Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03089:Pramel24'

418263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel24

Ensembl Gene

ENSMUSG00000046435

Gene Name

PRAME like 24

Synonyms

Gm13078

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL03089

Quality Score

Status

Chromosome

Chromosomal Location

143446025-143455728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143452703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 45 (T45A)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078695]

AlphaFold

A2AGW8

Predicted Effect

probably benign
Transcript: ENSMUST00000078695
AA Change: T45A

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: T45A

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	4e-12	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	G	3: 95,584,556 (GRCm39)	S947P	probably damaging	Het
Agl	T	A	3: 116,574,672 (GRCm39)	H709L	probably damaging	Het
Alpi	T	A	1: 87,027,830 (GRCm39)	D250V	probably benign	Het
Anapc4	A	G	5: 53,023,740 (GRCm39)	S735G	probably benign	Het
Ank1	A	T	8: 23,594,848 (GRCm39)	I611L	probably benign	Het
Canx	A	G	11: 50,195,309 (GRCm39)	V253A	possibly damaging	Het
Cbfa2t3	A	T	8: 123,361,873 (GRCm39)	I383N	probably damaging	Het
Ccn3	C	T	15: 54,612,680 (GRCm39)	R230C	possibly damaging	Het
Cdc23	T	C	18: 34,767,513 (GRCm39)	Y519C	probably damaging	Het
Celsr3	T	A	9: 108,703,806 (GRCm39)	N96K	probably benign	Het
Clptm1	A	G	7: 19,371,072 (GRCm39)	Y355H	probably damaging	Het
Col6a5	C	T	9: 105,811,038 (GRCm39)	S827N	unknown	Het
Cyp21a1	G	T	17: 35,022,420 (GRCm39)		probably null	Het
Cyp24a1	T	G	2: 170,327,886 (GRCm39)	H452P	probably damaging	Het
Cyp2c39	T	A	19: 39,552,295 (GRCm39)	H329Q	probably benign	Het
D630003M21Rik	C	T	2: 158,058,664 (GRCm39)	R412Q	probably benign	Het
Dennd1b	G	A	1: 139,029,767 (GRCm39)	R308Q	possibly damaging	Het
Deup1	T	C	9: 15,519,096 (GRCm39)	S137G	possibly damaging	Het
Dmbt1	T	A	7: 130,712,778 (GRCm39)	I1583N	probably damaging	Het
Dvl1	G	A	4: 155,939,609 (GRCm39)	V320M	probably damaging	Het
Elmod3	A	G	6: 72,546,299 (GRCm39)	S254P	probably damaging	Het
Emsy	G	A	7: 98,286,473 (GRCm39)	Q226*	probably null	Het
Ephb6	C	A	6: 41,591,108 (GRCm39)	D88E	probably damaging	Het
Exoc1	A	G	5: 76,690,005 (GRCm39)	M182V	possibly damaging	Het
Fbxw4	T	G	19: 45,580,160 (GRCm39)		probably benign	Het
Fgr	A	G	4: 132,713,577 (GRCm39)	D35G	probably damaging	Het
Gm20547	A	T	17: 35,080,008 (GRCm39)	D366E	probably damaging	Het
Gucy1a1	T	C	3: 82,004,988 (GRCm39)	N599S	probably damaging	Het
Ighg2b	G	A	12: 113,270,298 (GRCm39)	P240L	probably damaging	Het
Jak3	A	G	8: 72,138,727 (GRCm39)	D975G	probably benign	Het
Klhl26	A	T	8: 70,908,283 (GRCm39)	N24K	probably benign	Het
Letm1	T	A	5: 33,918,202 (GRCm39)	E314D	probably damaging	Het
Lin54	A	T	5: 100,598,852 (GRCm39)	F319L	probably damaging	Het
Lrp5	A	T	19: 3,670,314 (GRCm39)		probably null	Het
Lvrn	T	C	18: 47,013,776 (GRCm39)	F486S	probably damaging	Het
Or1e19	T	C	11: 73,316,009 (GRCm39)	T267A	probably benign	Het
Or2h1b	A	G	17: 37,462,534 (GRCm39)	C110R	probably damaging	Het
Or4c113	T	C	2: 88,885,357 (GRCm39)	R138G	probably benign	Het
Or51m1	A	C	7: 103,578,329 (GRCm39)	I100L	probably benign	Het
Or8g54	A	T	9: 39,706,977 (GRCm39)	Y102F	probably benign	Het
Sap30bp	T	A	11: 115,848,214 (GRCm39)	M112K	possibly damaging	Het
Sbno1	A	G	5: 124,525,374 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,950,338 (GRCm39)	I307V	probably benign	Het
Trim37	T	A	11: 87,080,963 (GRCm39)	D21E	probably damaging	Het
Usp34	T	C	11: 23,396,958 (GRCm39)	F614S	possibly damaging	Het
Usp39	A	C	6: 72,305,622 (GRCm39)	F387C	probably damaging	Het
Vipas39	C	T	12: 87,300,028 (GRCm39)	C149Y	probably damaging	Het
Vmn2r107	C	A	17: 20,595,974 (GRCm39)	H842Q	probably benign	Het
Vps18	T	A	2: 119,123,658 (GRCm39)	V195E	probably benign	Het
Vsx1	A	G	2: 150,527,510 (GRCm39)		probably benign	Het

Other mutations in Pramel24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Pramel24	APN	4	143,453,585 (GRCm39)	missense	probably damaging	1.00
IGL01122:Pramel24	APN	4	143,454,971 (GRCm39)	missense	probably benign	0.13
IGL02314:Pramel24	APN	4	143,455,012 (GRCm39)	missense	probably benign	0.00
IGL03338:Pramel24	APN	4	143,453,312 (GRCm39)	missense	probably benign	0.01
R0233:Pramel24	UTSW	4	143,452,633 (GRCm39)	missense	possibly damaging	0.71
R0233:Pramel24	UTSW	4	143,452,633 (GRCm39)	missense	possibly damaging	0.71
R0349:Pramel24	UTSW	4	143,453,629 (GRCm39)	missense	probably benign	0.00
R0681:Pramel24	UTSW	4	143,454,622 (GRCm39)	missense	probably benign
R0963:Pramel24	UTSW	4	143,453,678 (GRCm39)	missense	possibly damaging	0.50
R1114:Pramel24	UTSW	4	143,453,425 (GRCm39)	missense	probably benign	0.01
R2070:Pramel24	UTSW	4	143,453,472 (GRCm39)	nonsense	probably null
R2475:Pramel24	UTSW	4	143,453,395 (GRCm39)	missense	probably benign	0.14
R3824:Pramel24	UTSW	4	143,453,255 (GRCm39)	missense	probably benign	0.00
R4050:Pramel24	UTSW	4	143,453,692 (GRCm39)	missense	probably benign	0.01
R4125:Pramel24	UTSW	4	143,452,850 (GRCm39)	nonsense	probably null
R4273:Pramel24	UTSW	4	143,453,416 (GRCm39)	nonsense	probably null
R4280:Pramel24	UTSW	4	143,452,592 (GRCm39)	missense	possibly damaging	0.94
R4921:Pramel24	UTSW	4	143,454,896 (GRCm39)	missense	possibly damaging	0.95
R5223:Pramel24	UTSW	4	143,454,591 (GRCm39)	missense	probably benign	0.00
R7256:Pramel24	UTSW	4	143,452,849 (GRCm39)	missense	probably benign	0.23
R7640:Pramel24	UTSW	4	143,453,276 (GRCm39)	missense	probably benign	0.00
R7666:Pramel24	UTSW	4	143,455,085 (GRCm39)	missense	probably benign	0.00
R7683:Pramel24	UTSW	4	143,453,284 (GRCm39)	nonsense	probably null
R7981:Pramel24	UTSW	4	143,453,452 (GRCm39)	missense	probably benign	0.01
R8856:Pramel24	UTSW	4	143,453,303 (GRCm39)	missense	probably benign	0.33
R9050:Pramel24	UTSW	4	143,453,329 (GRCm39)	missense	probably benign	0.03
R9739:Pramel24	UTSW	4	143,454,997 (GRCm39)	missense	possibly damaging	0.94
R9757:Pramel24	UTSW	4	143,454,992 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel24	UTSW	4	143,453,603 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02