Incidental Mutation 'R7144:Tmco1'
ID 553599
Institutional Source Beutler Lab
Gene Symbol Tmco1
Ensembl Gene ENSMUSG00000052428
Gene Name transmembrane and coiled-coil domains 1
Synonyms ESTM39, 4930403O06Rik, 1190006A08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R7144 (G1)
Quality Score 103.273
Status Validated
Chromosome 1
Chromosomal Location 167308378-167333978 bp(+) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 167308453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097473] [ENSMUST00000195015]
AlphaFold Q921L3
Predicted Effect probably benign
Transcript: ENSMUST00000097473
SMART Domains Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428

DomainStartEndE-ValueType
Pfam:DUF106 3 166 6.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193446
Predicted Effect probably benign
Transcript: ENSMUST00000195015
SMART Domains Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428

DomainStartEndE-ValueType
Pfam:DUF106 3 166 2.7e-51 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (95/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, postnatal growth retardation, delayed osteogenesis, craniofacial anomalies, enlarged brain ventricles, impaired coordination and spatial recognition memory, abnormal calcium ion homeostasis, and decreased survivor rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,433,573 I272F possibly damaging Het
Adcy10 G T 1: 165,510,370 M184I probably benign Het
Aldoa G T 7: 126,796,862 T124N possibly damaging Het
Ap4e1 T A 2: 127,011,807 I55N probably damaging Het
Arhgap21 T C 2: 20,865,387 T913A probably benign Het
Atrnl1 G A 19: 58,042,352 E1309K probably damaging Het
BC034090 A T 1: 155,242,031 C114S probably damaging Het
Brinp2 A G 1: 158,295,424 probably null Het
Ccna1 G T 3: 55,045,699 H408Q probably benign Het
Cd209g T G 8: 4,135,189 probably benign Het
Cdc20b A G 13: 113,083,371 I433V probably benign Het
Cdk2ap1 G A 5: 124,354,358 P5L probably damaging Het
Cep128 T C 12: 91,294,159 E310G probably damaging Het
Cflar G T 1: 58,753,848 V458F Het
Clec4b2 A G 6: 123,181,384 T70A probably benign Het
Cntnap5c A G 17: 58,286,888 T741A probably benign Het
Csf3r A T 4: 126,043,722 T800S probably benign Het
Csnk1g2 T C 10: 80,637,899 Y67H probably damaging Het
Cyp2c67 A T 19: 39,615,694 V406E probably benign Het
Dnah10 A G 5: 124,822,942 D3868G probably damaging Het
Dnah7a A T 1: 53,698,708 probably null Het
Dst A G 1: 34,152,243 N208S probably damaging Het
Echdc3 A G 2: 6,206,413 probably null Het
Edrf1 T C 7: 133,637,849 S13P probably benign Het
Ephb1 T C 9: 101,964,077 Y734C probably damaging Het
Eps8l1 A G 7: 4,472,185 Y325C probably damaging Het
Evc2 A G 5: 37,386,839 D644G probably damaging Het
Eya4 A C 10: 23,173,045 D54E probably benign Het
Filip1 T C 9: 79,820,213 S375G possibly damaging Het
Fmo9 A G 1: 166,677,620 M68T probably benign Het
Gemin5 G C 11: 58,141,663 P772A probably benign Het
Gle1 T G 2: 29,943,793 C401G probably damaging Het
Gm14548 A G 7: 3,897,616 V45A probably damaging Het
Gm7298 A T 6: 121,761,587 I376F probably damaging Het
Gpr35 A C 1: 92,982,631 I22L probably benign Het
Grin2b T G 6: 135,733,476 D1024A possibly damaging Het
Hmcn1 T C 1: 150,663,873 N2956D probably damaging Het
Htt T C 5: 34,846,006 L1275P probably damaging Het
Ibtk T C 9: 85,743,691 D2G probably benign Het
Il16 T A 7: 83,646,451 D1170V probably damaging Het
Iqgap3 T A 3: 88,116,910 I1513N probably damaging Het
Kiz T G 2: 146,950,510 probably null Het
Krt12 A T 11: 99,416,013 *488K probably null Het
Lap3 A T 5: 45,496,948 T83S probably benign Het
Lars2 T A 9: 123,431,993 S410T probably damaging Het
Limch1 A G 5: 67,017,658 T518A probably benign Het
Lrrc49 A T 9: 60,615,156 S381T probably damaging Het
Lrrk2 A G 15: 91,734,055 D919G possibly damaging Het
Mmp1a A T 9: 7,475,318 S363C probably damaging Het
Mrps22 A C 9: 98,601,471 probably null Het
Mybpc3 T C 2: 91,134,604 I1066T probably benign Het
Myo10 A T 15: 25,723,925 N215I probably damaging Het
Myocd A C 11: 65,218,648 L99R probably damaging Het
Nadk T G 4: 155,589,336 I394S probably damaging Het
Nadsyn1 T C 7: 143,811,215 N251S probably damaging Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Ncapd2 G A 6: 125,176,670 P694L probably benign Het
Olfr1101 G T 2: 86,988,820 R119S probably damaging Het
Olfr1243 T C 2: 89,527,557 I284M probably damaging Het
Olfr317 A C 11: 58,732,745 L140R probably damaging Het
Olfr705 T A 7: 106,873,868 I126F probably damaging Het
Pcdhb13 T A 18: 37,443,256 I229K probably damaging Het
Pgbd5 A T 8: 124,374,317 M400K possibly damaging Het
Phactr3 A G 2: 178,302,736 N409S probably damaging Het
Pik3c2g C A 6: 139,629,870 P305Q probably damaging Het
Pik3r4 G A 9: 105,650,584 V379M probably damaging Het
Pkd1l2 A T 8: 117,076,131 C250* probably null Het
Pramef17 A C 4: 143,991,533 S447A probably benign Het
Rapgef6 A C 11: 54,657,365 T792P possibly damaging Het
Rexo5 A G 7: 119,805,191 D170G probably damaging Het
Rnf17 G A 14: 56,512,332 probably null Het
Sept11 A G 5: 93,156,866 I181V probably benign Het
Serpina1e T G 12: 103,947,018 *414C probably null Het
Serpine1 C A 5: 137,071,064 Q80H probably damaging Het
Sh3bp2 A G 5: 34,561,631 N560S probably benign Het
Slc25a25 A G 2: 32,419,166 F221S probably damaging Het
Spag17 G T 3: 100,027,401 probably null Het
Sspn T C 6: 145,961,155 L104P probably damaging Het
St18 A C 1: 6,833,594 E693A probably damaging Het
St6galnac3 T C 3: 153,411,532 I185V possibly damaging Het
St8sia1 T C 6: 142,876,669 D156G probably damaging Het
Syne2 C A 12: 76,005,378 S4092R probably benign Het
Tll1 T A 8: 64,124,945 D76V possibly damaging Het
Tnfaip3 T A 10: 19,007,281 T179S probably benign Het
Trav16 T C 14: 53,743,639 I95T possibly damaging Het
Trip12 A T 1: 84,793,714 S280T probably damaging Het
Unc79 A G 12: 103,142,626 M2166V probably benign Het
Vmn2r1 A G 3: 64,089,941 I339M probably damaging Het
Vwa5b1 A G 4: 138,605,431 probably null Het
Washc4 A T 10: 83,573,774 probably null Het
Wisp1 T A 15: 66,913,030 V184E probably damaging Het
Wiz A G 17: 32,357,628 S642P possibly damaging Het
Zeb2 T A 2: 45,110,041 K60N possibly damaging Het
Zfat T A 15: 68,178,782 T797S probably benign Het
Zfp74 T C 7: 29,935,165 K373E probably damaging Het
Zswim5 T C 4: 116,975,976 probably null Het
Other mutations in Tmco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Tmco1 APN 1 167316268 missense probably damaging 1.00
IGL02619:Tmco1 APN 1 167326028 splice site probably benign
IGL03093:Tmco1 APN 1 167316279 missense probably damaging 1.00
R0317:Tmco1 UTSW 1 167325893 missense probably damaging 0.96
R1704:Tmco1 UTSW 1 167325937 missense possibly damaging 0.64
R7540:Tmco1 UTSW 1 167326003 missense
R7851:Tmco1 UTSW 1 167308686 start gained probably benign
R8436:Tmco1 UTSW 1 167308685 missense
R8890:Tmco1 UTSW 1 167316245 missense
R9005:Tmco1 UTSW 1 167308563 start gained probably benign
R9006:Tmco1 UTSW 1 167308563 start gained probably benign
R9007:Tmco1 UTSW 1 167308563 start gained probably benign
R9030:Tmco1 UTSW 1 167308563 start gained probably benign
R9058:Tmco1 UTSW 1 167308563 start gained probably benign
R9060:Tmco1 UTSW 1 167308563 start gained probably benign
R9061:Tmco1 UTSW 1 167308563 start gained probably benign
R9103:Tmco1 UTSW 1 167308563 start gained probably benign
R9113:Tmco1 UTSW 1 167308563 start gained probably benign
R9175:Tmco1 UTSW 1 167308563 start gained probably benign
R9227:Tmco1 UTSW 1 167308563 start gained probably benign
R9228:Tmco1 UTSW 1 167308563 start gained probably benign
R9229:Tmco1 UTSW 1 167308563 start gained probably benign
R9230:Tmco1 UTSW 1 167308563 start gained probably benign
R9233:Tmco1 UTSW 1 167308563 start gained probably benign
R9235:Tmco1 UTSW 1 167308563 start gained probably benign
R9236:Tmco1 UTSW 1 167308563 start gained probably benign
R9254:Tmco1 UTSW 1 167308563 start gained probably benign
R9255:Tmco1 UTSW 1 167308563 start gained probably benign
R9256:Tmco1 UTSW 1 167308563 start gained probably benign
R9257:Tmco1 UTSW 1 167308563 start gained probably benign
R9282:Tmco1 UTSW 1 167308563 start gained probably benign
R9330:Tmco1 UTSW 1 167308563 start gained probably benign
R9331:Tmco1 UTSW 1 167308563 start gained probably benign
R9408:Tmco1 UTSW 1 167314131 missense
Predicted Primers PCR Primer
(F):5'- TCCTTCCAATAAAAGCCCGG -3'
(R):5'- GGAACTACAGGCTTCACTCC -3'

Sequencing Primer
(F):5'- TAAAAGCCCGGCCGCAG -3'
(R):5'- GCAACGCGCAAGTCTCG -3'
Posted On 2019-05-15