4340:Pramef25	UTSW	4	143,949,742 (GRCm38)	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143,949,757 (GRCm38)	frame shift	probably null
FR4342:Pramef25	UTSW	4	143,949,742 (GRCm38)	missense	probably damaging	0.99
R0533:Pramef25	UTSW	4	143,950,720 (GRCm38)	missense	possibly damaging	0.85
R0606:Pramef25	UTSW	4	143,949,883 (GRCm38)	missense	probably benign	0.25
R1624:Pramef25	UTSW	4	143,949,830 (GRCm38)	missense	possibly damaging	0.47
R1898:Pramef25	UTSW	4	143,950,728 (GRCm38)	missense	probably damaging	1.00
R2029:Pramef25	UTSW	4	143,949,883 (GRCm38)	missense	probably benign	0.25
R2867:Pramef25	UTSW	4	143,948,886 (GRCm38)	missense	probably benign	0.00
R2867:Pramef25	UTSW	4	143,948,886 (GRCm38)	missense	probably benign	0.00
R2894:Pramef25	UTSW	4	143,949,122 (GRCm38)	missense	probably damaging	1.00
R4111:Pramef25	UTSW	4	143,949,905 (GRCm38)	missense	possibly damaging	0.93
R4298:Pramef25	UTSW	4	143,949,143 (GRCm38)	nonsense	probably null
R4360:Pramef25	UTSW	4	143,950,863 (GRCm38)	missense	possibly damaging	0.81
R4361:Pramef25	UTSW	4	143,950,863 (GRCm38)	missense	possibly damaging	0.81
R5137:Pramef25	UTSW	4	143,949,120 (GRCm38)	missense	probably benign	0.08
R5195:Pramef25	UTSW	4	143,950,880 (GRCm38)	missense	probably damaging	0.99
R5312:Pramef25	UTSW	4	143,949,095 (GRCm38)	missense	possibly damaging	0.96
R5548:Pramef25	UTSW	4	143,949,980 (GRCm38)	missense	probably benign	0.24
R5591:Pramef25	UTSW	4	143,948,807 (GRCm38)	missense	probably damaging	1.00
R5644:Pramef25	UTSW	4	143,948,804 (GRCm38)	missense	probably benign	0.01
R6018:Pramef25	UTSW	4	143,950,899 (GRCm38)	missense	possibly damaging	0.61
R6177:Pramef25	UTSW	4	143,949,006 (GRCm38)	missense	possibly damaging	0.51
R6335:Pramef25	UTSW	4	143,949,032 (GRCm38)	missense	probably benign	0.02
R6376:Pramef25	UTSW	4	143,950,697 (GRCm38)	missense	probably benign	0.03
R6572:Pramef25	UTSW	4	143,949,692 (GRCm38)	missense	probably benign	0.01
R6845:Pramef25	UTSW	4	143,949,824 (GRCm38)	missense	probably benign
R6939:Pramef25	UTSW	4	143,948,796 (GRCm38)	missense	probably benign	0.09
R7081:Pramef25	UTSW	4	143,949,278 (GRCm38)	missense	probably damaging	1.00
R7505:Pramef25	UTSW	4	143,949,703 (GRCm38)	missense	possibly damaging	0.94
R7711:Pramef25	UTSW	4	143,949,252 (GRCm38)	missense	probably benign	0.22
R8284:Pramef25	UTSW	4	143,950,125 (GRCm38)	missense	possibly damaging	0.95
R8297:Pramef25	UTSW	4	143,949,120 (GRCm38)	missense	probably benign	0.08
R8299:Pramef25	UTSW	4	143,950,757 (GRCm38)	missense	probably benign	0.24
R8700:Pramef25	UTSW	4	143,949,131 (GRCm38)	missense	possibly damaging	0.51
R9179:Pramef25	UTSW	4	143,949,724 (GRCm38)	missense	probably benign	0.01
R9199:Pramef25	UTSW	4	143,949,086 (GRCm38)	missense	probably damaging	1.00
R9214:Pramef25	UTSW	4	143,949,180 (GRCm38)	missense	probably benign	0.00
R9411:Pramef25	UTSW	4	143,949,645 (GRCm38)	missense	probably damaging	1.00
RF011:Pramef25	UTSW	4	143,948,908 (GRCm38)	missense	probably damaging	0.96
RF021:Pramef25	UTSW	4	143,948,908 (GRCm38)	missense	probably damaging	0.96
Z1176:Pramef25	UTSW	4	143,950,123 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GTGTTCAGGAACCCCTTGATC -3'
(R):5'- CCTGCCCTGAATAAGTGCTCTC -3'

Sequencing Primer
(F):5'- GGAACCCCTTGATCATAGACTTG -3'
(R):5'- ATAAGTGCTCTCAGCTCATCGAGG -3'

Posted On

2019-12-04