Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00952:Pramel14'

27290

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 #

IGL00952

Quality Score

Status

Chromosome

Chromosomal Location

143717697-143720939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143719894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 157 (H157R)

Ref Sequence

ENSEMBL: ENSMUSP00000101388 (fasta)

Gene Model

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

AlphaFold

A2ASJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000105762
AA Change: H157R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509
AA Change: H157R

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	G	6: 40,941,733 (GRCm39)	I4S	probably benign	Het
Abca8b	A	G	11: 109,859,886 (GRCm39)		probably null	Het
Aftph	A	T	11: 20,677,483 (GRCm39)	V42E	probably damaging	Het
AI467606	A	G	7: 126,691,874 (GRCm39)	S150G	probably damaging	Het
Art4	T	C	6: 136,831,818 (GRCm39)	N108D	possibly damaging	Het
B9d1	G	A	11: 61,403,504 (GRCm39)	V167I	possibly damaging	Het
Ccdc47	A	T	11: 106,094,358 (GRCm39)		probably null	Het
Ccdc96	T	A	5: 36,642,424 (GRCm39)		probably benign	Het
Cfap44	A	G	16: 44,241,638 (GRCm39)	I670V	probably benign	Het
Col18a1	T	G	10: 76,905,813 (GRCm39)	K909Q	possibly damaging	Het
Col8a2	A	G	4: 126,203,584 (GRCm39)	Y59C	probably damaging	Het
Coro6	A	T	11: 77,359,291 (GRCm39)	D288V	probably damaging	Het
Cul4a	C	T	8: 13,196,562 (GRCm39)	L739F	probably damaging	Het
Dmxl2	C	T	9: 54,324,166 (GRCm39)	V1073I	probably damaging	Het
Dnah11	T	C	12: 118,160,386 (GRCm39)	T115A	possibly damaging	Het
Fdx2	A	G	9: 20,984,558 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,459,546 (GRCm39)	Q2549*	probably null	Het
Foxn2	T	C	17: 88,783,308 (GRCm39)	C188R	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ilf3	T	C	9: 21,307,347 (GRCm39)	L343P	probably damaging	Het
Itgb2l	C	T	16: 96,227,950 (GRCm39)	G518S	probably damaging	Het
Itpr2	T	A	6: 146,060,459 (GRCm39)	I2486F	probably damaging	Het
Kat2a	A	G	11: 100,596,977 (GRCm39)	V681A	probably damaging	Het
Kif17	A	G	4: 137,990,019 (GRCm39)	N69S	possibly damaging	Het
Kif26b	G	A	1: 178,759,770 (GRCm39)	D2106N	probably damaging	Het
Klf6	A	G	13: 5,911,680 (GRCm39)	T15A	probably benign	Het
Lyst	A	G	13: 13,852,692 (GRCm39)	T2231A	probably benign	Het
Mark4	T	C	7: 19,165,749 (GRCm39)	T515A	possibly damaging	Het
Mast3	A	T	8: 71,233,327 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,586,201 (GRCm39)	K722R	probably benign	Het
Ncf2	G	A	1: 152,711,857 (GRCm39)	E524K	probably benign	Het
Or56a3b	A	G	7: 104,771,614 (GRCm39)		probably null	Het
Or5p81	A	G	7: 108,267,445 (GRCm39)	N274S	possibly damaging	Het
Or5w12	A	T	2: 87,502,159 (GRCm39)	I184N	probably damaging	Het
Or8c17	A	T	9: 38,179,801 (GRCm39)		probably benign	Het
Plcg2	A	T	8: 118,333,956 (GRCm39)	M910L	probably benign	Het
Rai1	A	T	11: 60,078,818 (GRCm39)	K961*	probably null	Het
Rsph14	T	C	10: 74,865,601 (GRCm39)	D112G	probably benign	Het
Sgo1	T	A	17: 53,994,275 (GRCm39)	D59V	probably damaging	Het
Slc22a29	A	T	19: 8,195,221 (GRCm39)	V138E	probably damaging	Het
Slc9a1	T	A	4: 133,143,693 (GRCm39)	V393D	probably damaging	Het
Smg6	A	G	11: 74,819,974 (GRCm39)	R82G	probably benign	Het
Sppl3	T	C	5: 115,212,935 (GRCm39)	S55P	probably benign	Het
Srsf12	A	C	4: 33,226,103 (GRCm39)	Q122P	possibly damaging	Het
Tas1r2	T	C	4: 139,382,563 (GRCm39)	M67T	probably benign	Het
Thnsl1	G	A	2: 21,216,767 (GRCm39)	V174I	possibly damaging	Het
Thumpd1	A	G	7: 119,316,232 (GRCm39)	V239A	possibly damaging	Het
Tnxb	T	G	17: 34,932,102 (GRCm39)	Y2212D	probably damaging	Het
Trim40	T	C	17: 37,193,289 (GRCm39)	*213W	probably null	Het
Ttc16	T	C	2: 32,660,259 (GRCm39)	D183G	probably damaging	Het

Other mutations in Pramel14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02806:Pramel14	APN	4	143,719,501 (GRCm39)	splice site	probably null
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

2013-04-17