Incidental Mutation 'R4541:Tmem231'
ID 377816
Institutional Source Beutler Lab
Gene Symbol Tmem231
Ensembl Gene ENSMUSG00000031951
Gene Name transmembrane protein 231
Synonyms 4932417I16Rik
MMRRC Submission 041777-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4541 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 112638639-112660445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112641224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
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: T223A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951
AA Change: T223A

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
Meta Mutation Damage Score 0.2200 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (51/53)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,769,676 (GRCm39) P73S probably benign Het
4930533L02Rik G A 7: 124,917,750 (GRCm39) noncoding transcript Het
Acot4 A T 12: 84,090,022 (GRCm39) I240F probably benign Het
B4galt6 A G 18: 20,878,496 (GRCm39) V10A probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccnb3 T C X: 6,875,308 (GRCm39) T424A probably benign Het
Cd8a A T 6: 71,350,856 (GRCm39) D107V probably benign Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Ceacam12 G A 7: 17,805,648 (GRCm39) M278I probably benign Het
Cfap43 C T 19: 47,736,454 (GRCm39) V1346I probably benign Het
Clic5 C T 17: 44,552,956 (GRCm39) T70M probably damaging Het
Dbpht2 A T 12: 74,345,934 (GRCm39) noncoding transcript Het
Ddhd1 G A 14: 45,860,313 (GRCm39) R140* probably null Het
Evpl T G 11: 116,123,470 (GRCm39) I301L probably benign Het
Glul T A 1: 153,778,782 (GRCm39) Y30* probably null Het
Itgad A T 7: 127,797,287 (GRCm39) H878L probably benign Het
Kcnk10 A G 12: 98,402,536 (GRCm39) I301T probably damaging Het
Klhl14 A T 18: 21,687,696 (GRCm39) Y575* probably null Het
Mrps2 G T 2: 28,358,412 (GRCm39) probably benign Het
Mymx GCC GC 17: 45,912,519 (GRCm39) probably null Het
Napb G A 2: 148,551,229 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,171,706 (GRCm39) noncoding transcript Het
Or10g9b A C 9: 39,917,589 (GRCm39) S219A possibly damaging Het
Or4f15 A G 2: 111,813,981 (GRCm39) I146T probably benign Het
Piwil4 C A 9: 14,629,612 (GRCm39) M438I probably damaging Het
Pla2r1 C T 2: 60,258,082 (GRCm39) D1199N probably damaging Het
Pmpca T G 2: 26,280,201 (GRCm39) probably benign Het
Prkcq G T 2: 11,288,623 (GRCm39) M525I possibly damaging Het
Rnf225 T C 7: 12,662,520 (GRCm39) probably null Het
Sco1 G T 11: 66,943,668 (GRCm39) A50S probably benign Het
Slc12a2 T A 18: 58,046,037 (GRCm39) probably null Het
Slc36a1 T C 11: 55,112,849 (GRCm39) V148A probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Tbc1d10c G T 19: 4,239,473 (GRCm39) R96S probably damaging Het
Tbc1d2b A T 9: 90,087,222 (GRCm39) I919N probably damaging Het
Tcea1 T C 1: 4,963,659 (GRCm39) L233P probably damaging Het
Tlcd4 A G 3: 121,028,884 (GRCm39) M1T probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tomm34 A G 2: 163,896,719 (GRCm39) Y243H probably benign Het
Tubgcp4 A T 2: 121,025,907 (GRCm39) N584I probably benign Het
Vldlr T C 19: 27,216,192 (GRCm39) C7R probably damaging Het
Vmn1r42 A T 6: 89,822,533 (GRCm39) M12K probably benign Het
Vsig10 C T 5: 117,490,881 (GRCm39) probably benign Het
Zfp974 C G 7: 27,625,829 (GRCm39) V14L probably 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
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
Predicted Primers PCR Primer
(F):5'- CTGTTCCTACTTGGGGTAGC -3'
(R):5'- TGGCCTGAAAATCAATTCTTTCCC -3'

Sequencing Primer
(F):5'- TTCCTACTTGGGGTAGCTAAAGAAGC -3'
(R):5'- GTTCATTAAGCCTGATGACATGAG -3'
Posted On 2016-04-07