Incidental Mutation 'IGL02969:Tmem213'
ID365746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem213
Ensembl Gene ENSMUSG00000029829
Gene Nametransmembrane protein 213
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL02969
Quality Score
Status
Chromosome6
Chromosomal Location38109255-38115809 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38115666 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 111 (V111E)
Ref Sequence ENSEMBL: ENSMUSP00000031851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031851] [ENSMUST00000040259]
Predicted Effect probably damaging
Transcript: ENSMUST00000031851
AA Change: V111E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031851
Gene: ENSMUSG00000029829
AA Change: V111E

DomainStartEndE-ValueType
Pfam:TMEM213 49 127 7.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040259
SMART Domains Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600

DomainStartEndE-ValueType
Pfam:V_ATPase_I 26 824 3.5e-293 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157299
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,220,237 probably benign Het
1700061G19Rik A T 17: 56,883,751 T440S probably damaging Het
Akap12 T A 10: 4,354,864 V558E probably damaging Het
Atg4c T C 4: 99,258,387 probably benign Het
Atg7 T A 6: 114,724,923 N673K possibly damaging Het
BC005561 C T 5: 104,519,343 T577I probably benign Het
Brpf3 A G 17: 28,821,305 D900G probably benign Het
C2cd5 T C 6: 143,079,943 Y176C probably damaging Het
Cep70 A T 9: 99,298,504 I571F possibly damaging Het
Cir1 C T 2: 73,303,776 G150R probably null Het
Cyp46a1 T C 12: 108,343,037 V68A probably damaging Het
Dlgap2 A G 8: 14,831,579 T883A possibly damaging Het
Dnah2 C A 11: 69,521,187 K249N possibly damaging Het
Dnajc11 A G 4: 151,978,046 K434R probably benign Het
Eri3 A G 4: 117,649,311 Y279C probably damaging Het
Gm3259 C T 5: 95,341,399 P234S probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ilk A G 7: 105,740,340 K85E possibly damaging Het
Insrr G T 3: 87,814,191 G1135* probably null Het
Itgax T A 7: 128,149,123 M1108K probably benign Het
Mpzl3 C T 9: 45,068,216 T155I probably benign Het
Olfr1308 A T 2: 111,960,567 C169S probably damaging Het
Olfr805 A T 10: 129,723,196 M116K probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2h A G 16: 20,719,057 Y68C probably damaging Het
Rhobtb3 A G 13: 75,943,431 S2P probably damaging Het
Slc24a5 T C 2: 125,083,227 S263P probably damaging Het
Spz1 T G 13: 92,575,343 K208N possibly damaging Het
Tbpl2 C A 2: 24,091,093 C231F probably damaging Het
Tdrd6 T C 17: 43,627,549 I869M probably damaging Het
Tesk1 G A 4: 43,447,027 E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 C471* probably null Het
Tmem232 A T 17: 65,256,563 Y612N possibly damaging Het
Ttn T C 2: 76,899,363 probably benign Het
Vmn2r113 G A 17: 22,958,617 V792I probably benign Het
Wdfy1 A G 1: 79,713,871 V273A probably benign Het
Wwp1 A G 4: 19,623,200 S762P probably damaging Het
Other mutations in Tmem213
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Tmem213 APN 6 38109438 missense possibly damaging 0.56
IGL03337:Tmem213 APN 6 38109543 utr 5 prime probably null
R1864:Tmem213 UTSW 6 38109552 missense possibly damaging 0.53
R1865:Tmem213 UTSW 6 38109552 missense possibly damaging 0.53
R5557:Tmem213 UTSW 6 38109531 missense possibly damaging 0.73
R5809:Tmem213 UTSW 6 38115654 missense possibly damaging 0.93
R5999:Tmem213 UTSW 6 38109451 missense probably benign 0.18
R6209:Tmem213 UTSW 6 38115582 missense probably damaging 0.98
R6230:Tmem213 UTSW 6 38114616 missense probably damaging 0.99
X0067:Tmem213 UTSW 6 38109534 missense probably benign 0.18
Posted On2015-12-18