Incidental Mutation 'IGL01612:Trim12c'
ID92147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim12c
Ensembl Gene ENSMUSG00000057143
Gene Nametripartite motif-containing 12C
SynonymsTrim12-2, 9230105E10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01612
Quality Score
Status
Chromosome7
Chromosomal Location104338754-104353362 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104348215 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 45 (S45T)
Ref Sequence ENSEMBL: ENSMUSP00000116775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059037] [ENSMUST00000130139]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059037
AA Change: S45T

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
AA Change: S45T

DomainStartEndE-ValueType
RING 15 58 5.51e-7 SMART
BBOX 91 132 4.83e-12 SMART
low complexity region 196 209 N/A INTRINSIC
Pfam:SPRY 351 493 8.7e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130139
AA Change: S45T

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
AA Change: S45T

DomainStartEndE-ValueType
RING 15 58 5.51e-7 SMART
BBOX 91 132 4.83e-12 SMART
low complexity region 196 209 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,031 T1326A possibly damaging Het
Afg3l1 C T 8: 123,494,853 R484C probably benign Het
Atg2a C A 19: 6,252,484 Q946K probably benign Het
Cdh20 T C 1: 104,994,170 Y731H probably benign Het
Cdk15 A G 1: 59,289,773 D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,018 S1073P probably damaging Het
Dnah2 T C 11: 69,465,063 probably benign Het
Evi2a T A 11: 79,527,152 R211W probably damaging Het
Fmo1 T A 1: 162,833,599 I372F probably benign Het
Glyctk T C 9: 106,155,272 D514G probably damaging Het
Gmnc G A 16: 26,960,319 Q313* probably null Het
Grik1 T C 16: 87,946,735 T520A probably damaging Het
Gtsf2 A T 15: 103,444,913 C9S probably damaging Het
Ift80 T G 3: 68,963,663 N200T possibly damaging Het
Ints1 A G 5: 139,756,292 S1771P probably benign Het
Lrba A G 3: 86,776,177 T2769A possibly damaging Het
Lrfn2 G T 17: 49,070,397 V169L possibly damaging Het
Mei1 G A 15: 82,089,552 R80H probably damaging Het
Nbeal2 A T 9: 110,644,678 V31E probably damaging Het
Ncapd2 G T 6: 125,177,872 P546T probably benign Het
Olfr685 A G 7: 105,180,722 V212A probably damaging Het
Pan3 T C 5: 147,453,242 probably benign Het
Rab3b T A 4: 108,924,026 probably null Het
Rabl2 T C 15: 89,583,412 K119E probably benign Het
Reln A G 5: 21,896,930 V3334A probably damaging Het
Rfx1 A G 8: 84,092,972 probably null Het
Rhod T C 19: 4,426,219 Y168C probably damaging Het
Sag T C 1: 87,805,349 I13T probably damaging Het
Sat2 T C 11: 69,622,963 probably null Het
Scn5a A T 9: 119,486,025 D1872E possibly damaging Het
Sh2b2 T G 5: 136,231,802 I187L probably benign Het
Slit3 G A 11: 35,700,384 G1341D possibly damaging Het
Tmed11 A T 5: 108,779,884 S95T possibly damaging Het
Tmem186 A G 16: 8,635,869 V176A possibly damaging Het
Ube4b C A 4: 149,383,818 R167L probably damaging Het
Zfp335 A T 2: 164,910,620 probably null Het
Other mutations in Trim12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Trim12c APN 7 104345054 nonsense probably null
IGL01737:Trim12c APN 7 104348062 missense probably damaging 1.00
IGL02184:Trim12c APN 7 104348223 missense probably benign 0.00
IGL02309:Trim12c APN 7 104344956 missense possibly damaging 0.72
IGL02323:Trim12c APN 7 104348266 missense probably benign 0.00
IGL02656:Trim12c APN 7 104341203 missense probably damaging 1.00
R0127:Trim12c UTSW 7 104340906 splice site probably null
R0554:Trim12c UTSW 7 104344962 missense probably damaging 0.96
R1480:Trim12c UTSW 7 104348244 missense probably damaging 1.00
R1501:Trim12c UTSW 7 104340888 unclassified probably benign
R2058:Trim12c UTSW 7 104348191 missense possibly damaging 0.81
R2059:Trim12c UTSW 7 104348191 missense possibly damaging 0.81
R3838:Trim12c UTSW 7 104340868 unclassified probably benign
R3870:Trim12c UTSW 7 104348337 missense probably benign 0.00
R4896:Trim12c UTSW 7 104340948 missense probably damaging 0.99
R6288:Trim12c UTSW 7 104346729 missense probably benign 0.19
R6522:Trim12c UTSW 7 104348324 missense probably benign 0.38
R6562:Trim12c UTSW 7 104345134 splice site probably null
R6801:Trim12c UTSW 7 104348130 missense probably damaging 1.00
R7016:Trim12c UTSW 7 104348206 missense
R7811:Trim12c UTSW 7 104341262 missense unknown
R8076:Trim12c UTSW 7 104340830 missense unknown
R8147:Trim12c UTSW 7 104341958 missense unknown
X0062:Trim12c UTSW 7 104346680 missense probably benign 0.13
Z1176:Trim12c UTSW 7 104341136 missense unknown
Posted On2013-12-09