Incidental Mutation 'IGL03351:Pramel23'
ID 419695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel23
Ensembl Gene ENSMUSG00000070617
Gene Name PRAME like 23
Synonyms Gm13089
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03351
Quality Score
Status
Chromosome 4
Chromosomal Location 143423070-143429281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143423658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 377 (T377I)
Ref Sequence ENSEMBL: ENSMUSP00000073224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073532]
AlphaFold A2AGW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000073532
AA Change: T377I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: T377I

DomainStartEndE-ValueType
low complexity region 204 216 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,561,427 (GRCm39) D251E probably benign Het
5730460C07Rik C T 3: 153,495,595 (GRCm39) noncoding transcript Het
Coch G A 12: 51,649,989 (GRCm39) R326Q probably benign Het
Cpa3 A G 3: 20,270,126 (GRCm39) V366A probably benign Het
Csf1r C T 18: 61,250,180 (GRCm39) Q382* probably null Het
Csta1 C A 16: 35,951,411 (GRCm39) G4* probably null Het
Cts7 T C 13: 61,504,417 (GRCm39) R49G probably damaging Het
Dlg5 A G 14: 24,220,522 (GRCm39) V575A probably benign Het
Ero1a G T 14: 45,531,990 (GRCm39) N227K probably benign Het
Faap24 G T 7: 35,094,734 (GRCm39) C58* probably null Het
Hfm1 G A 5: 107,059,441 (GRCm39) Q194* probably null Het
Hs3st5 T A 10: 36,709,319 (GRCm39) Y285N probably damaging Het
Hyal6 G A 6: 24,743,428 (GRCm39) G375R probably damaging Het
Itgb5 T C 16: 33,730,922 (GRCm39) S93P probably benign Het
Kcnj6 A T 16: 94,633,442 (GRCm39) M205K probably damaging Het
Kdm6a C T X: 18,113,343 (GRCm39) Q92* probably null Het
Klhl38 A G 15: 58,186,726 (GRCm39) M1T probably null Het
Krtap7-1 T C 16: 89,304,884 (GRCm39) probably benign Het
L1cam T C X: 72,906,634 (GRCm39) T270A probably damaging Het
Lmod2 A G 6: 24,598,015 (GRCm39) N45S probably benign Het
Magea13 G A X: 57,964,297 (GRCm39) V19I probably benign Het
Mmp2 A G 8: 93,565,970 (GRCm39) I424V probably benign Het
Myh8 A G 11: 67,194,739 (GRCm39) Q1650R possibly damaging Het
Naalad2 T A 9: 18,275,483 (GRCm39) E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 (GRCm39) T74A probably benign Het
Npr2 G T 4: 43,640,652 (GRCm39) M368I probably benign Het
Nup58 T C 14: 60,466,224 (GRCm39) T445A probably benign Het
Or14a256 A G 7: 86,264,885 (GRCm39) Y323H possibly damaging Het
Or52r1b A G 7: 102,691,337 (GRCm39) D212G probably damaging Het
Pkp3 A G 7: 140,662,606 (GRCm39) T73A probably benign Het
Pole A G 5: 110,449,864 (GRCm39) probably benign Het
Ppp2r3d C T 9: 101,088,391 (GRCm39) G644D probably benign Het
Ptprb T C 10: 116,175,487 (GRCm39) Y1161H probably benign Het
Ptprs T A 17: 56,744,943 (GRCm39) K264N probably damaging Het
Rasal2 T C 1: 157,020,311 (GRCm39) probably benign Het
Serpina6 A T 12: 103,613,172 (GRCm39) I376N probably damaging Het
Setx T G 2: 29,051,811 (GRCm39) I2062M probably benign Het
Slc9c1 A G 16: 45,363,531 (GRCm39) D99G probably benign Het
Spata31h1 T C 10: 82,119,401 (GRCm39) probably benign Het
Taok1 A G 11: 77,451,154 (GRCm39) Y309H probably damaging Het
Trappc10 T C 10: 78,024,595 (GRCm39) D1178G probably damaging Het
Trav5-1 G A 14: 52,860,302 (GRCm39) E36K probably damaging Het
Vmn1r237 T C 17: 21,535,099 (GRCm39) V274A probably benign Het
Vmn1r29 A T 6: 58,284,735 (GRCm39) S152C probably damaging Het
Washc5 C A 15: 59,235,199 (GRCm39) probably benign Het
Zfp369 T G 13: 65,443,967 (GRCm39) L370R possibly damaging Het
Zfp750 T C 11: 121,404,173 (GRCm39) Y234C probably damaging Het
Other mutations in Pramel23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Pramel23 APN 4 143,423,410 (GRCm39) utr 3 prime probably benign
IGL02087:Pramel23 APN 4 143,423,644 (GRCm39) missense probably damaging 0.96
IGL02296:Pramel23 APN 4 143,425,051 (GRCm39) nonsense probably null
IGL02902:Pramel23 APN 4 143,424,913 (GRCm39) missense probably damaging 1.00
IGL02903:Pramel23 APN 4 143,425,736 (GRCm39) missense probably benign 0.04
IGL02962:Pramel23 APN 4 143,423,910 (GRCm39) missense probably benign 0.28
R0122:Pramel23 UTSW 4 143,424,974 (GRCm39) missense probably benign 0.44
R0533:Pramel23 UTSW 4 143,424,590 (GRCm39) nonsense probably null
R0609:Pramel23 UTSW 4 143,425,073 (GRCm39) missense probably benign 0.00
R0743:Pramel23 UTSW 4 143,425,134 (GRCm39) missense probably damaging 0.97
R0744:Pramel23 UTSW 4 143,425,056 (GRCm39) missense probably benign 0.19
R0833:Pramel23 UTSW 4 143,425,056 (GRCm39) missense probably benign 0.19
R1052:Pramel23 UTSW 4 143,423,477 (GRCm39) missense possibly damaging 0.81
R1690:Pramel23 UTSW 4 143,424,693 (GRCm39) missense probably benign 0.03
R1764:Pramel23 UTSW 4 143,424,840 (GRCm39) missense probably benign 0.14
R1896:Pramel23 UTSW 4 143,424,714 (GRCm39) missense probably benign 0.11
R2084:Pramel23 UTSW 4 143,425,920 (GRCm39) missense probably damaging 1.00
R2178:Pramel23 UTSW 4 143,424,612 (GRCm39) missense possibly damaging 0.95
R2888:Pramel23 UTSW 4 143,423,460 (GRCm39) missense probably benign 0.00
R3759:Pramel23 UTSW 4 143,423,721 (GRCm39) missense probably damaging 1.00
R4193:Pramel23 UTSW 4 143,424,903 (GRCm39) missense probably damaging 1.00
R4380:Pramel23 UTSW 4 143,424,856 (GRCm39) missense probably benign 0.21
R4385:Pramel23 UTSW 4 143,424,584 (GRCm39) critical splice donor site probably null
R4513:Pramel23 UTSW 4 143,424,718 (GRCm39) missense probably benign 0.00
R4647:Pramel23 UTSW 4 143,425,914 (GRCm39) missense probably benign 0.00
R4920:Pramel23 UTSW 4 143,425,853 (GRCm39) missense probably benign 0.05
R4994:Pramel23 UTSW 4 143,424,939 (GRCm39) missense possibly damaging 0.94
R5197:Pramel23 UTSW 4 143,424,632 (GRCm39) missense possibly damaging 0.86
R6005:Pramel23 UTSW 4 143,425,002 (GRCm39) missense probably benign 0.00
R6073:Pramel23 UTSW 4 143,424,838 (GRCm39) missense probably damaging 0.99
R6197:Pramel23 UTSW 4 143,423,886 (GRCm39) missense possibly damaging 0.90
R6264:Pramel23 UTSW 4 143,425,722 (GRCm39) missense possibly damaging 0.50
R6821:Pramel23 UTSW 4 143,425,874 (GRCm39) nonsense probably null
R6923:Pramel23 UTSW 4 143,425,676 (GRCm39) missense probably benign 0.06
R7034:Pramel23 UTSW 4 143,423,898 (GRCm39) missense probably damaging 1.00
R7140:Pramel23 UTSW 4 143,425,002 (GRCm39) missense probably benign 0.01
R7298:Pramel23 UTSW 4 143,425,075 (GRCm39) missense probably benign 0.23
R7529:Pramel23 UTSW 4 143,429,244 (GRCm39)
R7766:Pramel23 UTSW 4 143,425,809 (GRCm39) missense probably damaging 0.98
R7774:Pramel23 UTSW 4 143,423,676 (GRCm39) missense possibly damaging 0.89
R7816:Pramel23 UTSW 4 143,424,764 (GRCm39) missense probably benign 0.00
R8137:Pramel23 UTSW 4 143,425,835 (GRCm39) missense probably damaging 1.00
R8937:Pramel23 UTSW 4 143,423,562 (GRCm39) missense probably damaging 1.00
R8982:Pramel23 UTSW 4 143,424,886 (GRCm39) missense probably benign 0.01
R9016:Pramel23 UTSW 4 143,423,899 (GRCm39) missense possibly damaging 0.76
R9100:Pramel23 UTSW 4 143,425,727 (GRCm39) missense probably benign 0.04
R9200:Pramel23 UTSW 4 143,423,856 (GRCm39) missense possibly damaging 0.90
R9257:Pramel23 UTSW 4 143,425,685 (GRCm39) missense probably damaging 1.00
R9471:Pramel23 UTSW 4 143,423,749 (GRCm39) missense probably damaging 1.00
R9517:Pramel23 UTSW 4 143,424,930 (GRCm39) missense possibly damaging 0.95
Z1088:Pramel23 UTSW 4 143,424,650 (GRCm39) missense probably benign
Z1176:Pramel23 UTSW 4 143,423,515 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02