Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Pramel14'

360446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel14

Ensembl Gene

ENSMUSG00000078509

Gene Name

PRAME like 14

Synonyms

Gm13107, Pramef17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

143717697-143720939 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 143719501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105762]

AlphaFold

A2ASJ1

Predicted Effect

probably null
Transcript: ENSMUST00000105762

SMART Domains

Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509

Domain	Start	End	E-Value	Type
low complexity region	188	200	N/A	INTRINSIC
SCOP:d1a4ya_	205	408	5e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Duox2	T	C	2: 122,115,147 (GRCm39)	H1110R	probably damaging	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hnrnpab	A	G	11: 51,496,305 (GRCm39)	S126P	probably benign	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lhx4	G	A	1: 155,577,975 (GRCm39)	P389L	probably benign	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nek1	G	A	8: 61,497,120 (GRCm39)	M389I	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Oxsr1	T	C	9: 119,070,260 (GRCm39)	D511G	possibly damaging	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	probably benign	Het

Other mutations in Pramel14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Pramel14	APN	4	143,719,894 (GRCm39)	missense	probably benign	0.01
IGL01981:Pramel14	APN	4	143,720,924 (GRCm39)	missense	probably damaging	1.00
IGL02322:Pramel14	APN	4	143,718,591 (GRCm39)	splice site	probably benign
IGL02514:Pramel14	APN	4	143,719,772 (GRCm39)	missense	probably benign	0.12
IGL02888:Pramel14	APN	4	143,720,669 (GRCm39)	missense	probably benign	0.42
IGL03032:Pramel14	APN	4	143,719,815 (GRCm39)	missense	probably damaging	1.00
R0269:Pramel14	UTSW	4	143,720,088 (GRCm39)	splice site	probably benign
R0363:Pramel14	UTSW	4	143,718,221 (GRCm39)	missense	probably benign	0.01
R0617:Pramel14	UTSW	4	143,720,088 (GRCm39)	splice site	probably benign
R1456:Pramel14	UTSW	4	143,719,851 (GRCm39)	missense	probably benign
R1475:Pramel14	UTSW	4	143,720,882 (GRCm39)	missense	probably benign	0.00
R1724:Pramel14	UTSW	4	143,720,002 (GRCm39)	missense	probably benign	0.00
R2158:Pramel14	UTSW	4	143,720,885 (GRCm39)	missense	possibly damaging	0.65
R2210:Pramel14	UTSW	4	143,720,789 (GRCm39)	missense	probably benign
R3834:Pramel14	UTSW	4	143,720,796 (GRCm39)	missense	probably benign	0.01
R4438:Pramel14	UTSW	4	143,718,192 (GRCm39)	missense	probably damaging	1.00
R5152:Pramel14	UTSW	4	143,720,830 (GRCm39)	missense	probably damaging	0.97
R5832:Pramel14	UTSW	4	143,718,532 (GRCm39)	missense	probably damaging	0.98
R6809:Pramel14	UTSW	4	143,719,651 (GRCm39)	missense	probably benign	0.01
R6986:Pramel14	UTSW	4	143,719,888 (GRCm39)	missense	probably damaging	0.99
R7072:Pramel14	UTSW	4	143,720,698 (GRCm39)	missense	probably damaging	0.97
R7144:Pramel14	UTSW	4	143,718,103 (GRCm39)	missense	probably benign	0.43
R7268:Pramel14	UTSW	4	143,720,090 (GRCm39)	splice site	probably null
R7737:Pramel14	UTSW	4	143,718,526 (GRCm39)	missense	possibly damaging	0.89
R8048:Pramel14	UTSW	4	143,718,177 (GRCm39)	missense	probably benign	0.04
R8074:Pramel14	UTSW	4	143,718,424 (GRCm39)	missense	probably benign	0.00
R8342:Pramel14	UTSW	4	143,720,809 (GRCm39)	missense	probably benign
R8855:Pramel14	UTSW	4	143,720,905 (GRCm39)	missense	probably damaging	0.97
R9105:Pramel14	UTSW	4	143,718,595 (GRCm39)	splice site	probably benign
R9490:Pramel14	UTSW	4	143,719,606 (GRCm39)	missense	probably benign	0.01
R9633:Pramel14	UTSW	4	143,720,818 (GRCm39)	missense	possibly damaging	0.78
R9671:Pramel14	UTSW	4	143,719,687 (GRCm39)	missense	probably benign	0.16
R9685:Pramel14	UTSW	4	143,719,520 (GRCm39)	missense	probably benign	0.03

Posted On

2015-12-18