Incidental Mutation 'R9331:Tmco1'
ID 706824
Institutional Source Beutler Lab
Gene Symbol Tmco1
Ensembl Gene ENSMUSG00000052428
Gene Name transmembrane and coiled-coil domains 1
Synonyms 1190006A08Rik, ESTM39, 4930403O06Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R9331 (G1)
Quality Score 135.008
Status Not 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,616,324 (GRCm39) E922G probably benign Het
Abca8a A G 11: 109,917,154 (GRCm39) L1615P probably damaging Het
Actrt3 T C 3: 30,652,050 (GRCm39) D348G probably damaging Het
Adam3 A G 8: 25,177,951 (GRCm39) M654T probably benign Het
Adamts8 A T 9: 30,862,770 (GRCm39) H325L probably damaging Het
Agpat2 A G 2: 26,487,318 (GRCm39) Y72H probably benign Het
Ap3m1 A G 14: 21,095,666 (GRCm39) Y55H possibly damaging Het
Cacna1a C T 8: 85,142,446 (GRCm39) A58V probably damaging Het
Cacna1c C T 6: 119,084,909 (GRCm39) V10I Het
Ccnt1 T A 15: 98,441,097 (GRCm39) K724* probably null Het
Cd72 T A 4: 43,454,320 (GRCm39) T38S possibly damaging Het
Crispld1 T A 1: 17,832,454 (GRCm39) I480K probably damaging Het
Diaph3 G T 14: 87,378,461 (GRCm39) Y30* probably null Het
Ei24 A G 9: 36,701,217 (GRCm39) I34T possibly damaging Het
Fdxacb1 G A 9: 50,681,511 (GRCm39) S144N probably damaging Het
Fgf21 G T 7: 45,263,614 (GRCm39) Q155K probably benign Het
Gdap1l1 A T 2: 163,295,664 (GRCm39) R310S probably benign Het
Gm44501 G A 17: 40,889,620 (GRCm39) V45I probably benign Het
Gne A G 4: 44,066,845 (GRCm39) L56P probably damaging Het
Hcn4 T C 9: 58,767,705 (GRCm39) S1089P probably damaging Het
Hexim1 C T 11: 103,007,974 (GRCm39) T76M probably damaging Het
Hkdc1 A T 10: 62,236,114 (GRCm39) L476* probably null Het
Hoxd8 CGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGC 2: 74,535,942 (GRCm39) probably benign Het
Hyal4 A T 6: 24,765,866 (GRCm39) I407L probably damaging Het
Ighv5-9-1 T C 12: 113,699,878 (GRCm39) Y78C possibly damaging Het
Kif20a T A 18: 34,762,562 (GRCm39) C478* probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Ltbp2 C T 12: 84,922,965 (GRCm39) R34Q probably benign Het
Mccc1 A G 3: 36,014,238 (GRCm39) V693A probably damaging Het
Muc5b C A 7: 141,411,475 (GRCm39) Q1474K unknown Het
Nos1 T C 5: 118,038,589 (GRCm39) V474A possibly damaging Het
Nprl2 G A 9: 107,421,955 (GRCm39) V244M probably damaging Het
Npy2r A G 3: 82,448,068 (GRCm39) S236P probably damaging Het
Or8b9 G A 9: 37,766,710 (GRCm39) V199I probably benign Het
Or8c10 A G 9: 38,279,003 (GRCm39) S44G probably benign Het
P2rx7 T C 5: 122,818,961 (GRCm39) L461P probably benign Het
Pacc1 T C 1: 191,077,318 (GRCm39) probably null Het
Pde12 T C 14: 26,389,828 (GRCm39) I294V probably benign Het
Plcl1 T C 1: 55,736,030 (GRCm39) L457P possibly damaging Het
Plekho2 C A 9: 65,463,866 (GRCm39) A328S probably benign Het
Polg T C 7: 79,108,148 (GRCm39) K556E probably damaging Het
Prl7a2 A G 13: 27,849,062 (GRCm39) S76P probably damaging Het
Ptar1 T A 19: 23,671,707 (GRCm39) C37S probably benign Het
Pwwp2b G A 7: 138,835,357 (GRCm39) G266D probably damaging Het
Pygm T C 19: 6,448,129 (GRCm39) F812L probably damaging Het
Smarcc2 A T 10: 128,323,310 (GRCm39) T982S unknown Het
Spata31e2 T C 1: 26,722,790 (GRCm39) R797G probably benign Het
Syne1 C G 10: 5,073,666 (GRCm39) V1226L probably benign Het
Tmub1 T C 5: 24,650,985 (GRCm39) T225A probably damaging Het
Trmo A C 4: 46,387,642 (GRCm39) C59W possibly damaging Het
Ttc6 C A 12: 57,720,509 (GRCm39) A925D probably damaging Het
Tubb1 A G 2: 174,297,472 (GRCm39) E27G probably damaging Het
Unkl G A 17: 25,450,723 (GRCm39) C503Y probably damaging Het
Usp40 A G 1: 87,901,828 (GRCm39) I785T probably damaging Het
Vmn2r32 G A 7: 7,467,402 (GRCm39) Q709* probably null Het
Xaf1 T C 11: 72,197,470 (GRCm39) S149P probably damaging Het
Ythdc2 T A 18: 44,970,499 (GRCm39) V271E possibly damaging Het
Zfp386 C T 12: 116,011,433 (GRCm39) probably benign Het
Zfp456 T A 13: 67,514,389 (GRCm39) E439V probably damaging 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
R9018: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
R9408:Tmco1 UTSW 1 167,141,700 (GRCm39) missense
R9480:Tmco1 UTSW 1 167,157,757 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGCATCATAAAGGCTGGTTTAACC -3'
(R):5'- ACTTTGACAGCCCCGAGTCTAC -3'

Sequencing Primer
(F):5'- TGGTTTAACCAGCGCCC -3'
(R):5'- AGCCCCGAGTCTACACTTC -3'
Posted On 2022-04-18