Incidental Mutation 'IGL01993:Tmem138'
ID 182071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem138
Ensembl Gene ENSMUSG00000024666
Gene Name transmembrane protein 138
Synonyms 2900055D14Rik, 1700113I01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01993
Quality Score
Status
Chromosome 19
Chromosomal Location 10547842-10554726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10548952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000025568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025568]
AlphaFold Q9D6G5
Predicted Effect probably benign
Transcript: ENSMUST00000025568
AA Change: N106S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025568
Gene: ENSMUSG00000024666
AA Change: N106S

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:TMEM138 38 156 4.7e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,208,452 (GRCm39) probably benign Het
Acnat2 A T 4: 49,380,131 (GRCm39) S398T probably benign Het
Adgrb2 G T 4: 129,912,635 (GRCm39) E1296D possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anapc2 C A 2: 25,164,725 (GRCm39) D322E probably benign Het
Apobec1 A G 6: 122,565,138 (GRCm39) probably benign Het
Asic1 T C 15: 99,595,353 (GRCm39) V393A probably benign Het
Cfap65 A C 1: 74,959,702 (GRCm39) F816C probably damaging Het
Cfap69 A C 5: 5,631,284 (GRCm39) L914R probably damaging Het
Cgas A G 9: 78,349,802 (GRCm39) S187P probably benign Het
Cspg4 C T 9: 56,805,762 (GRCm39) T2191I probably benign Het
Cyp11a1 T A 9: 57,928,106 (GRCm39) I210N probably damaging Het
Dgkb T A 12: 38,032,009 (GRCm39) Y24N probably benign Het
Epc1 T C 18: 6,449,136 (GRCm39) T504A possibly damaging Het
Fam135a A T 1: 24,094,992 (GRCm39) D125E probably damaging Het
Fgd3 T C 13: 49,433,664 (GRCm39) H345R possibly damaging Het
Gm12253 T C 11: 58,325,379 (GRCm39) V17A probably damaging Het
Hars1 C T 18: 36,903,265 (GRCm39) G355D probably damaging Het
Hpgd A T 8: 56,772,097 (GRCm39) I190F probably benign Het
Ighv1-34 A T 12: 114,815,003 (GRCm39) M53K probably benign Het
Ildr2 A T 1: 166,096,939 (GRCm39) T53S possibly damaging Het
Ints5 T A 19: 8,872,829 (GRCm39) C263S probably benign Het
Lars2 T C 9: 123,224,008 (GRCm39) probably benign Het
Ldha G A 7: 46,504,524 (GRCm39) A349T possibly damaging Het
Map3k2 T A 18: 32,359,684 (GRCm39) C512* probably null Het
Parp4 G A 14: 56,848,245 (GRCm39) R687Q possibly damaging Het
Plk2 T C 13: 110,535,731 (GRCm39) S518P probably damaging Het
Prrc2b T G 2: 32,114,057 (GRCm39) V2036G possibly damaging Het
Psg16 T A 7: 16,827,631 (GRCm39) S196T probably benign Het
Psme3ip1 G T 8: 95,302,380 (GRCm39) A217D possibly damaging Het
Ranbp17 T C 11: 33,450,770 (GRCm39) T56A possibly damaging Het
Retsat T C 6: 72,581,978 (GRCm39) probably benign Het
Robo3 G T 9: 37,335,949 (GRCm39) L484I probably damaging Het
Septin4 G T 11: 87,458,555 (GRCm39) G310W possibly damaging Het
Slc17a6 T C 7: 51,317,705 (GRCm39) M446T possibly damaging Het
Slc38a1 G A 15: 96,521,927 (GRCm39) T11M probably damaging Het
Traf1 G A 2: 34,836,879 (GRCm39) probably benign Het
Tspan8 T C 10: 115,675,913 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,256 (GRCm39) E2615G probably damaging Het
Vwde A G 6: 13,219,977 (GRCm39) I58T possibly damaging Het
Zc3h12c A G 9: 52,027,611 (GRCm39) S603P probably damaging Het
Zfp746 A T 6: 48,059,092 (GRCm39) S172R probably damaging Het
Other mutations in Tmem138
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0103:Tmem138 UTSW 19 10,552,316 (GRCm39) missense possibly damaging 0.49
R0103:Tmem138 UTSW 19 10,552,316 (GRCm39) missense possibly damaging 0.49
R0384:Tmem138 UTSW 19 10,552,186 (GRCm39) unclassified probably benign
R2259:Tmem138 UTSW 19 10,548,967 (GRCm39) missense probably benign 0.13
R2436:Tmem138 UTSW 19 10,552,268 (GRCm39) missense probably damaging 1.00
R5176:Tmem138 UTSW 19 10,552,634 (GRCm39) missense probably benign
R6137:Tmem138 UTSW 19 10,552,199 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07