Incidental Mutation 'R9018:Tmco1'
ID 713516
Institutional Source Beutler Lab
Gene Symbol Tmco1
Ensembl Gene ENSMUSG00000052428
Gene Name transmembrane and coiled-coil domains 1
Synonyms 1190006A08Rik, ESTM39, 4930403O06Rik
MMRRC Submission 068848-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R9018 (G1)
Quality Score 56.0072
Status Validated
Chromosome 1
Chromosomal Location 167136239-167161547 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 167136132 bp (GRCm39)
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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,532 (GRCm39) E1552G probably damaging Het
Abca14 A T 7: 119,888,763 (GRCm39) K1236N probably benign Het
Adam3 A T 8: 25,184,292 (GRCm39) Y569* probably null Het
Adgrb2 A G 4: 129,907,659 (GRCm39) T998A probably benign Het
Adgre4 T A 17: 56,098,993 (GRCm39) H166Q probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Ankrd11 A G 8: 123,622,251 (GRCm39) S534P probably damaging Het
Atn1 C T 6: 124,722,661 (GRCm39) E805K unknown Het
Bsn T C 9: 107,994,488 (GRCm39) T596A probably benign Het
Cacnb4 C T 2: 52,324,706 (GRCm39) R452Q probably benign Het
Cdc123 C A 2: 5,849,683 (GRCm39) A13S probably benign Het
Chd7 G A 4: 8,847,083 (GRCm39) G1609S possibly damaging Het
Cp T A 3: 20,043,316 (GRCm39) C1035S probably damaging Het
Dcaf1 T A 9: 106,742,836 (GRCm39) C1383S probably damaging Het
Derl3 G A 10: 75,729,604 (GRCm39) V54I probably benign Het
Dgcr6 T C 16: 17,884,607 (GRCm39) L25P probably damaging Het
Dmrt2 A G 19: 25,650,985 (GRCm39) E57G probably benign Het
Dnaaf11 A T 15: 66,321,479 (GRCm39) S221T probably benign Het
Dst A G 1: 34,235,140 (GRCm39) K3562E probably damaging Het
Dyrk2 T C 10: 118,696,014 (GRCm39) T415A probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln1 T C 15: 85,126,215 (GRCm39) I484T probably damaging Het
Greb1l T A 18: 10,542,004 (GRCm39) D1250E possibly damaging Het
Ift88 A C 14: 57,675,702 (GRCm39) K72Q probably benign Het
Impg1 T A 9: 80,301,474 (GRCm39) I228F probably benign Het
Itsn2 A G 12: 4,708,091 (GRCm39) N799S possibly damaging Het
Jade1 T A 3: 41,564,292 (GRCm39) C521S probably benign Het
Katna1 T G 10: 7,637,040 (GRCm39) L397R probably damaging Het
Kcnj15 A C 16: 95,097,129 (GRCm39) K250N probably damaging Het
Macc1 A G 12: 119,409,941 (GRCm39) I236M possibly damaging Het
Mapk13 C T 17: 28,996,760 (GRCm39) R276C probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mindy4 C T 6: 55,278,072 (GRCm39) H639Y possibly damaging Het
Mphosph9 A G 5: 124,436,713 (GRCm39) S544P probably benign Het
Muc4 T C 16: 32,582,910 (GRCm39) Y492H Het
Mybbp1a C T 11: 72,334,420 (GRCm39) T225I probably benign Het
Myo6 A T 9: 80,159,086 (GRCm39) K285I unknown Het
Nmd3 G A 3: 69,647,328 (GRCm39) V277I probably benign Het
Nol9 G C 4: 152,123,918 (GRCm39) R36P probably damaging Het
Nom1 A G 5: 29,639,712 (GRCm39) R13G possibly damaging Het
Nudt14 G A 12: 112,902,906 (GRCm39) H40Y probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5b118 A T 19: 13,448,721 (GRCm39) H87L possibly damaging Het
Or8d1b T A 9: 38,887,687 (GRCm39) F238L probably benign Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pgghg A G 7: 140,524,579 (GRCm39) I309V probably benign Het
Phf12 C T 11: 77,914,510 (GRCm39) P651S possibly damaging Het
Pltp A G 2: 164,694,410 (GRCm39) L199P probably damaging Het
Pole T A 5: 110,437,675 (GRCm39) L78I probably benign Het
Ppm1d C A 11: 85,227,961 (GRCm39) H292Q probably damaging Het
Ppp2cb A C 8: 34,105,787 (GRCm39) I224L probably benign Het
Rabggta A T 14: 55,957,880 (GRCm39) I171N probably damaging Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Rb1cc1 G A 1: 6,319,490 (GRCm39) E970K probably benign Het
Rnh1 A T 7: 140,748,544 (GRCm39) V11D probably benign Het
Robo4 C T 9: 37,315,520 (GRCm39) T288I probably benign Het
Scmh1 A G 4: 120,362,514 (GRCm39) D250G probably benign Het
Sele T A 1: 163,881,248 (GRCm39) C483S probably damaging Het
Slc12a6 A G 2: 112,174,585 (GRCm39) probably benign Het
Slc5a4a A G 10: 76,002,546 (GRCm39) E234G possibly damaging Het
Smarca5 A G 8: 81,431,355 (GRCm39) L954P probably damaging Het
St7 T A 6: 17,906,494 (GRCm39) N413K probably damaging Het
Stam2 C T 2: 52,606,463 (GRCm39) V141I probably benign Het
Stim1 C T 7: 102,060,482 (GRCm39) T175I probably benign Het
Strap A G 6: 137,716,811 (GRCm39) N130S probably benign Het
Stxbp2 A G 8: 3,692,627 (GRCm39) probably benign Het
Sult3a2 T A 10: 33,655,689 (GRCm39) I97F probably benign Het
Tbc1d32 A T 10: 55,948,693 (GRCm39) N965K probably benign Het
Tle3 T A 9: 61,319,750 (GRCm39) I506N probably damaging Het
Tvp23a A G 16: 10,264,846 (GRCm39) S22P probably damaging Het
Vmn2r82 A G 10: 79,232,539 (GRCm39) N846S probably damaging Het
Vmn2r83 A G 10: 79,316,020 (GRCm39) N472S probably damaging Het
Xpo7 G A 14: 70,944,864 (GRCm39) Q10* probably null Het
Zfp423 G C 8: 88,508,381 (GRCm39) S654R probably benign Het
Zfp646 A T 7: 127,478,243 (GRCm39) H140L probably benign Het
Zfp719 C A 7: 43,233,489 (GRCm39) probably benign Het
Other mutations in Tmco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Tmco1 APN 1 167,143,837 (GRCm39) missense probably damaging 1.00
IGL02619:Tmco1 APN 1 167,153,597 (GRCm39) splice site probably benign
IGL03093:Tmco1 APN 1 167,143,848 (GRCm39) missense probably damaging 1.00
R0317:Tmco1 UTSW 1 167,153,462 (GRCm39) missense probably damaging 0.96
R1704:Tmco1 UTSW 1 167,153,506 (GRCm39) missense possibly damaging 0.64
R7144:Tmco1 UTSW 1 167,136,022 (GRCm39) start gained probably benign
R7540:Tmco1 UTSW 1 167,153,572 (GRCm39) missense
R7851:Tmco1 UTSW 1 167,136,255 (GRCm39) start gained probably benign
R8436:Tmco1 UTSW 1 167,136,254 (GRCm39) missense
R8890:Tmco1 UTSW 1 167,143,814 (GRCm39) missense
R9005:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9006:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9007:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9030:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9058:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9060:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9061:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9103:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9113:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9175:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9226:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9227:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9228:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9229:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9230:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9233:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9235:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9236:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9254:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9255:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9256:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9257:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9282:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9330:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9331:Tmco1 UTSW 1 167,136,132 (GRCm39) start gained probably benign
R9408:Tmco1 UTSW 1 167,141,700 (GRCm39) missense
R9480:Tmco1 UTSW 1 167,157,757 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGCATCATAAAGGCTGGTTTAAC -3'
(R):5'- TTTGACAGCCCCGAGTCTAC -3'

Sequencing Primer
(F):5'- TGGTTTAACCAGCGCCC -3'
(R):5'- AGCCCCGAGTCTACACTTC -3'
Posted On 2022-06-06