Incidental Mutation 'IGL02868:Pramel5'
ID362395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel5
Ensembl Gene ENSMUSG00000036749
Gene Namepreferentially expressed antigen in melanoma like 5
SynonymsOTTMUSG00000010540
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02868
Quality Score
Status
Chromosome4
Chromosomal Location144270633-144280488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 144271352 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 440 (N440K)
Ref Sequence ENSEMBL: ENSMUSP00000101378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]
Predicted Effect probably benign
Transcript: ENSMUST00000035757
AA Change: N440K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: N440K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105752
AA Change: N440K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: N440K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144127
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap4 A G X: 73,900,402 I224T probably benign Het
Atp12a A G 14: 56,384,182 D758G probably damaging Het
Clca3b C A 3: 144,827,564 G569V probably damaging Het
Dlgap4 G A 2: 156,700,896 R73Q probably damaging Het
Efcc1 C T 6: 87,751,761 probably benign Het
Eno3 T A 11: 70,662,000 V369E probably damaging Het
Espl1 T A 15: 102,313,990 C1022* probably null Het
Gm884 A T 11: 103,615,139 L2001H probably benign Het
Grhl3 T C 4: 135,554,604 D319G probably damaging Het
Huwe1 G A X: 151,908,833 R2538H possibly damaging Het
Ms4a4d T A 19: 11,550,282 I51N probably damaging Het
Mtmr9 T C 14: 63,524,139 N522S probably benign Het
Nfe2l1 A G 11: 96,820,140 I133T probably damaging Het
Ninl A G 2: 150,937,054 Y1296H probably benign Het
Nipal3 A G 4: 135,466,871 S284P probably damaging Het
Olfr1009 A T 2: 85,721,575 T57S probably benign Het
Olfr1286 A T 2: 111,420,493 F153I possibly damaging Het
Rabep1 T C 11: 70,874,746 V12A probably benign Het
Rbm5 G T 9: 107,749,700 probably benign Het
Ric3 T C 7: 109,054,419 E155G probably damaging Het
Slc12a7 T A 13: 73,806,388 M897K probably benign Het
Slc39a8 G T 3: 135,856,026 A169S probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Synrg G A 11: 83,987,050 probably benign Het
Tas2r107 T C 6: 131,659,286 T267A probably benign Het
Tead3 G T 17: 28,333,095 Y354* probably null Het
Trim3 T C 7: 105,613,032 K579R possibly damaging Het
Uaca A T 9: 60,863,637 K362M probably damaging Het
Vmn2r94 A G 17: 18,244,054 I658T possibly damaging Het
Vps13b C T 15: 35,884,519 P3113S probably benign Het
Zfp251 A G 15: 76,854,534 S115P probably damaging Het
Zfp683 G A 4: 134,055,866 V214M probably benign Het
Other mutations in Pramel5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Pramel5 APN 4 144271621 missense probably damaging 1.00
IGL00990:Pramel5 APN 4 144273979 missense probably damaging 1.00
IGL01070:Pramel5 APN 4 144271272 missense probably damaging 1.00
IGL01298:Pramel5 APN 4 144271162 utr 3 prime probably benign
IGL01653:Pramel5 APN 4 144273859 missense probably benign 0.01
IGL02150:Pramel5 APN 4 144273201 missense possibly damaging 0.93
IGL02278:Pramel5 APN 4 144271551 missense probably damaging 1.00
IGL02671:Pramel5 APN 4 144273112 missense probably benign 0.25
IGL02981:Pramel5 APN 4 144272860 missense probably benign 0.01
R0532:Pramel5 UTSW 4 144272740 missense probably benign 0.03
R0646:Pramel5 UTSW 4 144271620 missense probably damaging 1.00
R1328:Pramel5 UTSW 4 144271488 missense probably damaging 1.00
R1902:Pramel5 UTSW 4 144273863 nonsense probably null
R2027:Pramel5 UTSW 4 144271704 missense probably damaging 1.00
R2240:Pramel5 UTSW 4 144272936 nonsense probably null
R2439:Pramel5 UTSW 4 144273740 missense probably benign 0.01
R3922:Pramel5 UTSW 4 144273052 missense probably damaging 1.00
R4470:Pramel5 UTSW 4 144271345 missense possibly damaging 0.89
R4808:Pramel5 UTSW 4 144272755 missense probably benign 0.04
R4969:Pramel5 UTSW 4 144271617 missense probably damaging 1.00
R5195:Pramel5 UTSW 4 144271741 missense probably benign 0.01
R5198:Pramel5 UTSW 4 144273494 intron probably benign
R5930:Pramel5 UTSW 4 144272983 missense probably benign 0.43
R5988:Pramel5 UTSW 4 144273146 missense possibly damaging 0.46
R6662:Pramel5 UTSW 4 144273105 missense probably benign 0.32
R6988:Pramel5 UTSW 4 144274007 start gained probably benign
R7116:Pramel5 UTSW 4 144273881 missense possibly damaging 0.94
R7638:Pramel5 UTSW 4 144271440 missense possibly damaging 0.93
R8247:Pramel5 UTSW 4 144272825 missense probably damaging 1.00
X0028:Pramel5 UTSW 4 144272836 missense probably benign 0.00
Z1176:Pramel5 UTSW 4 144273860 missense probably benign 0.00
Posted On2015-12-18