Incidental Mutation 'R6200:Tmco3'
ID 503147
Institutional Source Beutler Lab
Gene Symbol Tmco3
Ensembl Gene ENSMUSG00000038497
Gene Name transmembrane and coiled-coil domains 3
Synonyms B230339H12Rik
MMRRC Submission 044340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6200 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13338190-13372924 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 13342077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045229] [ENSMUST00000045366] [ENSMUST00000110838] [ENSMUST00000110839] [ENSMUST00000110840] [ENSMUST00000203467] [ENSMUST00000203604]
AlphaFold Q8BH01
Predicted Effect probably damaging
Transcript: ENSMUST00000045229
AA Change: L117Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: L117Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
coiled coil region 124 204 N/A INTRINSIC
Pfam:Na_H_Exchanger 274 662 9.2e-74 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000045366
SMART Domains Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 1.5e-13 PFAM
Pfam:Cullin_binding 136 247 2.2e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110838
SMART Domains Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 9.9e-14 PFAM
PDB:4GAO|G 62 173 3e-71 PDB
Predicted Effect probably null
Transcript: ENSMUST00000110839
SMART Domains Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 1.1e-13 PFAM
Pfam:Cullin_binding 134 206 2.3e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110840
SMART Domains Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 7.6e-14 PFAM
PDB:4GAO|G 62 199 6e-75 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000203467
SMART Domains Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 7.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211645
Predicted Effect probably null
Transcript: ENSMUST00000203604
SMART Domains Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 4.7e-11 PFAM
Pfam:Cullin_binding 136 213 1.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210402
Meta Mutation Damage Score 0.4056 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 91% (32/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Ash1l A G 3: 88,977,834 (GRCm39) H2719R probably damaging Het
Atraid A G 5: 31,210,210 (GRCm39) N127D probably damaging Het
Capzb T C 4: 139,007,324 (GRCm39) V145A probably benign Het
Catspere2 A G 1: 177,939,124 (GRCm39) N666D possibly damaging Het
Cfhr4 T A 1: 139,682,073 (GRCm39) R174S probably damaging Het
Cldn17 A C 16: 88,303,459 (GRCm39) L90R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fancc A C 13: 63,508,062 (GRCm39) L158V probably damaging Het
Fcamr T C 1: 130,730,927 (GRCm39) L60P probably benign Het
G6pd2 C T 5: 61,967,214 (GRCm39) R330C probably benign Het
Gpr158 A T 2: 21,404,227 (GRCm39) N333I probably damaging Het
Herpud2 A G 9: 25,062,130 (GRCm39) Y45H probably damaging Het
Icam5 A G 9: 20,950,045 (GRCm39) Y868C probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Luzp1 C A 4: 136,268,577 (GRCm39) Q267K probably benign Het
Nkpd1 C A 7: 19,258,528 (GRCm39) A769E possibly damaging Het
Or5p58 AACTCTGTCACT AACT 7: 107,694,732 (GRCm39) probably null Het
Pabpc4l C A 3: 46,401,138 (GRCm39) V169L probably damaging Het
Pcdhga7 A G 18: 37,849,135 (GRCm39) N381D probably damaging Het
Pcsk1 A T 13: 75,263,374 (GRCm39) N372Y possibly damaging Het
Ppp1r21 C T 17: 88,876,613 (GRCm39) T475M possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Psd2 G A 18: 36,139,776 (GRCm39) probably null Het
Psip1 T C 4: 83,392,610 (GRCm39) K100E probably benign Het
Pxdn A G 12: 30,053,111 (GRCm39) H1096R probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a8 C T 15: 79,137,137 (GRCm39) G91D probably damaging Het
Slc22a21 A T 11: 53,848,864 (GRCm39) I296N probably damaging Het
Smad9 A G 3: 54,696,607 (GRCm39) D224G probably benign Het
Tle2 G A 10: 81,424,706 (GRCm39) V678M probably damaging Het
Tmc1 C T 19: 20,766,954 (GRCm39) R749Q possibly damaging Het
Tspoap1 A G 11: 87,652,529 (GRCm39) E101G possibly damaging Het
Zfp57 A T 17: 37,321,303 (GRCm39) T386S probably benign Het
Other mutations in Tmco3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Tmco3 APN 8 13,342,825 (GRCm39) missense probably damaging 1.00
IGL01139:Tmco3 APN 8 13,369,887 (GRCm39) missense possibly damaging 0.92
IGL02116:Tmco3 APN 8 13,342,706 (GRCm39) unclassified probably benign
IGL03114:Tmco3 APN 8 13,348,205 (GRCm39) splice site probably benign
Ganado UTSW 8 13,342,077 (GRCm39) splice site probably null
R0244:Tmco3 UTSW 8 13,342,037 (GRCm39) missense probably damaging 1.00
R0385:Tmco3 UTSW 8 13,346,027 (GRCm39) missense probably damaging 1.00
R0711:Tmco3 UTSW 8 13,342,039 (GRCm39) missense probably damaging 0.96
R1594:Tmco3 UTSW 8 13,342,052 (GRCm39) missense probably damaging 0.98
R1727:Tmco3 UTSW 8 13,368,866 (GRCm39) missense possibly damaging 0.52
R1752:Tmco3 UTSW 8 13,341,741 (GRCm39) missense probably benign
R2375:Tmco3 UTSW 8 13,342,059 (GRCm39) missense possibly damaging 0.72
R2850:Tmco3 UTSW 8 13,345,024 (GRCm39) missense probably benign 0.00
R3843:Tmco3 UTSW 8 13,346,114 (GRCm39) splice site probably benign
R4003:Tmco3 UTSW 8 13,341,959 (GRCm39) missense probably damaging 0.96
R4059:Tmco3 UTSW 8 13,370,848 (GRCm39) missense probably benign 0.27
R5071:Tmco3 UTSW 8 13,342,860 (GRCm39) nonsense probably null
R5072:Tmco3 UTSW 8 13,342,860 (GRCm39) nonsense probably null
R5456:Tmco3 UTSW 8 13,369,815 (GRCm39) missense probably damaging 0.96
R5556:Tmco3 UTSW 8 13,344,870 (GRCm39) missense probably damaging 0.99
R5826:Tmco3 UTSW 8 13,360,314 (GRCm39) missense probably damaging 0.99
R6586:Tmco3 UTSW 8 13,370,894 (GRCm39) utr 3 prime probably benign
R6858:Tmco3 UTSW 8 13,363,924 (GRCm39) missense probably damaging 1.00
R6867:Tmco3 UTSW 8 13,363,927 (GRCm39) missense probably damaging 1.00
R6944:Tmco3 UTSW 8 13,353,729 (GRCm39) missense probably damaging 1.00
R7082:Tmco3 UTSW 8 13,370,847 (GRCm39) nonsense probably null
R7192:Tmco3 UTSW 8 13,369,605 (GRCm39) splice site probably null
R7283:Tmco3 UTSW 8 13,369,605 (GRCm39) splice site probably null
R7285:Tmco3 UTSW 8 13,369,605 (GRCm39) splice site probably null
R7287:Tmco3 UTSW 8 13,369,605 (GRCm39) splice site probably null
R7314:Tmco3 UTSW 8 13,369,605 (GRCm39) splice site probably null
R7442:Tmco3 UTSW 8 13,370,781 (GRCm39) missense probably damaging 1.00
R8084:Tmco3 UTSW 8 13,353,873 (GRCm39) missense probably damaging 0.96
R8708:Tmco3 UTSW 8 13,345,998 (GRCm39) missense probably benign
R8755:Tmco3 UTSW 8 13,341,782 (GRCm39) missense probably benign
R9156:Tmco3 UTSW 8 13,360,228 (GRCm39) missense possibly damaging 0.79
R9226:Tmco3 UTSW 8 13,360,143 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCTCCTGAGGCAGAAGAATG -3'
(R):5'- CACCTCCTAGACGCAATGAG -3'

Sequencing Primer
(F):5'- TGTGGTCCTCAACAAACTGAAG -3'
(R):5'- TCCTAGACGCAATGAGGGCAC -3'
Posted On 2018-02-27