Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Pramel24'

27341

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: 0.132) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

143719455-143729158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143727015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 231 (M231K)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

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

AlphaFold

A2AGW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000078695
AA Change: M231K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: M231K

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 103,183,262 (GRCm38)		probably benign	Het
Aldob	C	A	4: 49,541,220 (GRCm38)	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,355,645 (GRCm38)	M298I	probably benign	Het
Capn3	A	G	2: 120,491,901 (GRCm38)	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,797,500 (GRCm38)	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,933,740 (GRCm38)	H137L	probably benign	Het
Clhc1	G	A	11: 29,561,389 (GRCm38)	D278N	probably benign	Het
Cntnap3	T	C	13: 64,794,352 (GRCm38)	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,278,138 (GRCm38)	V2466G	probably damaging	Het
Dnah8	A	G	17: 30,851,710 (GRCm38)	T4457A	probably damaging	Het
Hectd4	A	G	5: 121,349,106 (GRCm38)	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,318,972 (GRCm38)	D316V	probably damaging	Het
Il1rap	T	C	16: 26,698,839 (GRCm38)	V263A	probably benign	Het
Il6	G	A	5: 30,014,841 (GRCm38)	G72S	probably benign	Het
Katnal2	T	C	18: 77,017,493 (GRCm38)	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,144,398 (GRCm38)	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,522,317 (GRCm38)		probably null	Het
Nphs1	T	G	7: 30,460,685 (GRCm38)	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,450,953 (GRCm38)	V444I	probably benign	Het
Numbl	T	C	7: 27,268,810 (GRCm38)	V144A	possibly damaging	Het
Or8g33	T	A	9: 39,426,657 (GRCm38)	Y138F	probably benign	Het
P2rx1	T	C	11: 73,013,000 (GRCm38)		probably null	Het
Pcdhb3	G	A	18: 37,302,948 (GRCm38)	V656I	probably benign	Het
Pole	A	G	5: 110,323,572 (GRCm38)	Y1394C	probably benign	Het
Rbm47	A	G	5: 66,026,738 (GRCm38)	V174A	possibly damaging	Het
Rhox4f	T	C	X: 37,604,395 (GRCm38)		probably benign	Het
Serpina12	T	C	12: 104,032,528 (GRCm38)	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,979,304 (GRCm38)	I236N	probably damaging	Het
Slc4a4	G	A	5: 88,954,798 (GRCm38)	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,807,182 (GRCm38)		probably null	Het
Sorcs3	A	T	19: 48,767,103 (GRCm38)	N894I	probably damaging	Het
Stk38l	A	G	6: 146,775,402 (GRCm38)	E393G	probably benign	Het
Synpo	A	G	18: 60,603,419 (GRCm38)	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,256,841 (GRCm38)	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,684,895 (GRCm38)		probably benign	Het
Unc13d	T	C	11: 116,070,467 (GRCm38)	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,593,204 (GRCm38)	N567Y	probably damaging	Het

Other mutations in Pramel24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Pramel24	APN	4	143,728,401 (GRCm38)	missense	probably benign	0.13
IGL02314:Pramel24	APN	4	143,728,442 (GRCm38)	missense	probably benign	0.00
IGL03089:Pramel24	APN	4	143,726,133 (GRCm38)	missense	probably benign	0.43
IGL03338:Pramel24	APN	4	143,726,742 (GRCm38)	missense	probably benign	0.01
R0233:Pramel24	UTSW	4	143,726,063 (GRCm38)	missense	possibly damaging	0.71
R0233:Pramel24	UTSW	4	143,726,063 (GRCm38)	missense	possibly damaging	0.71
R0349:Pramel24	UTSW	4	143,727,059 (GRCm38)	missense	probably benign	0.00
R0681:Pramel24	UTSW	4	143,728,052 (GRCm38)	missense	probably benign
R0963:Pramel24	UTSW	4	143,727,108 (GRCm38)	missense	possibly damaging	0.50
R1114:Pramel24	UTSW	4	143,726,855 (GRCm38)	missense	probably benign	0.01
R2070:Pramel24	UTSW	4	143,726,902 (GRCm38)	nonsense	probably null
R2475:Pramel24	UTSW	4	143,726,825 (GRCm38)	missense	probably benign	0.14
R3824:Pramel24	UTSW	4	143,726,685 (GRCm38)	missense	probably benign	0.00
R4050:Pramel24	UTSW	4	143,727,122 (GRCm38)	missense	probably benign	0.01
R4125:Pramel24	UTSW	4	143,726,280 (GRCm38)	nonsense	probably null
R4273:Pramel24	UTSW	4	143,726,846 (GRCm38)	nonsense	probably null
R4280:Pramel24	UTSW	4	143,726,022 (GRCm38)	missense	possibly damaging	0.94
R4921:Pramel24	UTSW	4	143,728,326 (GRCm38)	missense	possibly damaging	0.95
R5223:Pramel24	UTSW	4	143,728,021 (GRCm38)	missense	probably benign	0.00
R7256:Pramel24	UTSW	4	143,726,279 (GRCm38)	missense	probably benign	0.23
R7640:Pramel24	UTSW	4	143,726,706 (GRCm38)	missense	probably benign	0.00
R7666:Pramel24	UTSW	4	143,728,515 (GRCm38)	missense	probably benign	0.00
R7683:Pramel24	UTSW	4	143,726,714 (GRCm38)	nonsense	probably null
R7981:Pramel24	UTSW	4	143,726,882 (GRCm38)	missense	probably benign	0.01
R8856:Pramel24	UTSW	4	143,726,733 (GRCm38)	missense	probably benign	0.33
R9050:Pramel24	UTSW	4	143,726,759 (GRCm38)	missense	probably benign	0.03
R9739:Pramel24	UTSW	4	143,728,427 (GRCm38)	missense	possibly damaging	0.94
R9757:Pramel24	UTSW	4	143,728,422 (GRCm38)	missense	probably benign	0.00
Z1088:Pramel24	UTSW	4	143,727,033 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-04-17