Incidental Mutation 'IGL01924:Tmem213'
ID180205
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: 0.030) question?
Stock #IGL01924
Quality Score
Status
Chromosome6
Chromosomal Location38109255-38115809 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38109438 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 10 (S10C)
Ref Sequence ENSEMBL: ENSMUSP00000031851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031851] [ENSMUST00000040259] [ENSMUST00000114908]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031851
AA Change: S10C

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031851
Gene: ENSMUSG00000029829
AA Change: S10C

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 probably benign
Transcript: ENSMUST00000114908
SMART Domains Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130816
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Tmem213
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Tmem213 APN 6 38115666 missense probably damaging 0.99
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 On2014-05-07