Incidental Mutation 'IGL01991:Tmcc2'
ID 182855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmcc2
Ensembl Gene ENSMUSG00000042066
Gene Name transmembrane and coiled-coil domains 2
Synonyms 1110063G11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL01991
Quality Score
Status
Chromosome 1
Chromosomal Location 132284053-132319019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132288830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 208 (I208V)
Ref Sequence ENSEMBL: ENSMUSP00000118844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045473] [ENSMUST00000132435] [ENSMUST00000142609]
AlphaFold Q80W04
Predicted Effect probably benign
Transcript: ENSMUST00000045473
AA Change: I286V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: I286V

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
low complexity region 89 99 N/A INTRINSIC
low complexity region 100 112 N/A INTRINSIC
low complexity region 164 183 N/A INTRINSIC
low complexity region 253 267 N/A INTRINSIC
Pfam:Tmemb_cc2 283 694 6.3e-178 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125439
Predicted Effect probably benign
Transcript: ENSMUST00000132435
AA Change: I208V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: I208V

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 86 105 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
Pfam:Tmemb_cc2 203 617 1.1e-193 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138717
Predicted Effect probably benign
Transcript: ENSMUST00000142609
AA Change: I51V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: I51V

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Tmemb_cc2 46 460 2.2e-194 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,608 (GRCm39) F145I probably benign Het
Acot7 A G 4: 152,307,536 (GRCm39) K152E possibly damaging Het
Adamts13 G T 2: 26,880,610 (GRCm39) G731V probably damaging Het
Als2cl C T 9: 110,721,985 (GRCm39) R584C probably benign Het
Apba1 T A 19: 23,914,836 (GRCm39) S679T possibly damaging Het
Asxl3 G A 18: 22,649,219 (GRCm39) V403I probably damaging Het
Card11 T C 5: 140,899,133 (GRCm39) T14A possibly damaging Het
Creb1 T C 1: 64,598,913 (GRCm39) F97L probably benign Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Crtac1 A T 19: 42,402,560 (GRCm39) L16Q possibly damaging Het
Cyp2c29 T C 19: 39,318,759 (GRCm39) I452T probably damaging Het
Dennd5b A T 6: 148,982,322 (GRCm39) D95E probably damaging Het
Dysf C T 6: 84,090,600 (GRCm39) P1002L probably damaging Het
Gm6878 G A 14: 67,543,678 (GRCm39) probably benign Het
Greb1 T C 12: 16,749,682 (GRCm39) Y1048C probably damaging Het
Iqcc T A 4: 129,511,582 (GRCm39) E105V probably benign Het
Lhx8 A G 3: 154,030,191 (GRCm39) L116P probably damaging Het
Lrrk2 A G 15: 91,664,149 (GRCm39) D1962G probably damaging Het
Map1b T A 13: 99,566,077 (GRCm39) M2215L unknown Het
Mapk8ip3 A T 17: 25,146,835 (GRCm39) L136Q possibly damaging Het
Mical3 T C 6: 120,912,172 (GRCm39) N1896D probably damaging Het
Mprip A G 11: 59,645,838 (GRCm39) E674G probably damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Or8j3 T C 2: 86,028,877 (GRCm39) N73S probably benign Het
Pdzrn4 T A 15: 92,299,807 (GRCm39) probably null Het
Pramel41 A T 5: 94,593,705 (GRCm39) Q10L probably benign Het
Prom1 T C 5: 44,204,848 (GRCm39) T209A probably benign Het
Prom2 C A 2: 127,371,142 (GRCm39) C785F probably damaging Het
Psg20 T C 7: 18,418,350 (GRCm39) Q139R probably benign Het
Rapgef6 T A 11: 54,443,695 (GRCm39) C93S probably benign Het
Rassf2 C T 2: 131,842,352 (GRCm39) probably null Het
Scn11a A G 9: 119,648,970 (GRCm39) I31T probably damaging Het
Slc4a5 A T 6: 83,240,525 (GRCm39) D164V possibly damaging Het
Slco3a1 T C 7: 73,934,144 (GRCm39) D676G possibly damaging Het
Traf4 T C 11: 78,050,872 (GRCm39) D428G possibly damaging Het
Trio T C 15: 27,871,360 (GRCm39) I586V possibly damaging Het
Unc80 T A 1: 66,508,668 (GRCm39) C46* probably null Het
Vmn2r89 A G 14: 51,689,676 (GRCm39) N60D probably benign Het
Wscd1 A T 11: 71,678,549 (GRCm39) K391* probably null Het
Wwc2 A T 8: 48,322,901 (GRCm39) L400* probably null Het
Other mutations in Tmcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Tmcc2 APN 1 132,308,436 (GRCm39) missense probably benign
IGL02259:Tmcc2 APN 1 132,288,898 (GRCm39) missense probably benign
IGL02310:Tmcc2 APN 1 132,286,645 (GRCm39) missense probably damaging 1.00
IGL02551:Tmcc2 APN 1 132,285,317 (GRCm39) missense probably damaging 1.00
IGL03301:Tmcc2 APN 1 132,288,557 (GRCm39) missense possibly damaging 0.95
IGL03347:Tmcc2 APN 1 132,285,390 (GRCm39) missense probably damaging 1.00
R0131:Tmcc2 UTSW 1 132,308,444 (GRCm39) missense probably benign 0.10
R0233:Tmcc2 UTSW 1 132,288,389 (GRCm39) missense probably damaging 0.99
R0233:Tmcc2 UTSW 1 132,288,389 (GRCm39) missense probably damaging 0.99
R1146:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R1146:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R1538:Tmcc2 UTSW 1 132,308,718 (GRCm39) missense probably damaging 0.98
R2428:Tmcc2 UTSW 1 132,288,569 (GRCm39) missense probably damaging 1.00
R3907:Tmcc2 UTSW 1 132,288,376 (GRCm39) missense probably damaging 1.00
R4890:Tmcc2 UTSW 1 132,308,517 (GRCm39) missense probably benign 0.43
R5364:Tmcc2 UTSW 1 132,285,534 (GRCm39) missense probably damaging 1.00
R5567:Tmcc2 UTSW 1 132,285,543 (GRCm39) missense probably benign 0.01
R5596:Tmcc2 UTSW 1 132,288,221 (GRCm39) missense probably damaging 1.00
R5916:Tmcc2 UTSW 1 132,285,429 (GRCm39) missense probably damaging 0.98
R5931:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R6278:Tmcc2 UTSW 1 132,286,720 (GRCm39) missense probably damaging 0.99
R7404:Tmcc2 UTSW 1 132,288,759 (GRCm39) missense probably damaging 0.98
R7806:Tmcc2 UTSW 1 132,288,527 (GRCm39) missense probably damaging 1.00
R7848:Tmcc2 UTSW 1 132,288,359 (GRCm39) missense probably damaging 1.00
R7903:Tmcc2 UTSW 1 132,288,199 (GRCm39) missense probably benign 0.00
R9458:Tmcc2 UTSW 1 132,286,747 (GRCm39) missense probably damaging 1.00
RF012:Tmcc2 UTSW 1 132,288,756 (GRCm39) missense probably damaging 1.00
X0052:Tmcc2 UTSW 1 132,288,071 (GRCm39) missense probably benign
Posted On 2014-05-07