Incidental Mutation 'IGL03338:Pramef12'
ID417106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramef12
Ensembl Gene ENSMUSG00000028591
Gene NamePRAME family member 12
Synonyms4930569K13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03338
Quality Score
Status
Chromosome4
Chromosomal Location144391674-144408464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144394827 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 209 (Y209F)
Ref Sequence ENSEMBL: ENSMUSP00000030326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030326] [ENSMUST00000123854]
Predicted Effect probably benign
Transcript: ENSMUST00000030326
AA Change: Y209F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: Y209F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 414 7e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123854
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,694,153 V260M probably damaging Het
Accsl T A 2: 93,855,747 H575L probably benign Het
Armc3 A T 2: 19,248,701 I218F possibly damaging Het
Bora C A 14: 99,072,742 N502K probably damaging Het
Brd4 T A 17: 32,213,072 D606V probably damaging Het
Ccdc190 T A 1: 169,929,975 M1K probably null Het
Ccl25 T C 8: 4,349,898 probably benign Het
Cep78 G T 19: 15,959,623 T573K probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 C T 6: 106,655,589 H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 E101G probably benign Het
Dnah2 A G 11: 69,496,577 V941A probably benign Het
Exoc6b A G 6: 84,844,130 I559T probably damaging Het
Fmr1 T C X: 68,688,336 probably null Het
Ghr A T 15: 3,347,542 C66S probably damaging Het
Gm13078 T C 4: 143,726,742 I140T probably benign Het
Gm13101 T C 4: 143,965,841 I197V probably benign Het
Gm13101 T A 4: 143,966,038 Q131L probably benign Het
Hook1 C A 4: 95,998,692 probably benign Het
Igsf1 T C X: 49,787,499 T73A probably benign Het
Ipo8 T C 6: 148,800,257 K451R probably benign Het
Irs1 A G 1: 82,288,401 V698A probably benign Het
Kat2a T C 11: 100,711,475 D151G probably benign Het
Lyrm1 A T 7: 119,914,246 Q78L probably benign Het
Madd C T 2: 91,162,162 G1012E possibly damaging Het
Mboat1 T A 13: 30,136,759 D31E probably benign Het
Myh8 C A 11: 67,298,346 A1116D probably damaging Het
Nop2 G A 6: 125,139,732 probably null Het
Notch1 A G 2: 26,459,959 S2390P probably benign Het
Olfr1122 T G 2: 87,388,126 N140K probably benign Het
Olfr619 T A 7: 103,604,408 C251* probably null Het
Olfr792 A G 10: 129,541,056 D173G probably damaging Het
Pigg T C 5: 108,319,950 S272P probably damaging Het
Plg A G 17: 12,419,072 Y795C probably damaging Het
Polr3e A G 7: 120,937,620 K335R probably benign Het
Prdm4 A T 10: 85,907,821 M190K possibly damaging Het
Prex2 T A 1: 11,140,265 F597L probably benign Het
Ranbp3l A G 15: 9,060,859 E403G probably damaging Het
Rgmb C T 17: 15,807,303 A385T possibly damaging Het
Scn4a T A 11: 106,320,845 I1449F probably damaging Het
Slc17a9 T C 2: 180,740,518 probably benign Het
Slc26a2 T C 18: 61,198,902 I486V probably damaging Het
Sntn A T 14: 13,678,991 D55V probably damaging Het
Snx25 T A 8: 46,045,210 R595S probably benign Het
Spag11b C T 8: 19,141,410 T33I probably damaging Het
Sval2 A G 6: 41,864,247 I81M probably damaging Het
Tab2 A G 10: 7,919,275 V481A probably damaging Het
Zfp867 G A 11: 59,464,177 Q109* probably null Het
Zfp935 T C 13: 62,454,433 T318A probably benign Het
Other mutations in Pramef12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramef12 APN 4 144394740 missense possibly damaging 0.91
IGL01107:Pramef12 APN 4 144393094 missense probably benign 0.00
IGL01935:Pramef12 APN 4 144392602 unclassified probably benign
IGL02436:Pramef12 APN 4 144392969 missense possibly damaging 0.95
IGL02491:Pramef12 APN 4 144394752 missense probably damaging 1.00
IGL02744:Pramef12 APN 4 144392923 missense probably damaging 1.00
R0005:Pramef12 UTSW 4 144395853 missense probably damaging 1.00
R1401:Pramef12 UTSW 4 144395088 missense probably benign 0.00
R1611:Pramef12 UTSW 4 144392812 missense probably benign 0.20
R1667:Pramef12 UTSW 4 144393036 nonsense probably null
R2017:Pramef12 UTSW 4 144394674 missense possibly damaging 0.49
R2290:Pramef12 UTSW 4 144394699 missense probably benign 0.00
R2290:Pramef12 UTSW 4 144395122 missense probably benign 0.19
R2310:Pramef12 UTSW 4 144392905 unclassified probably null
R2912:Pramef12 UTSW 4 144392734 missense probably damaging 1.00
R2913:Pramef12 UTSW 4 144392734 missense probably damaging 1.00
R4558:Pramef12 UTSW 4 144395972 start codon destroyed probably null 1.00
R5162:Pramef12 UTSW 4 144394912 missense probably damaging 0.96
R5521:Pramef12 UTSW 4 144395971 start codon destroyed probably null 1.00
R5530:Pramef12 UTSW 4 144392662 missense probably benign 0.03
R5669:Pramef12 UTSW 4 144395843 missense probably benign 0.03
R6032:Pramef12 UTSW 4 144393028 missense possibly damaging 0.82
R6032:Pramef12 UTSW 4 144393028 missense possibly damaging 0.82
R6314:Pramef12 UTSW 4 144394587 missense probably damaging 0.98
R6322:Pramef12 UTSW 4 144392905 missense probably benign 0.09
R6431:Pramef12 UTSW 4 144393083 missense possibly damaging 0.83
R7729:Pramef12 UTSW 4 144392864 missense probably damaging 1.00
Posted On2016-08-02