Incidental Mutation 'R1221:Tmem67'
ID 100060
Institutional Source Beutler Lab
Gene Symbol Tmem67
Ensembl Gene ENSMUSG00000049488
Gene Name transmembrane protein 67
Synonyms b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo
MMRRC Submission 039290-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1221 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12045871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 862 (S862L)
Ref Sequence ENSEMBL: ENSMUSP00000052644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050686
AA Change: S862L

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: S862L

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: S928L

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: S928L

DomainStartEndE-ValueType
low complexity region 83 89 N/A INTRINSIC
Pfam:Meckelin 236 1061 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130117
Predicted Effect probably benign
Transcript: ENSMUST00000131145
SMART Domains Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,942,460 (GRCm39) S668P unknown Het
Anks1 A G 17: 28,269,616 (GRCm39) Q770R possibly damaging Het
Apc2 G A 10: 80,142,214 (GRCm39) V378I probably damaging Het
Apeh A G 9: 107,969,808 (GRCm39) V184A probably benign Het
AU018091 A G 7: 3,208,717 (GRCm39) F404S probably damaging Het
Bap1 T C 14: 30,979,608 (GRCm39) L537P probably damaging Het
Bhlha15 A G 5: 144,128,341 (GRCm39) Y151C probably damaging Het
Bmp8b A T 4: 123,008,504 (GRCm39) T157S probably damaging Het
Btbd1 G T 7: 81,468,005 (GRCm39) H172N possibly damaging Het
C1rl A G 6: 124,470,940 (GRCm39) R83G probably benign Het
Cep104 A G 4: 154,072,902 (GRCm39) T387A probably benign Het
Cfi A T 3: 129,666,618 (GRCm39) Q447L probably damaging Het
Cimap1a G T 7: 140,428,296 (GRCm39) W10L probably damaging Het
Coq6 A G 12: 84,418,301 (GRCm39) E295G possibly damaging Het
Dclre1a T C 19: 56,519,700 (GRCm39) T978A possibly damaging Het
Dlc1 T C 8: 37,051,985 (GRCm39) D582G probably benign Het
Dlgap2 A G 8: 14,776,952 (GRCm39) T65A probably benign Het
Dock5 G A 14: 67,996,610 (GRCm39) S1711L probably benign Het
Drc3 A C 11: 60,275,052 (GRCm39) I338L probably benign Het
Dsc1 A T 18: 20,247,599 (GRCm39) C5* probably null Het
F5 A G 1: 163,989,368 (GRCm39) Y90C probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm136 G T 4: 34,744,127 (GRCm39) A239E possibly damaging Het
Gm4952 A T 19: 12,601,059 (GRCm39) D93V possibly damaging Het
Gramd1c T C 16: 43,810,227 (GRCm39) T454A possibly damaging Het
Gstm6 A G 3: 107,848,418 (GRCm39) I58T probably damaging Het
Kdm3b C T 18: 34,941,298 (GRCm39) S263L possibly damaging Het
Kdm5b G C 1: 134,526,829 (GRCm39) S317T probably damaging Het
Myo15b A G 11: 115,777,546 (GRCm39) R71G possibly damaging Het
Nlrp1b G A 11: 71,072,290 (GRCm39) P518S probably benign Het
Nme5 A T 18: 34,704,575 (GRCm39) I90N probably damaging Het
Nrxn1 T A 17: 90,950,722 (GRCm39) T478S probably damaging Het
Or8g22 A C 9: 38,958,483 (GRCm39) D77E probably damaging Het
Osmr G A 15: 6,853,042 (GRCm39) Q617* probably null Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdpn G A 4: 143,000,608 (GRCm39) R75C probably damaging Het
Pidd1 A T 7: 141,018,725 (GRCm39) F842Y probably damaging Het
Resf1 T A 6: 149,227,719 (GRCm39) V255E probably benign Het
Sema3a A G 5: 13,566,190 (GRCm39) Q158R probably benign Het
Setbp1 T A 18: 78,899,798 (GRCm39) R1290W probably damaging Het
Slc20a1 G A 2: 129,050,324 (GRCm39) G494D probably benign Het
Spag17 A G 3: 99,889,584 (GRCm39) E151G possibly damaging Het
Stt3b A G 9: 115,086,567 (GRCm39) F351L probably benign Het
Tas1r2 A G 4: 139,396,436 (GRCm39) M592V probably benign Het
Tbcd A G 11: 121,387,909 (GRCm39) T347A probably benign Het
Tmem109 C A 19: 10,851,733 (GRCm39) R37L possibly damaging Het
Ttn T A 2: 76,781,857 (GRCm39) D1017V probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfyve16 T C 13: 92,644,813 (GRCm39) S1130G possibly 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
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
R4431: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'- ATGGAGTTCTCTGACACGGCTGAC -3'
(R):5'- AAGAGGTTTGGTGCCCAACACG -3'

Sequencing Primer
(F):5'- CGGCTGACTGAAAACATAACTG -3'
(R):5'- GCAGTTTCTAGTCAGATGAGACAAC -3'
Posted On 2014-01-15