Incidental Mutation 'R0385:Tmco3'
ID 31227
Institutional Source Beutler Lab
Gene Symbol Tmco3
Ensembl Gene ENSMUSG00000038497
Gene Name transmembrane and coiled-coil domains 3
Synonyms B230339H12Rik
MMRRC Submission 038591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0385 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13338190-13372924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 13346027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 288 (C288W)
Ref Sequence ENSEMBL: ENSMUSP00000040347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045229]
AlphaFold Q8BH01
Predicted Effect probably damaging
Transcript: ENSMUST00000045229
AA Change: C288W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: C288W

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 noncoding transcript
Transcript: ENSMUST00000210063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211645
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,122,574 (GRCm39) N331S probably benign Het
Adk A G 14: 21,368,142 (GRCm39) N189S probably benign Het
Apc T A 18: 34,448,997 (GRCm39) N1930K probably damaging Het
Arhgap28 T C 17: 68,171,601 (GRCm39) D391G probably damaging Het
Atn1 G T 6: 124,720,334 (GRCm39) probably benign Het
C2cd5 T C 6: 142,987,216 (GRCm39) E471G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cap2 T C 13: 46,714,023 (GRCm39) L34P probably damaging Het
Cdc42ep2 T A 19: 5,968,553 (GRCm39) M51L probably benign Het
Cntn5 C T 9: 9,972,875 (GRCm39) A254T probably damaging Het
Dicer1 A T 12: 104,670,433 (GRCm39) L1044H probably damaging Het
Dkk3 A C 7: 111,757,430 (GRCm39) M58R probably damaging Het
Dpy19l3 G A 7: 35,452,130 (GRCm39) R5W probably damaging Het
Dsg1c C T 18: 20,416,711 (GRCm39) P871S probably damaging Het
Dusp1 A T 17: 26,726,670 (GRCm39) S131T probably benign Het
Enpp2 C T 15: 54,745,555 (GRCm39) G314R probably damaging Het
Entr1 T C 2: 26,277,671 (GRCm39) E41G possibly damaging Het
Fam222b C A 11: 78,045,756 (GRCm39) P439Q probably benign Het
Fastkd2 A T 1: 63,776,970 (GRCm39) I369F probably benign Het
Fdps G A 3: 89,002,201 (GRCm39) S205F probably damaging Het
Fmo1 A T 1: 162,663,773 (GRCm39) V252E possibly damaging Het
Frmd5 A G 2: 121,386,055 (GRCm39) Y230H probably damaging Het
Gal C T 19: 3,461,171 (GRCm39) V88I probably benign Het
Gnptab T C 10: 88,272,387 (GRCm39) I1009T probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klhdc7a A T 4: 139,694,016 (GRCm39) D310E probably benign Het
Klk4 T C 7: 43,533,432 (GRCm39) M97T probably benign Het
Krt82 C T 15: 101,454,028 (GRCm39) V227M probably damaging Het
Lpp T C 16: 24,580,587 (GRCm39) V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,406,312 (GRCm39) probably null Het
Mcm10 T C 2: 5,008,965 (GRCm39) K335E possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myb T C 10: 21,030,611 (GRCm39) D62G possibly damaging Het
Nasp A T 4: 116,467,892 (GRCm39) N364K probably benign Het
Npsr1 A G 9: 24,224,573 (GRCm39) N317D probably damaging Het
Nup210 A G 6: 91,005,777 (GRCm39) V619A possibly damaging Het
Oser1 C T 2: 163,253,316 (GRCm39) probably null Het
Pcdhb4 T C 18: 37,442,268 (GRCm39) F526S probably damaging Het
Plekhh3 T C 11: 101,055,967 (GRCm39) N444S probably damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Pou2f2 G A 7: 24,815,501 (GRCm39) Q89* probably null Het
Ptprb A G 10: 116,186,083 (GRCm39) I1713V probably benign Het
Ptprd A G 4: 76,046,902 (GRCm39) Y442H probably damaging Het
Rad21 A T 15: 51,837,259 (GRCm39) I152N possibly damaging Het
Ralgapa1 A G 12: 55,723,823 (GRCm39) S1568P probably damaging Het
Rhag T A 17: 41,145,618 (GRCm39) V357E probably damaging Het
Rnf121 A T 7: 101,678,324 (GRCm39) D174E possibly damaging Het
Sf3b4 T C 3: 96,080,298 (GRCm39) Y16H probably damaging Het
Slc1a3 C T 15: 8,668,619 (GRCm39) V449I probably damaging Het
Slc20a2 A G 8: 23,058,409 (GRCm39) I648M probably benign Het
Slc25a25 T A 2: 32,307,834 (GRCm39) I254F probably damaging Het
Slit3 A G 11: 35,591,109 (GRCm39) H1307R probably damaging Het
Sorl1 C A 9: 41,943,205 (GRCm39) M890I probably damaging Het
Supt16 A C 14: 52,414,175 (GRCm39) M468R probably benign Het
Taf4b T C 18: 14,916,817 (GRCm39) S56P probably benign Het
Tapt1 T C 5: 44,375,443 (GRCm39) probably null Het
Tpcn2 A G 7: 144,830,911 (GRCm39) Y145H probably damaging Het
Ttn C T 2: 76,712,061 (GRCm39) probably benign Het
Usb1 G T 8: 96,071,946 (GRCm39) W215C probably damaging Het
Usp2 C G 9: 44,004,047 (GRCm39) T305R probably damaging Het
Vmn1r13 G A 6: 57,187,690 (GRCm39) S283N probably benign Het
Vps54 A G 11: 21,256,381 (GRCm39) K467E possibly damaging Het
Wnk2 G T 13: 49,221,604 (GRCm39) S1121Y probably damaging Het
Zbed6 A T 1: 133,584,522 (GRCm39) D938E probably damaging 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
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
R6200:Tmco3 UTSW 8 13,342,077 (GRCm39) splice site probably null
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'- TTCAGGGAGCTTGAACGAACAGAC -3'
(R):5'- ACTGACTGACAGCAGCTTGCATC -3'

Sequencing Primer
(F):5'- TCACTTAGAGCACAGCTTAAGG -3'
(R):5'- CTGACAGCAGCTTGCATCTATTTAG -3'
Posted On 2013-04-24