Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Pramel11'

567302

Institutional Source

Beutler Lab

Gene Symbol

Pramel11

Ensembl Gene

ENSMUSG00000078512

Gene Name

PRAME like 11

Synonyms

Gm13099, Pramef6

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143620807-143626950 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 143623345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 276 (Y276*)

Ref Sequence

ENSEMBL: ENSMUSP00000101393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000105767]

AlphaFold

A2A8M8

Predicted Effect

probably null
Transcript: ENSMUST00000081645
AA Change: Y276*

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: Y276*

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	6e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105767
AA Change: Y276*

SMART Domains

Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: Y276*

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	1e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,259 (GRCm39)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,899 (GRCm39)	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949 (GRCm39)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 79,865,016 (GRCm39)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
B4galnt3	T	C	6: 120,192,392 (GRCm39)	D448G	probably benign	Het
Capn1	C	G	19: 6,043,938 (GRCm39)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,349,384 (GRCm39)	S474P	probably benign	Het
Cdk12	T	A	11: 98,140,626 (GRCm39)	L1289*	probably null	Het
Cramp1	A	T	17: 25,193,719 (GRCm39)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,345,143 (GRCm39)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,273,960 (GRCm39)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,396,983 (GRCm39)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,381,601 (GRCm39)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,040,976 (GRCm39)	I932S	probably benign	Het
Frk	T	A	10: 34,467,934 (GRCm39)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,109,349 (GRCm39)	R25C	unknown	Het
Gpat2	T	A	2: 127,276,810 (GRCm39)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,229,672 (GRCm39)	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142 (GRCm39)	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,314,833 (GRCm39)	S69N	probably damaging	Het
Hid1	A	C	11: 115,239,308 (GRCm39)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,233,093 (GRCm39)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,527,085 (GRCm39)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,554,851 (GRCm39)	R649Q	probably benign	Het
Kif17	A	T	4: 137,989,954 (GRCm39)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,279,896 (GRCm39)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,747,299 (GRCm39)	S3342T	unknown	Het
Krt82	A	G	15: 101,451,342 (GRCm39)	C356R	probably damaging	Het
Lrit2	A	G	14: 36,794,156 (GRCm39)	K407E	probably benign	Het
Malt1	T	A	18: 65,584,640 (GRCm39)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 100,125,108 (GRCm39)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,791,103 (GRCm39)		probably null	Het
Mindy2	T	G	9: 70,518,241 (GRCm39)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,020,953 (GRCm39)	E480G	probably benign	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Or13a26	G	A	7: 140,285,060 (GRCm39)	V299I	probably benign	Het
Or1j4	G	A	2: 36,740,137 (GRCm39)	M26I	probably benign	Het
Or4g7	A	T	2: 111,309,105 (GRCm39)		probably benign	Het
Or52a20	G	T	7: 103,366,173 (GRCm39)	R124L	probably damaging	Het
Pcdhb6	A	T	18: 37,468,531 (GRCm39)	H484L	probably benign	Het
Phldb1	T	C	9: 44,605,344 (GRCm39)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 71,961,790 (GRCm39)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,638,118 (GRCm39)		probably null	Het
Polr3a	A	G	14: 24,510,055 (GRCm39)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Pramel51	A	C	12: 88,148,519 (GRCm39)	C32W	probably damaging	Het
Psmc4	A	G	7: 27,742,085 (GRCm39)	V303A	probably benign	Het
Ptdss2	A	G	7: 140,731,645 (GRCm39)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,465,004 (GRCm39)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,324,283 (GRCm39)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,331,993 (GRCm39)	Y183*	probably null	Het
Rnd1	T	C	15: 98,568,680 (GRCm39)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,464,953 (GRCm39)	C282S	probably damaging	Het
S100b	G	A	10: 76,092,926 (GRCm39)	G20R	probably benign	Het
Sae1	G	T	7: 16,102,469 (GRCm39)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm39)	G1554*	probably null	Het
Samhd1	T	C	2: 156,976,940 (GRCm39)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,421,512 (GRCm39)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,710,986 (GRCm39)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,024,151 (GRCm39)	N67K	probably benign	Het
Smarca4	T	A	9: 21,550,096 (GRCm39)	I402N	probably damaging	Het
St7l	T	C	3: 104,796,669 (GRCm39)	F261L	probably benign	Het
Syde2	T	A	3: 145,721,553 (GRCm39)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,494,788 (GRCm39)	I251N	probably damaging	Het
Taok2	T	C	7: 126,465,990 (GRCm39)	E916G	probably damaging	Het
Tecta	A	G	9: 42,289,288 (GRCm39)	S426P	probably damaging	Het
Thra	T	C	11: 98,655,134 (GRCm39)	I338T	probably damaging	Het
Trub1	A	T	19: 57,461,135 (GRCm39)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,691 (GRCm39)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,567,981 (GRCm39)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,301,682 (GRCm39)	Y100H	probably damaging	Het

Other mutations in Pramel11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Pramel11	APN	4	143,622,201 (GRCm39)	missense	probably benign
IGL01917:Pramel11	APN	4	143,624,284 (GRCm39)	missense	probably benign	0.15
IGL02222:Pramel11	APN	4	143,622,416 (GRCm39)	missense	possibly damaging	0.94
IGL02315:Pramel11	APN	4	143,624,498 (GRCm39)	start gained	probably benign
R0488:Pramel11	UTSW	4	143,621,973 (GRCm39)	missense	probably benign	0.00
R0755:Pramel11	UTSW	4	143,624,299 (GRCm39)	missense	probably damaging	0.96
R0972:Pramel11	UTSW	4	143,623,533 (GRCm39)	missense	probably benign	0.02
R1444:Pramel11	UTSW	4	143,623,461 (GRCm39)	missense	probably benign	0.01
R1551:Pramel11	UTSW	4	143,622,263 (GRCm39)	missense	probably benign	0.00
R1907:Pramel11	UTSW	4	143,622,061 (GRCm39)	missense	possibly damaging	0.89
R2068:Pramel11	UTSW	4	143,623,482 (GRCm39)	missense	probably damaging	1.00
R2182:Pramel11	UTSW	4	143,623,760 (GRCm39)	missense	possibly damaging	0.60
R2246:Pramel11	UTSW	4	143,623,790 (GRCm39)	missense	probably benign	0.19
R4483:Pramel11	UTSW	4	143,622,410 (GRCm39)	missense	probably damaging	1.00
R5123:Pramel11	UTSW	4	143,623,706 (GRCm39)	missense	probably benign	0.00
R5291:Pramel11	UTSW	4	143,622,237 (GRCm39)	missense	probably damaging	1.00
R5643:Pramel11	UTSW	4	143,622,337 (GRCm39)	missense	probably damaging	0.98
R5683:Pramel11	UTSW	4	143,622,423 (GRCm39)	missense	probably damaging	1.00
R5836:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5837:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5838:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R5853:Pramel11	UTSW	4	143,623,490 (GRCm39)	missense	probably benign	0.30
R6340:Pramel11	UTSW	4	143,623,877 (GRCm39)	missense	possibly damaging	0.69
R6572:Pramel11	UTSW	4	143,621,943 (GRCm39)	missense	possibly damaging	0.79
R6791:Pramel11	UTSW	4	143,622,252 (GRCm39)	missense	probably benign	0.02
R6972:Pramel11	UTSW	4	143,623,472 (GRCm39)	missense	probably damaging	1.00
R7265:Pramel11	UTSW	4	143,621,991 (GRCm39)	missense	probably benign	0.00
R7342:Pramel11	UTSW	4	143,623,520 (GRCm39)	missense	probably benign	0.26
R7361:Pramel11	UTSW	4	143,622,456 (GRCm39)	missense	possibly damaging	0.88
R7480:Pramel11	UTSW	4	143,622,065 (GRCm39)	missense	probably benign
R7685:Pramel11	UTSW	4	143,624,371 (GRCm39)	missense	probably benign	0.28
R7861:Pramel11	UTSW	4	143,624,288 (GRCm39)	missense	possibly damaging	0.75
R8699:Pramel11	UTSW	4	143,623,762 (GRCm39)	missense	probably benign	0.31
R8981:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9100:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9101:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9103:Pramel11	UTSW	4	143,624,381 (GRCm39)	missense	probably damaging	1.00
R9112:Pramel11	UTSW	4	143,623,334 (GRCm39)	missense	possibly damaging	0.77
R9198:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9202:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9203:Pramel11	UTSW	4	143,623,646 (GRCm39)	missense	probably benign	0.25
R9473:Pramel11	UTSW	4	143,620,815 (GRCm39)	missense	probably benign	0.00
R9646:Pramel11	UTSW	4	143,623,634 (GRCm39)	missense	probably damaging	1.00
Z1176:Pramel11	UTSW	4	143,622,254 (GRCm39)	missense	probably damaging	1.00
Z1177:Pramel11	UTSW	4	143,623,769 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GGCACATACATGACAGTCTGG -3'
(R):5'- ATACCCTTGCATCACTAGCC -3'

Sequencing Primer
(F):5'- GCACATACATGACAGTCTGGTTTTAC -3'
(R):5'- TGCATCACTAGCCCCTGG -3'

Posted On

2019-06-26