Incidental Mutation 'IGL00976:Ttc39c'
ID 29460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc39c
Ensembl Gene ENSMUSG00000024424
Gene Name tetratricopeptide repeat domain 39C
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL00976
Quality Score
Status
Chromosome 18
Chromosomal Location 12599926-12737050 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 12684895 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025294] [ENSMUST00000169401]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025294
SMART Domains Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424

DomainStartEndE-ValueType
Pfam:DUF3808 31 495 7.3e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141060
Predicted Effect probably benign
Transcript: ENSMUST00000169401
SMART Domains Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424

DomainStartEndE-ValueType
Pfam:DUF3808 1 437 1.6e-134 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in Ttc39c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Ttc39c APN 18 12736743 missense probably null 0.79
R1628:Ttc39c UTSW 18 12734879 splice site probably benign
R1771:Ttc39c UTSW 18 12684824 splice site probably null
R2002:Ttc39c UTSW 18 12697878 splice site probably null
R4162:Ttc39c UTSW 18 12724937 critical splice acceptor site probably null
R4344:Ttc39c UTSW 18 12728610 splice site probably null
R4484:Ttc39c UTSW 18 12730069 missense possibly damaging 0.90
R4752:Ttc39c UTSW 18 12728725 missense probably benign 0.05
R4872:Ttc39c UTSW 18 12687116 intron probably benign
R4912:Ttc39c UTSW 18 12734894 missense probably benign 0.00
R4946:Ttc39c UTSW 18 12724942 nonsense probably null
R5036:Ttc39c UTSW 18 12687081 critical splice donor site probably null
R5439:Ttc39c UTSW 18 12695371 missense possibly damaging 0.88
R5726:Ttc39c UTSW 18 12697935 missense probably damaging 1.00
R7213:Ttc39c UTSW 18 12687081 critical splice donor site probably null
R7400:Ttc39c UTSW 18 12643799 intron probably benign
R7413:Ttc39c UTSW 18 12728689 missense possibly damaging 0.65
R7567:Ttc39c UTSW 18 12689879 missense probably benign 0.01
R7979:Ttc39c UTSW 18 12732965 missense probably benign
R8769:Ttc39c UTSW 18 12695488 missense probably damaging 1.00
R8824:Ttc39c UTSW 18 12686946 splice site probably benign
R8827:Ttc39c UTSW 18 12695379 missense probably benign
R8855:Ttc39c UTSW 18 12697946 missense probably benign 0.30
R8866:Ttc39c UTSW 18 12697946 missense probably benign 0.30
R8996:Ttc39c UTSW 18 12687079 missense probably benign 0.00
R9349:Ttc39c UTSW 18 12689875 nonsense probably null
R9356:Ttc39c UTSW 18 12720045 critical splice donor site probably null
R9797:Ttc39c UTSW 18 12695485 missense probably damaging 1.00
Z1088:Ttc39c UTSW 18 12686963 missense possibly damaging 0.90
Posted On 2013-04-17