Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02957:Pramel1'

365164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

preferentially expressed antigen in melanoma-like 1

Synonyms

Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

143394428-143400160 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143397598 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 281 (H281R)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037419]

Predicted Effect

probably benign
Transcript: ENSMUST00000037419
AA Change: H281R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: H281R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	203	396	1e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119019

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	G	T	9: 36,637,850	T38K	probably benign	Het
Abi2	A	G	1: 60,470,786	D262G	probably damaging	Het
Ahcyl1	G	T	3: 107,667,642	Q462K	probably damaging	Het
Btbd11	T	A	10: 85,633,837	M405K	probably damaging	Het
Btbd11	C	T	10: 85,631,286		probably benign	Het
C8b	A	G	4: 104,766,455	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,262,533	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,779,662	R373*	probably null	Het
Dnah10	A	G	5: 124,763,133	D1277G	probably benign	Het
Dnah2	A	T	11: 69,448,507	V3058E	possibly damaging	Het
Eif3l	T	C	15: 79,089,828	L481P	probably benign	Het
Fbxw7	A	T	3: 84,976,237	T573S	probably benign	Het
Fcgbp	C	A	7: 28,091,847	Y844*	probably null	Het
Fcrls	C	A	3: 87,262,194	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,930,653	S35R	probably benign	Het
Gm10767	A	T	13: 66,908,213		probably benign	Het
H2-M9	A	G	17: 36,642,157	L86S	probably benign	Het
Hebp1	C	T	6: 135,137,992	G157D	probably benign	Het
Igf2bp3	C	A	6: 49,087,404	V560L	probably benign	Het
Igsf10	A	G	3: 59,330,864	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,435,869	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,007,665	S502G	probably benign	Het
Lpcat2	T	A	8: 92,875,584	Y224*	probably null	Het
Mcrip2	A	G	17: 25,868,525	V24A	probably damaging	Het
Mttp	T	C	3: 138,109,081	K493E	possibly damaging	Het
Myl7	A	G	11: 5,897,137	S139P	possibly damaging	Het
Npepps	C	T	11: 97,242,652	R268H	probably damaging	Het
Oas1c	C	T	5: 120,805,413	W18*	probably null	Het
Olfr1328	G	T	4: 118,934,119	T241N	probably damaging	Het
P4ha3	T	C	7: 100,318,905		probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,512,908	W989R	probably damaging	Het
Podxl	A	G	6: 31,528,449		probably benign	Het
Pot1b	T	C	17: 55,700,009	Y36C	probably damaging	Het
Ppme1	A	T	7: 100,338,440	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,198,918	I108T	probably damaging	Het
Prep	T	C	10: 45,126,030	V427A	probably benign	Het
Prkce	A	G	17: 86,496,026	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,706,535		probably benign	Het
Rrm2	A	G	12: 24,708,441	N32S	probably damaging	Het
Sema6a	A	G	18: 47,249,224	L752P	probably damaging	Het
Sik3	T	A	9: 46,195,845	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,169,990	L336P	probably benign	Het
Stk32a	A	T	18: 43,311,992	M284L	probably benign	Het
Syde2	T	C	3: 145,989,179		probably benign	Het
Tcta	G	A	9: 108,305,332	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,654,410	T517S	probably damaging	Het
Trpv3	A	G	11: 73,285,872	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,274,810	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,802,225	T252M	probably benign	Het
Wdr27	A	T	17: 14,910,110		probably benign	Het
Yipf1	A	G	4: 107,336,150	T78A	probably damaging	Het
Zfp735	A	T	11: 73,710,929	Y233F	probably benign	Het

Other mutations in Pramel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Pramel1	APN	4	143397556	missense	probably damaging	1.00
IGL01363:Pramel1	APN	4	143397385	missense	probably benign	0.00
IGL01713:Pramel1	APN	4	143397082	missense	probably benign	0.01
IGL02334:Pramel1	APN	4	143397526	missense	probably damaging	0.98
P0045:Pramel1	UTSW	4	143398522	nonsense	probably null
PIT4431001:Pramel1	UTSW	4	143398390	missense	possibly damaging	0.61
R0136:Pramel1	UTSW	4	143397446	missense	probably damaging	1.00
R0544:Pramel1	UTSW	4	143397605	missense	possibly damaging	0.94
R0612:Pramel1	UTSW	4	143397531	missense	probably damaging	0.99
R1700:Pramel1	UTSW	4	143398429	missense	probably damaging	1.00
R2425:Pramel1	UTSW	4	143398466	missense	probably damaging	1.00
R2927:Pramel1	UTSW	4	143398818	missense	probably benign
R4012:Pramel1	UTSW	4	143396690	missense	possibly damaging	0.48
R5253:Pramel1	UTSW	4	143398586	missense	probably benign	0.03
R5388:Pramel1	UTSW	4	143397384	missense	probably benign	0.00
R6457:Pramel1	UTSW	4	143396705	missense	probably damaging	1.00
R7052:Pramel1	UTSW	4	143396504	missense	probably damaging	1.00
R7543:Pramel1	UTSW	4	143398423	missense	probably damaging	0.99

Posted On

2015-12-18