Incidental Mutation 'R2174:Tmem67'
ID 237676
Institutional Source Beutler Lab
Gene Symbol Tmem67
Ensembl Gene ENSMUSG00000049488
Gene Name transmembrane protein 67
Synonyms b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 12063730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 477 (W477*)
Ref Sequence ENSEMBL: ENSMUSP00000103928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000050686
AA Change: W411*
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: W411*

DomainStartEndE-ValueType
low complexity region 17 23 N/A INTRINSIC
Pfam:Meckelin 166 995 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108293
AA Change: W477*
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: W477*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147746
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S 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
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'- GTACCTTGTACCTTGGCTCATG -3'
(R):5'- TGAAAGCCAATCTCCTCATGTAG -3'

Sequencing Primer
(F):5'- TGTGTATAAAGTTGCACATCACCCC -3'
(R):5'- TGGAAATCTCTTGAAAGTACATGC -3'
Posted On 2014-10-02