Incidental Mutation 'R6415:Tmem231'
ID 543443
Institutional Source Beutler Lab
Gene Symbol Tmem231
Ensembl Gene ENSMUSG00000031951
Gene Name transmembrane protein 231
Synonyms 4932417I16Rik
MMRRC Submission 044557-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6415 (G1)
Quality Score 220.009
Status Validated
Chromosome 8
Chromosomal Location 112638639-112660445 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 112653524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034429] [ENSMUST00000211866]
AlphaFold Q3U284
Predicted Effect probably benign
Transcript: ENSMUST00000034429
SMART Domains Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951

DomainStartEndE-ValueType
Pfam:TM231 1 301 5.8e-131 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000211866
AA Change: H115Y
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Mapt G A 11: 104,189,824 (GRCm39) G265S probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pcdha8 T C 18: 37,127,614 (GRCm39) Y699H probably damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Sub1 T A 15: 11,986,560 (GRCm39) M96L probably benign Het
Tanc1 T C 2: 59,667,458 (GRCm39) V1233A probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Trap1 C T 16: 3,861,856 (GRCm39) R636H possibly damaging Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly damaging Het
Other mutations in Tmem231
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Tmem231 APN 8 112,645,072 (GRCm39) splice site probably benign
IGL02800:Tmem231 APN 8 112,640,664 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TTTCCCAGACATGGTGAAGCC -3'
(R):5'- CTACAGTATTTGGCCTGTGACAAAC -3'

Sequencing Primer
(F):5'- CCAGGCTGGGTCTATATATTCAGAGC -3'
(R):5'- GTGACAAACAGCAAATATTAGCTAC -3'
Posted On 2018-12-19