Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Pramel5'

73216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 144271162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]

AlphaFold

Q7TPY4

Predicted Effect

probably benign
Transcript: ENSMUST00000035757

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105752

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144127

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Pramel5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pramel5	APN	4	144271621	missense	probably damaging	1.00
IGL00990:Pramel5	APN	4	144273979	missense	probably damaging	1.00
IGL01070:Pramel5	APN	4	144271272	missense	probably damaging	1.00
IGL01653:Pramel5	APN	4	144273859	missense	probably benign	0.01
IGL02150:Pramel5	APN	4	144273201	missense	possibly damaging	0.93
IGL02278:Pramel5	APN	4	144271551	missense	probably damaging	1.00
IGL02671:Pramel5	APN	4	144273112	missense	probably benign	0.25
IGL02868:Pramel5	APN	4	144271352	missense	probably benign	0.03
IGL02981:Pramel5	APN	4	144272860	missense	probably benign	0.01
R0532:Pramel5	UTSW	4	144272740	missense	probably benign	0.03
R0646:Pramel5	UTSW	4	144271620	missense	probably damaging	1.00
R1328:Pramel5	UTSW	4	144271488	missense	probably damaging	1.00
R1902:Pramel5	UTSW	4	144273863	nonsense	probably null
R2027:Pramel5	UTSW	4	144271704	missense	probably damaging	1.00
R2240:Pramel5	UTSW	4	144272936	nonsense	probably null
R2439:Pramel5	UTSW	4	144273740	missense	probably benign	0.01
R3922:Pramel5	UTSW	4	144273052	missense	probably damaging	1.00
R4470:Pramel5	UTSW	4	144271345	missense	possibly damaging	0.89
R4808:Pramel5	UTSW	4	144272755	missense	probably benign	0.04
R4969:Pramel5	UTSW	4	144271617	missense	probably damaging	1.00
R5195:Pramel5	UTSW	4	144271741	missense	probably benign	0.01
R5198:Pramel5	UTSW	4	144273494	intron	probably benign
R5930:Pramel5	UTSW	4	144272983	missense	probably benign	0.43
R5988:Pramel5	UTSW	4	144273146	missense	possibly damaging	0.46
R6662:Pramel5	UTSW	4	144273105	missense	probably benign	0.32
R6988:Pramel5	UTSW	4	144274007	start gained	probably benign
R7116:Pramel5	UTSW	4	144273881	missense	possibly damaging	0.94
R7638:Pramel5	UTSW	4	144271440	missense	possibly damaging	0.93
R8247:Pramel5	UTSW	4	144272825	missense	probably damaging	1.00
R8993:Pramel5	UTSW	4	144272959	missense	possibly damaging	0.81
R9049:Pramel5	UTSW	4	144273916	missense	probably benign	0.02
R9402:Pramel5	UTSW	4	144271456	missense	probably benign	0.15
R9632:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
R9710:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
X0028:Pramel5	UTSW	4	144272836	missense	probably benign	0.00
Z1176:Pramel5	UTSW	4	144273860	missense	probably benign	0.00

Posted On

2013-10-07