Incidental Mutation 'R6137:Tmem138'
ID 488435
Institutional Source Beutler Lab
Gene Symbol Tmem138
Ensembl Gene ENSMUSG00000024666
Gene Name transmembrane protein 138
Synonyms 2900055D14Rik, 1700113I01Rik
MMRRC Submission 044284-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6137 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10547842-10554726 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 10552199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025568] [ENSMUST00000168445]
AlphaFold Q9D6G5
Predicted Effect probably null
Transcript: ENSMUST00000025568
SMART Domains Protein: ENSMUSP00000025568
Gene: ENSMUSG00000024666

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:TMEM138 38 156 4.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168445
SMART Domains Protein: ENSMUSP00000130680
Gene: ENSMUSG00000034445

DomainStartEndE-ValueType
B561 46 175 1.47e-40 SMART
low complexity region 205 219 N/A INTRINSIC
Meta Mutation Damage Score 0.9659 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik G T 7: 130,959,342 (GRCm39) H165Q probably damaging Het
Akap13 T A 7: 75,327,164 (GRCm39) F721Y probably damaging Het
Akap6 A T 12: 53,187,137 (GRCm39) D1517V probably damaging Het
Amigo3 T A 9: 107,930,927 (GRCm39) S117T probably damaging Het
Atf7ip2 T A 16: 10,019,275 (GRCm39) N34K probably damaging Het
Cacnb1 A C 11: 97,896,608 (GRCm39) V351G probably damaging Het
Casp9 T A 4: 141,532,660 (GRCm39) probably null Het
Ccdc51 C T 9: 108,918,483 (GRCm39) T24I probably benign Het
Cdh23 T A 10: 60,270,291 (GRCm39) Y618F probably damaging Het
Chd1 T A 17: 15,978,950 (GRCm39) W1271R probably damaging Het
Dars1 T C 1: 128,296,176 (GRCm39) T386A probably benign Het
Dchs1 T A 7: 105,414,313 (GRCm39) D834V probably damaging Het
Dgkd T A 1: 87,864,103 (GRCm39) V933E possibly damaging Het
Dnah17 A G 11: 117,916,480 (GRCm39) F4203S probably damaging Het
Fancm T C 12: 65,177,156 (GRCm39) L2000P probably damaging Het
Fbxo11 A T 17: 88,316,097 (GRCm39) H444Q probably benign Het
Fbxw14 T A 9: 109,105,290 (GRCm39) T292S probably damaging Het
Fer1l6 T C 15: 58,431,055 (GRCm39) S237P probably damaging Het
Frem3 T C 8: 81,341,676 (GRCm39) I1323T probably benign Het
Grin2a A G 16: 9,471,313 (GRCm39) F652L probably benign Het
Grin2b T A 6: 135,900,456 (GRCm39) M142L possibly damaging Het
Helz A G 11: 107,509,886 (GRCm39) Q503R possibly damaging Het
Ighv5-17 A G 12: 113,822,915 (GRCm39) Y69H probably benign Het
Il17ra A G 6: 120,452,543 (GRCm39) N242S probably benign Het
Immp1l G C 2: 105,794,553 (GRCm39) G117A probably damaging Het
Itm2c T C 1: 85,822,413 (GRCm39) V10A probably benign Het
Kif1b T C 4: 149,322,883 (GRCm39) K679E possibly damaging Het
Kng1 T C 16: 22,893,395 (GRCm39) V256A possibly damaging Het
Lamc2 T G 1: 153,041,899 (GRCm39) R78S possibly damaging Het
Loxl4 A G 19: 42,587,232 (GRCm39) F621S probably damaging Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lypd3 T C 7: 24,339,919 (GRCm39) Y329H probably benign Het
Mettl13 T C 1: 162,363,455 (GRCm39) D225G probably benign Het
Myo7b A G 18: 32,133,027 (GRCm39) F441L probably damaging Het
Nnt T A 13: 119,472,864 (GRCm39) M699L possibly damaging Het
Nr1h3 A T 2: 91,022,196 (GRCm39) M144K probably damaging Het
Or2t46 A T 11: 58,471,894 (GRCm39) M75L probably benign Het
Or5al6 A G 2: 85,976,313 (GRCm39) V255A probably benign Het
Or6z6 T C 7: 6,491,844 (GRCm39) T3A probably benign Het
Pappa2 A T 1: 158,699,113 (GRCm39) Y667N probably damaging Het
Prps1l3 A G 12: 57,285,674 (GRCm39) I155V probably benign Het
Ptgs2 T A 1: 149,976,744 (GRCm39) N24K probably benign Het
Ralgds A T 2: 28,437,600 (GRCm39) M514L probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sacm1l T A 9: 123,398,070 (GRCm39) V254D probably damaging Het
Selenot A T 3: 58,492,705 (GRCm39) Q64L probably damaging Het
Sgsm2 G A 11: 74,741,677 (GRCm39) R1037W probably damaging Het
Slc22a12 A G 19: 6,592,754 (GRCm39) V10A probably benign Het
Spem2 G T 11: 69,707,522 (GRCm39) S481* probably null Het
Styk1 C T 6: 131,287,979 (GRCm39) G128D probably damaging Het
Tex54 A T 19: 8,718,148 (GRCm39) D6V probably damaging Het
Tmc6 A T 11: 117,667,154 (GRCm39) L148Q probably damaging Het
Tnpo3 A G 6: 29,555,267 (GRCm39) V772A probably benign Het
Topaz1 T C 9: 122,626,821 (GRCm39) F1483S possibly damaging Het
Tuba4a C A 1: 75,192,699 (GRCm39) C305F probably damaging Het
Ubap1 T G 4: 41,379,262 (GRCm39) F159V possibly damaging Het
Vmn2r9 A G 5: 108,996,882 (GRCm39) I129T probably benign Het
Wwc2 A T 8: 48,309,298 (GRCm39) M828K unknown Het
Zfp236 A T 18: 82,689,919 (GRCm39) S187T possibly damaging Het
Other mutations in Tmem138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Tmem138 APN 19 10,548,952 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- AGGGTGAACTTATCATGGTCCTC -3'
(R):5'- TGTCTACAGCATCCAGGATATTGC -3'

Sequencing Primer
(F):5'- TGTGTAGATCCAGCATGACC -3'
(R):5'- GCATCCAGGATATTGCAATCC -3'
Posted On 2017-10-10