Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Pramel14'

183470

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 #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

143717697-143720939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143720924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 6 (P6S)

Ref Sequence

ENSEMBL: ENSMUSP00000101388 (fasta)

Gene Model

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

AlphaFold

A2ASJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000105762
AA Change: P6S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509
AA Change: P6S

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	C	7: 27,337,499 (GRCm39)	D417A	probably benign	Het
Ap1b1	T	A	11: 4,969,336 (GRCm39)	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,421,935 (GRCm39)	T1377I	probably damaging	Het
Cdkl3	A	G	11: 51,895,896 (GRCm39)	T48A	probably benign	Het
Chd3	T	C	11: 69,251,501 (GRCm39)	Y510C	probably damaging	Het
Chml	A	G	1: 175,515,751 (GRCm39)	S57P	probably damaging	Het
Cpxm1	G	T	2: 130,236,060 (GRCm39)	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,528,319 (GRCm39)	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,519,033 (GRCm39)	I325F	probably damaging	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,407,519 (GRCm39)	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481 (GRCm39)	I300V	probably benign	Het
Fam193a	A	G	5: 34,588,537 (GRCm39)	E76G	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Furin	A	G	7: 80,042,647 (GRCm39)	L380P	probably damaging	Het
Fxr2	A	C	11: 69,541,328 (GRCm39)	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,887,741 (GRCm39)	N756K	probably damaging	Het
Gimap1	A	G	6: 48,720,258 (GRCm39)	Y290C	probably damaging	Het
Gm5592	G	A	7: 40,935,795 (GRCm39)	W99*	probably null	Het
Hexd	G	T	11: 121,107,819 (GRCm39)	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,384,514 (GRCm39)	P95S	probably damaging	Het
Jhy	A	T	9: 40,806,842 (GRCm39)	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,901,267 (GRCm39)	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629 (GRCm39)	S76R	probably damaging	Het
Myom3	C	T	4: 135,513,160 (GRCm39)	R613*	probably null	Het
Naa16	T	A	14: 79,618,956 (GRCm39)	E172D	probably benign	Het
Obox6	A	T	7: 15,568,846 (GRCm39)	M10K	possibly damaging	Het
Or5al5	A	T	2: 85,961,174 (GRCm39)	Y278N	probably benign	Het
Pam	C	T	1: 97,762,166 (GRCm39)	V700M	probably damaging	Het
Phf8-ps	C	T	17: 33,286,628 (GRCm39)	G58E	probably damaging	Het
Pkd1l2	C	A	8: 117,743,655 (GRCm39)	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,593,791 (GRCm39)	T1441S	possibly damaging	Het
Plg	A	G	17: 12,621,934 (GRCm39)		probably benign	Het
Pot1a	A	G	6: 25,750,099 (GRCm39)	L521P	probably damaging	Het
Ptprj	A	T	2: 90,270,256 (GRCm39)	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,402,222 (GRCm39)	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,558,369 (GRCm39)	E1157K	possibly damaging	Het
Sell	G	A	1: 163,893,195 (GRCm39)	R137Q	probably benign	Het
Shisa9	A	T	16: 12,062,522 (GRCm39)	M248L	probably benign	Het
Spag17	A	G	3: 99,966,149 (GRCm39)	E1144G	probably benign	Het
Sphk2	G	T	7: 45,360,157 (GRCm39)	Q616K	probably benign	Het
Tecrl	T	C	5: 83,442,453 (GRCm39)	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,842 (GRCm39)	T1885A	probably benign	Het
Usp24	T	C	4: 106,232,965 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,927,350 (GRCm39)	M622T	probably benign	Het
Vangl1	A	G	3: 102,091,607 (GRCm39)	F160L	probably damaging	Het
Vps13d	T	C	4: 144,813,317 (GRCm39)	S3289G	probably damaging	Het
Wdfy4	A	G	14: 32,855,673 (GRCm39)	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,498,907 (GRCm39)	L509P	probably damaging	Het
Zcchc2	A	G	1: 105,955,229 (GRCm39)	E640G	probably damaging	Het
Zfp563	T	A	17: 33,324,383 (GRCm39)	I326N	probably benign	Het

Other mutations in Pramel14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Pramel14	APN	4	143,719,894 (GRCm39)	missense	probably benign	0.01
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

2014-05-07