Incidental Mutation 'IGL02380:Tmem215'
ID291353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem215
Ensembl Gene ENSMUSG00000046593
Gene Nametransmembrane protein 215
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02380
Quality Score
Status
Chromosome4
Chromosomal Location40472180-40477168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40474534 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 204 (I204F)
Ref Sequence ENSEMBL: ENSMUSP00000136595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049655] [ENSMUST00000179526]
Predicted Effect probably benign
Transcript: ENSMUST00000049655
AA Change: I204F

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052129
Gene: ENSMUSG00000046593
AA Change: I204F

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
low complexity region 168 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179526
AA Change: I204F

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136595
Gene: ENSMUSG00000046593
AA Change: I204F

DomainStartEndE-ValueType
Pfam:TMEM215 1 235 2.5e-117 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,994,544 P546T possibly damaging Het
Abca13 T C 11: 9,291,599 I1154T possibly damaging Het
Abca8a A G 11: 110,078,815 probably benign Het
Acsm5 A T 7: 119,537,286 Q360L probably benign Het
Adamtsl5 T C 10: 80,341,778 E350G probably benign Het
Adgrl2 A T 3: 148,828,489 L1017* probably null Het
Aqr T C 2: 114,109,936 D1243G probably damaging Het
Arhgef17 G T 7: 100,929,443 P766Q possibly damaging Het
Bclaf1 T C 10: 20,325,367 V413A possibly damaging Het
Bcr A G 10: 75,175,299 D14G probably benign Het
Cadps2 C T 6: 23,287,732 V1190I probably benign Het
Cdh9 A G 15: 16,856,000 I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 probably null Het
Cnbd1 T A 4: 18,887,749 probably null Het
Col4a3 T C 1: 82,672,788 probably benign Het
Coro1a T A 7: 126,703,116 K20* probably null Het
Crb2 T A 2: 37,783,435 D114E probably damaging Het
Dnah6 C A 6: 73,076,640 K2870N probably benign Het
Fam196a A T 7: 134,899,144 probably null Het
Fpr3 A G 17: 17,970,992 H175R probably benign Het
Gk5 T G 9: 96,150,480 S248A possibly damaging Het
Grm4 T A 17: 27,434,661 I772F probably damaging Het
Gstt4 A G 10: 75,817,239 I163T possibly damaging Het
Hr A G 14: 70,557,761 R278G probably damaging Het
Igfbp5 T A 1: 72,863,949 R156* probably null Het
Ighv1-4 G A 12: 114,487,133 probably benign Het
Kcna2 A C 3: 107,104,958 Q285P probably benign Het
Klf5 A T 14: 99,301,458 R102S possibly damaging Het
Ldb1 A T 19: 46,034,490 M252K possibly damaging Het
Lrrc66 T C 5: 73,629,666 I114V possibly damaging Het
Map1b A T 13: 99,431,143 I1690N unknown Het
Myo1a A G 10: 127,714,485 T565A probably benign Het
Nt5c T C 11: 115,491,301 D84G possibly damaging Het
Pde1b A G 15: 103,519,990 N51S possibly damaging Het
Pikfyve T A 1: 65,256,021 L1437Q probably damaging Het
Pld5 C T 1: 176,140,044 V82I probably damaging Het
Psmb6 T A 11: 70,525,911 N42K probably benign Het
Slco3a1 G A 7: 74,554,490 S34F probably damaging Het
Slfn9 A G 11: 82,981,220 Y897H probably benign Het
Spag6l T C 16: 16,763,169 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Txnl1 A G 18: 63,674,043 probably null Het
Ube2q2 T A 9: 55,163,012 D79E probably benign Het
Ugt2a3 T C 5: 87,336,799 D122G probably benign Het
Vmn2r73 A T 7: 85,858,175 I643K probably benign Het
Xkrx T A X: 134,150,639 H421L probably benign Het
Other mutations in Tmem215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Tmem215 APN 4 40473940 missense possibly damaging 0.75
IGL02826:Tmem215 APN 4 40474632 makesense probably null
R1531:Tmem215 UTSW 4 40473965 missense probably damaging 1.00
R4941:Tmem215 UTSW 4 40474520 missense probably damaging 0.97
R5636:Tmem215 UTSW 4 40474394 missense probably damaging 0.99
R6820:Tmem215 UTSW 4 40473926 start codon destroyed probably null 0.88
R7767:Tmem215 UTSW 4 40474042 missense possibly damaging 0.75
R8958:Tmem215 UTSW 4 40474376 missense probably benign 0.03
Posted On2015-04-16