Incidental Mutation 'IGL03380:Pramel7'
ID 420647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel7
Ensembl Gene ENSMUSG00000025839
Gene Name PRAME like 7
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL03380
Quality Score
Status
Chromosome 2
Chromosomal Location 87319432-87322762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87321716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 106 (D106E)
Ref Sequence ENSEMBL: ENSMUSP00000026957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026957]
AlphaFold Q810Y8
Predicted Effect probably benign
Transcript: ENSMUST00000026957
AA Change: D106E

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: D106E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 207 407 3e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148030
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Pramel7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Pramel7 APN 2 87,321,429 (GRCm39) missense probably damaging 1.00
IGL01302:Pramel7 APN 2 87,321,717 (GRCm39) missense possibly damaging 0.58
IGL01365:Pramel7 APN 2 87,321,757 (GRCm39) splice site probably benign
IGL01728:Pramel7 APN 2 87,321,674 (GRCm39) missense possibly damaging 0.95
IGL01769:Pramel7 APN 2 87,319,932 (GRCm39) missense probably benign 0.09
IGL01932:Pramel7 APN 2 87,321,457 (GRCm39) missense possibly damaging 0.80
IGL02971:Pramel7 APN 2 87,320,417 (GRCm39) missense probably benign 0.03
IGL03376:Pramel7 APN 2 87,319,947 (GRCm39) missense probably damaging 1.00
R0625:Pramel7 UTSW 2 87,321,352 (GRCm39) missense probably benign 0.02
R1077:Pramel7 UTSW 2 87,321,534 (GRCm39) missense probably damaging 1.00
R1455:Pramel7 UTSW 2 87,320,067 (GRCm39) missense probably benign 0.00
R1666:Pramel7 UTSW 2 87,322,747 (GRCm39) missense probably damaging 0.99
R1863:Pramel7 UTSW 2 87,321,675 (GRCm39) missense probably benign 0.35
R1977:Pramel7 UTSW 2 87,321,465 (GRCm39) missense probably benign 0.01
R2141:Pramel7 UTSW 2 87,320,321 (GRCm39) missense probably damaging 1.00
R3027:Pramel7 UTSW 2 87,321,747 (GRCm39) missense probably benign 0.01
R4374:Pramel7 UTSW 2 87,320,415 (GRCm39) missense probably benign 0.05
R4735:Pramel7 UTSW 2 87,321,187 (GRCm39) nonsense probably null
R5232:Pramel7 UTSW 2 87,320,320 (GRCm39) missense probably damaging 0.97
R6255:Pramel7 UTSW 2 87,320,007 (GRCm39) missense probably benign 0.00
R6611:Pramel7 UTSW 2 87,320,393 (GRCm39) missense probably damaging 1.00
R6898:Pramel7 UTSW 2 87,320,070 (GRCm39) missense probably damaging 0.98
R7246:Pramel7 UTSW 2 87,322,509 (GRCm39) missense probably damaging 1.00
R7293:Pramel7 UTSW 2 87,322,706 (GRCm39) missense probably benign 0.28
R7408:Pramel7 UTSW 2 87,321,189 (GRCm39) missense possibly damaging 0.89
R7431:Pramel7 UTSW 2 87,320,282 (GRCm39) missense possibly damaging 0.65
R7469:Pramel7 UTSW 2 87,321,748 (GRCm39) missense probably benign 0.01
R8300:Pramel7 UTSW 2 87,319,967 (GRCm39) missense probably benign 0.01
R8803:Pramel7 UTSW 2 87,320,405 (GRCm39) missense probably benign 0.00
R8940:Pramel7 UTSW 2 87,321,612 (GRCm39) missense probably benign 0.03
R9281:Pramel7 UTSW 2 87,321,495 (GRCm39) missense probably damaging 1.00
R9723:Pramel7 UTSW 2 87,320,019 (GRCm39) missense possibly damaging 0.85
Posted On 2016-08-02