Incidental Mutation 'R4431:Tmem67'
ID 328600
Institutional Source Beutler Lab
Gene Symbol Tmem67
Ensembl Gene ENSMUSG00000049488
Gene Name transmembrane protein 67
Synonyms b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12051473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 785 (N785I)
Ref Sequence ENSEMBL: ENSMUSP00000103928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050686
AA Change: N719I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: N719I

DomainStartEndE-ValueType
low complexity region 17 23 N/A INTRINSIC
Pfam:Meckelin 166 995 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108293
AA Change: N785I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: N785I

DomainStartEndE-ValueType
low complexity region 83 89 N/A INTRINSIC
Pfam:Meckelin 236 1061 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131145
SMART Domains Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Meta Mutation Damage Score 0.3978 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Tmem67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Tmem67 APN 4 12,061,826 (GRCm39) missense probably damaging 0.98
IGL00768:Tmem67 APN 4 12,055,029 (GRCm39) critical splice donor site probably null
IGL00813:Tmem67 APN 4 12,058,587 (GRCm39) splice site probably benign
IGL01070:Tmem67 APN 4 12,054,750 (GRCm39) missense probably benign 0.20
IGL01088:Tmem67 APN 4 12,063,126 (GRCm39) missense probably damaging 1.00
IGL01353:Tmem67 APN 4 12,079,895 (GRCm39) missense probably damaging 1.00
IGL01490:Tmem67 APN 4 12,057,422 (GRCm39) splice site probably benign
IGL01885:Tmem67 APN 4 12,057,389 (GRCm39) missense probably damaging 1.00
IGL02061:Tmem67 APN 4 12,053,526 (GRCm39) missense probably damaging 1.00
IGL02151:Tmem67 APN 4 12,068,882 (GRCm39) missense probably benign 0.35
IGL02166:Tmem67 APN 4 12,047,313 (GRCm39) missense possibly damaging 0.90
IGL02243:Tmem67 APN 4 12,070,584 (GRCm39) missense possibly damaging 0.93
IGL02517:Tmem67 APN 4 12,069,463 (GRCm39) missense possibly damaging 0.67
IGL02736:Tmem67 APN 4 12,045,789 (GRCm39) splice site probably null
R0282:Tmem67 UTSW 4 12,087,930 (GRCm39) missense probably damaging 0.99
R0514:Tmem67 UTSW 4 12,089,317 (GRCm39) missense probably benign
R1221:Tmem67 UTSW 4 12,045,871 (GRCm39) missense possibly damaging 0.92
R1301:Tmem67 UTSW 4 12,089,400 (GRCm39) unclassified probably benign
R1581:Tmem67 UTSW 4 12,047,814 (GRCm39) missense probably damaging 1.00
R1680:Tmem67 UTSW 4 12,087,840 (GRCm39) missense probably benign 0.00
R1804:Tmem67 UTSW 4 12,045,789 (GRCm39) splice site probably null
R2174:Tmem67 UTSW 4 12,063,730 (GRCm39) nonsense probably null
R2191:Tmem67 UTSW 4 12,069,413 (GRCm39) critical splice donor site probably null
R2246:Tmem67 UTSW 4 12,040,651 (GRCm39) missense probably damaging 1.00
R2566:Tmem67 UTSW 4 12,079,918 (GRCm39) missense probably damaging 0.99
R3409:Tmem67 UTSW 4 12,073,952 (GRCm39) missense probably benign 0.00
R3410:Tmem67 UTSW 4 12,073,952 (GRCm39) missense probably benign 0.00
R4078:Tmem67 UTSW 4 12,040,633 (GRCm39) critical splice donor site probably null
R4282:Tmem67 UTSW 4 12,073,922 (GRCm39) missense probably damaging 0.99
R4429:Tmem67 UTSW 4 12,051,473 (GRCm39) missense possibly damaging 0.52
R4430:Tmem67 UTSW 4 12,051,473 (GRCm39) missense possibly damaging 0.52
R4734:Tmem67 UTSW 4 12,063,158 (GRCm39) missense probably benign 0.00
R4856:Tmem67 UTSW 4 12,089,416 (GRCm39) unclassified probably benign
R4865:Tmem67 UTSW 4 12,070,262 (GRCm39) missense probably benign 0.01
R5056:Tmem67 UTSW 4 12,070,471 (GRCm39) missense probably benign 0.29
R5575:Tmem67 UTSW 4 12,047,886 (GRCm39) missense possibly damaging 0.93
R5614:Tmem67 UTSW 4 12,061,755 (GRCm39) missense possibly damaging 0.54
R6030:Tmem67 UTSW 4 12,063,799 (GRCm39) missense probably benign 0.01
R6030:Tmem67 UTSW 4 12,063,799 (GRCm39) missense probably benign 0.01
R6182:Tmem67 UTSW 4 12,051,402 (GRCm39) missense probably benign 0.05
R6562:Tmem67 UTSW 4 12,053,445 (GRCm39) critical splice donor site probably null
R6574:Tmem67 UTSW 4 12,063,086 (GRCm39) missense possibly damaging 0.70
R6696:Tmem67 UTSW 4 12,061,754 (GRCm39) critical splice donor site probably null
R6824:Tmem67 UTSW 4 12,051,449 (GRCm39) missense probably damaging 1.00
R7028:Tmem67 UTSW 4 12,075,484 (GRCm39) missense probably benign 0.12
R7174:Tmem67 UTSW 4 12,077,337 (GRCm39) missense possibly damaging 0.82
R7369:Tmem67 UTSW 4 12,053,535 (GRCm39) missense probably damaging 1.00
R7638:Tmem67 UTSW 4 12,079,883 (GRCm39) missense probably benign 0.17
R7671:Tmem67 UTSW 4 12,063,698 (GRCm39) missense probably benign 0.00
R7736:Tmem67 UTSW 4 12,053,455 (GRCm39) missense probably benign 0.09
R7920:Tmem67 UTSW 4 12,089,284 (GRCm39) critical splice donor site probably null
R7981:Tmem67 UTSW 4 12,070,592 (GRCm39) missense probably damaging 1.00
R8005:Tmem67 UTSW 4 12,047,821 (GRCm39) missense probably damaging 1.00
R8086:Tmem67 UTSW 4 12,040,738 (GRCm39) missense probably damaging 1.00
R8196:Tmem67 UTSW 4 12,075,661 (GRCm39) missense probably benign 0.00
R8344:Tmem67 UTSW 4 12,058,576 (GRCm39) missense probably benign 0.00
R8350:Tmem67 UTSW 4 12,087,891 (GRCm39) missense probably benign 0.07
R8450:Tmem67 UTSW 4 12,087,891 (GRCm39) missense probably benign 0.07
R8899:Tmem67 UTSW 4 12,055,038 (GRCm39) missense probably damaging 0.99
R8992:Tmem67 UTSW 4 12,058,559 (GRCm39) missense probably damaging 1.00
R9281:Tmem67 UTSW 4 12,079,962 (GRCm39) missense possibly damaging 0.90
R9335:Tmem67 UTSW 4 12,040,640 (GRCm39) nonsense probably null
R9539:Tmem67 UTSW 4 12,045,815 (GRCm39) missense probably damaging 1.00
R9539:Tmem67 UTSW 4 12,045,814 (GRCm39) missense probably damaging 1.00
Z1176:Tmem67 UTSW 4 12,087,983 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATTCGCACATGCCTGGATC -3'
(R):5'- AAGTTTCCTACGGCTCCTAAG -3'

Sequencing Primer
(F):5'- CACAGAGAGCTCTATGACTGCTTTG -3'
(R):5'- TTTTCAAGGCAGGTAGGTA -3'
Posted On 2015-07-21