Incidental Mutation 'IGL03000:Ttc34'
ID 407281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc34
Ensembl Gene ENSMUSG00000046637
Gene Name tetratricopeptide repeat domain 34
Synonyms B230396O12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL03000
Quality Score
Status
Chromosome 4
Chromosomal Location 154921916-154951584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154949888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 947 (V947A)
Ref Sequence ENSEMBL: ENSMUSP00000146409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050220] [ENSMUST00000079269] [ENSMUST00000080559] [ENSMUST00000207854] [ENSMUST00000163732]
AlphaFold Q8C0Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050220
AA Change: V438A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051782
Gene: ENSMUSG00000046637
AA Change: V438A

DomainStartEndE-ValueType
Blast:TPR 38 68 4e-6 BLAST
low complexity region 69 85 N/A INTRINSIC
TPR 166 199 2.66e0 SMART
TPR 200 233 4.45e-2 SMART
TPR 294 327 9e1 SMART
Blast:TPR 328 361 2e-7 BLAST
TPR 412 445 8.77e1 SMART
TPR 452 485 1.78e-1 SMART
Blast:TPR 500 533 9e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000079269
SMART Domains Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 99 498 1.7e-135 PFAM
Pfam:Peptidase_M13 559 767 1.2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080559
SMART Domains Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 76 512 4.8e-131 PFAM
Pfam:Peptidase_M13 573 779 3.4e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151696
Predicted Effect probably damaging
Transcript: ENSMUST00000207854
AA Change: V947A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000163732
SMART Domains Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 99 498 1.7e-135 PFAM
Pfam:Peptidase_M13 559 765 3.3e-71 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript Het
Other mutations in Ttc34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Ttc34 APN 4 154,945,640 (GRCm39) missense probably damaging 1.00
IGL03139:Ttc34 APN 4 154,945,727 (GRCm39) missense probably benign 0.04
R1205:Ttc34 UTSW 4 154,946,671 (GRCm39) missense probably benign 0.01
R1775:Ttc34 UTSW 4 154,946,671 (GRCm39) missense probably benign 0.00
R1935:Ttc34 UTSW 4 154,950,139 (GRCm39) missense possibly damaging 0.80
R1936:Ttc34 UTSW 4 154,950,139 (GRCm39) missense possibly damaging 0.80
R1937:Ttc34 UTSW 4 154,950,139 (GRCm39) missense possibly damaging 0.80
R1939:Ttc34 UTSW 4 154,950,139 (GRCm39) missense possibly damaging 0.80
R1940:Ttc34 UTSW 4 154,950,139 (GRCm39) missense possibly damaging 0.80
R3701:Ttc34 UTSW 4 154,949,939 (GRCm39) missense probably damaging 1.00
R5181:Ttc34 UTSW 4 154,946,703 (GRCm39) missense probably benign 0.00
R5845:Ttc34 UTSW 4 154,949,929 (GRCm39) missense probably benign 0.08
R6603:Ttc34 UTSW 4 154,923,762 (GRCm39) missense probably benign 0.34
R6930:Ttc34 UTSW 4 154,923,543 (GRCm39) missense probably damaging 0.99
R7209:Ttc34 UTSW 4 154,923,585 (GRCm39) missense probably damaging 1.00
R7548:Ttc34 UTSW 4 154,940,816 (GRCm39) missense probably damaging 1.00
R7640:Ttc34 UTSW 4 154,945,841 (GRCm39) missense probably benign
R7727:Ttc34 UTSW 4 154,923,731 (GRCm39) missense possibly damaging 0.81
R7856:Ttc34 UTSW 4 154,945,743 (GRCm39) missense probably benign
R7893:Ttc34 UTSW 4 154,945,757 (GRCm39) missense probably benign 0.05
R7894:Ttc34 UTSW 4 154,943,840 (GRCm39) missense probably damaging 1.00
R7982:Ttc34 UTSW 4 154,945,875 (GRCm39) missense possibly damaging 0.89
R9462:Ttc34 UTSW 4 154,942,539 (GRCm39) missense probably damaging 1.00
Z1177:Ttc34 UTSW 4 154,949,854 (GRCm39) missense possibly damaging 0.73
Posted On 2016-08-02