Incidental Mutation 'IGL02800:Tmem231'
ID 360149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem231
Ensembl Gene ENSMUSG00000031951
Gene Name transmembrane protein 231
Synonyms 4932417I16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02800
Quality Score
Status
Chromosome 8
Chromosomal Location 112638639-112660445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112640664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 283 (V283A)
Ref Sequence ENSEMBL: ENSMUSP00000034429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034429] [ENSMUST00000034430] [ENSMUST00000211866]
AlphaFold Q3U284
Predicted Effect probably benign
Transcript: ENSMUST00000034429
AA Change: V283A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951
AA Change: V283A

DomainStartEndE-ValueType
Pfam:TM231 1 301 5.8e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034430
SMART Domains Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Sulfotransfer_1 40 357 1.2e-25 PFAM
Pfam:Sulfotransfer_3 41 294 4.7e-16 PFAM
low complexity region 363 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211866
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 transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,296,349 (GRCm39) I1045T probably damaging Het
Ankrd22 T C 19: 34,143,181 (GRCm39) probably benign Het
Bahcc1 A G 11: 120,163,760 (GRCm39) D686G probably damaging Het
Carns1 A G 19: 4,216,569 (GRCm39) probably benign Het
Cc2d1b C T 4: 108,483,333 (GRCm39) L306F probably benign Het
Ccdc153 A G 9: 44,157,129 (GRCm39) E135G probably damaging Het
Ccne1 T C 7: 37,802,224 (GRCm39) D148G probably damaging Het
Cfap57 A T 4: 118,471,947 (GRCm39) M144K probably damaging Het
Chd6 A G 2: 160,826,552 (GRCm39) V1049A probably damaging Het
Cpne9 A G 6: 113,279,034 (GRCm39) D476G probably benign Het
Dna2 T C 10: 62,797,504 (GRCm39) probably null Het
Eif4h T C 5: 134,656,459 (GRCm39) D77G probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Fxyd5 C T 7: 30,732,404 (GRCm39) R176H possibly damaging Het
G6pd2 A G 5: 61,966,735 (GRCm39) E170G probably damaging Het
Haus3 A G 5: 34,323,668 (GRCm39) I314T possibly damaging Het
Igkv4-54 A G 6: 69,608,862 (GRCm39) V41A probably damaging Het
Kidins220 T A 12: 25,053,092 (GRCm39) C461S probably damaging Het
Lsr T C 7: 30,657,838 (GRCm39) D442G probably damaging Het
Mecom T C 3: 30,015,183 (GRCm39) I847V probably damaging Het
Mia2 C T 12: 59,235,277 (GRCm39) R1326* probably null Het
Myo15a C A 11: 60,393,195 (GRCm39) H2240N probably damaging Het
Or1e17 A G 11: 73,831,942 (GRCm39) Y290C probably damaging Het
Or4f62 A T 2: 111,986,589 (GRCm39) I98F possibly damaging Het
Osgep T A 14: 51,153,314 (GRCm39) probably benign Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pgm3 T C 9: 86,437,431 (GRCm39) E481G possibly damaging Het
Plch1 T A 3: 63,605,899 (GRCm39) D1326V probably benign Het
Rabgap1l T C 1: 160,299,623 (GRCm39) D590G possibly damaging Het
Rapsn A G 2: 90,873,584 (GRCm39) M244V probably benign Het
Rcbtb2 T A 14: 73,405,543 (GRCm39) Y299* probably null Het
Slc8a1 A T 17: 81,715,752 (GRCm39) D760E probably benign Het
Smim23 C A 11: 32,774,424 (GRCm39) probably null Het
Sva A G 6: 42,017,069 (GRCm39) T59A unknown Het
Tacc2 T A 7: 130,225,809 (GRCm39) D831E probably benign Het
Tasor2 T C 13: 3,635,154 (GRCm39) N551S probably benign Het
Tg G T 15: 66,629,735 (GRCm39) W472L probably damaging Het
Traf4 A T 11: 78,051,061 (GRCm39) I365N possibly damaging Het
Usf3 G A 16: 44,039,459 (GRCm39) S1313N probably benign Het
Vangl1 G A 3: 102,070,611 (GRCm39) probably benign Het
Wdr70 T C 15: 8,111,980 (GRCm39) S88G probably benign Het
Other mutations in Tmem231
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Tmem231 APN 8 112,645,072 (GRCm39) splice site probably benign
R2281:Tmem231 UTSW 8 112,645,563 (GRCm39) missense probably damaging 1.00
R2306:Tmem231 UTSW 8 112,645,503 (GRCm39) missense probably damaging 1.00
R3615:Tmem231 UTSW 8 112,644,945 (GRCm39) missense possibly damaging 0.63
R3616:Tmem231 UTSW 8 112,644,945 (GRCm39) missense possibly damaging 0.63
R4541:Tmem231 UTSW 8 112,641,224 (GRCm39) missense probably benign 0.02
R4708:Tmem231 UTSW 8 112,660,418 (GRCm39) start gained probably benign
R5522:Tmem231 UTSW 8 112,645,042 (GRCm39) missense possibly damaging 0.92
R6266:Tmem231 UTSW 8 112,641,897 (GRCm39) missense probably null 0.71
R6414:Tmem231 UTSW 8 112,653,524 (GRCm39) intron probably benign
R6415:Tmem231 UTSW 8 112,653,524 (GRCm39) intron probably benign
R6418:Tmem231 UTSW 8 112,653,524 (GRCm39) intron probably benign
R6419:Tmem231 UTSW 8 112,653,524 (GRCm39) intron probably benign
R6622:Tmem231 UTSW 8 112,645,563 (GRCm39) missense probably damaging 1.00
R6938:Tmem231 UTSW 8 112,660,144 (GRCm39) missense probably damaging 0.97
R7103:Tmem231 UTSW 8 112,645,517 (GRCm39) splice site probably null
R7221:Tmem231 UTSW 8 112,660,308 (GRCm39) missense probably benign
R7305:Tmem231 UTSW 8 112,641,927 (GRCm39) missense possibly damaging 0.70
R7438:Tmem231 UTSW 8 112,645,040 (GRCm39) missense probably damaging 1.00
R7781:Tmem231 UTSW 8 112,644,922 (GRCm39) critical splice donor site probably null
R8951:Tmem231 UTSW 8 112,640,697 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18