Incidental Mutation 'IGL01012:Tmem204'
ID 54045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem204
Ensembl Gene ENSMUSG00000024168
Gene Name transmembrane protein 204
Synonyms Clp24
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL01012
Quality Score
Status
Chromosome 17
Chromosomal Location 25276676-25300088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25289329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000024984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024984] [ENSMUST00000137386] [ENSMUST00000153745]
AlphaFold Q7TQI0
Predicted Effect probably benign
Transcript: ENSMUST00000024983
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 8e-17 BLAST
Blast:WD40 510 547 6e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 9e-13 BLAST
Blast:TPR 1011 1044 1e-13 BLAST
Blast:TPR 1377 1410 8e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000024984
AA Change: D97G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024984
Gene: ENSMUSG00000024168
AA Change: D97G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 102 124 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137386
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 1e-16 BLAST
Blast:WD40 510 547 5e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 8e-13 BLAST
Blast:TPR 1011 1044 9e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142000
Predicted Effect probably benign
Transcript: ENSMUST00000153745
SMART Domains Protein: ENSMUSP00000119536
Gene: ENSMUSG00000024168

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
transmembrane domain 71 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153895
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice have enlarged lymphatic vessels with an abnormal smooth muscle cell coating. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,972,772 (GRCm39) M249K possibly damaging Het
Adamtsl1 T C 4: 86,260,426 (GRCm39) F879S possibly damaging Het
Afap1l2 T C 19: 56,918,693 (GRCm39) E30G probably damaging Het
Aqp9 A G 9: 71,037,831 (GRCm39) probably benign Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Arhgef10 T C 8: 15,029,977 (GRCm39) S921P probably damaging Het
Atp6v0e2 T C 6: 48,514,749 (GRCm39) I22T probably damaging Het
AY074887 C T 9: 54,857,963 (GRCm39) probably benign Het
Bcl2l15 T A 3: 103,740,730 (GRCm39) D65E probably damaging Het
C2cd6 A T 1: 59,036,507 (GRCm39) probably benign Het
Ccdc138 G A 10: 58,376,737 (GRCm39) probably null Het
Ccdc7b A G 8: 129,904,838 (GRCm39) T159A possibly damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cd300ld2 T A 11: 114,903,123 (GRCm39) I241F probably benign Het
Cep192 T A 18: 67,945,477 (GRCm39) N192K possibly damaging Het
Csmd1 T C 8: 15,967,341 (GRCm39) K3174R probably benign Het
Dpy30 A T 17: 74,614,749 (GRCm39) L65I probably damaging Het
Eci2 A T 13: 35,174,312 (GRCm39) L83* probably null Het
F7 A T 8: 13,083,409 (GRCm39) E183V probably damaging Het
Gabrg1 T C 5: 70,935,512 (GRCm39) K214R probably benign Het
Galr2 A T 11: 116,173,996 (GRCm39) T209S probably damaging Het
Gimap9 T C 6: 48,654,851 (GRCm39) probably null Het
Gip C A 11: 95,916,285 (GRCm39) F28L probably benign Het
Gpd2 A G 2: 57,254,542 (GRCm39) N662S probably benign Het
Grik2 T G 10: 49,149,052 (GRCm39) D511A probably damaging Het
Ift122 T A 6: 115,876,452 (GRCm39) Y563N probably damaging Het
Ipo8 A G 6: 148,690,561 (GRCm39) probably benign Het
Islr T C 9: 58,064,511 (GRCm39) E332G probably damaging Het
Itgb7 G A 15: 102,136,020 (GRCm39) S5L probably benign Het
Itpr2 G A 6: 146,246,659 (GRCm39) R1087W probably damaging Het
Katnal2 C A 18: 77,105,250 (GRCm39) V66F probably damaging Het
Krt81 T C 15: 101,358,900 (GRCm39) D284G probably benign Het
Krtap4-8 T A 11: 99,670,831 (GRCm39) probably benign Het
Map1s C A 8: 71,366,554 (GRCm39) N486K probably benign Het
Med13l G A 5: 118,872,093 (GRCm39) D842N probably damaging Het
Mef2c T A 13: 83,803,714 (GRCm39) M306K probably damaging Het
Myb C T 10: 21,022,159 (GRCm39) V377I probably benign Het
Myocd C T 11: 65,075,451 (GRCm39) G558R possibly damaging Het
Nars1 G T 18: 64,638,039 (GRCm39) A305E probably damaging Het
Neb A T 2: 52,086,373 (GRCm39) N5233K probably benign Het
Nipsnap2 T C 5: 129,823,503 (GRCm39) I181T possibly damaging Het
Or10d4b A T 9: 39,534,661 (GRCm39) M81L probably benign Het
Or1s2 T C 19: 13,758,937 (GRCm39) probably benign Het
P3h2 A C 16: 25,805,998 (GRCm39) C282G probably damaging Het
Pcgf5 T A 19: 36,420,268 (GRCm39) C167S probably damaging Het
Pck2 T C 14: 55,781,526 (GRCm39) probably benign Het
Peli2 C T 14: 48,490,187 (GRCm39) R169* probably null Het
Pramel16 T A 4: 143,676,784 (GRCm39) probably benign Het
Psme3ip1 G A 8: 95,313,990 (GRCm39) R104W probably damaging Het
Ralgapa2 T A 2: 146,263,659 (GRCm39) Q686L possibly damaging Het
Scap C A 9: 110,191,488 (GRCm39) P50H probably damaging Het
Sh3rf2 T A 18: 42,187,257 (GRCm39) D125E possibly damaging Het
Slc25a38 T C 9: 119,945,560 (GRCm39) probably benign Het
Slc35a5 A G 16: 44,964,195 (GRCm39) V346A probably damaging Het
Smad4 T A 18: 73,808,880 (GRCm39) N129I probably damaging Het
Sod2 C T 17: 13,232,464 (GRCm39) A163V possibly damaging Het
Spred3 T A 7: 28,860,948 (GRCm39) probably benign Het
Stag1 C A 9: 100,737,912 (GRCm39) A423E possibly damaging Het
Stk17b A T 1: 53,800,196 (GRCm39) S261T probably benign Het
Stx3 T C 19: 11,769,152 (GRCm39) K58E probably damaging Het
Timm10b C A 7: 105,290,345 (GRCm39) Y79* probably null Het
Tnfrsf25 T C 4: 152,202,885 (GRCm39) V181A probably benign Het
Trim54 T G 5: 31,294,302 (GRCm39) S313A probably benign Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Vmn2r23 A G 6: 123,706,555 (GRCm39) T462A probably benign Het
Wdr27 T A 17: 15,146,509 (GRCm39) H162L probably damaging Het
Other mutations in Tmem204
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:Tmem204 UTSW 17 25,277,324 (GRCm39) missense probably damaging 0.99
R0164:Tmem204 UTSW 17 25,277,324 (GRCm39) missense probably damaging 0.99
R1653:Tmem204 UTSW 17 25,299,501 (GRCm39) missense possibly damaging 0.52
R2165:Tmem204 UTSW 17 25,299,566 (GRCm39) unclassified probably benign
R2846:Tmem204 UTSW 17 25,299,307 (GRCm39) missense probably benign 0.16
R5416:Tmem204 UTSW 17 25,277,300 (GRCm39) missense probably damaging 1.00
R7447:Tmem204 UTSW 17 25,277,270 (GRCm39) missense probably damaging 0.99
R7631:Tmem204 UTSW 17 25,299,414 (GRCm39) missense probably damaging 1.00
R8118:Tmem204 UTSW 17 25,299,312 (GRCm39) missense possibly damaging 0.66
R9658:Tmem204 UTSW 17 25,299,322 (GRCm39) missense possibly damaging 0.85
R9673:Tmem204 UTSW 17 25,299,243 (GRCm39) missense probably damaging 1.00
Z1177:Tmem204 UTSW 17 25,289,315 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-28