Incidental Mutation 'IGL03000:Ttc34'
ID407281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc34
Ensembl Gene ENSMUSG00000046637
Gene Nametetratricopeptide repeat domain 34
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03000
Quality Score
Status
Chromosome4
Chromosomal Location154837459-154867127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 154865431 bp
ZygosityHeterozygous
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] [ENSMUST00000163732] [ENSMUST00000207854]
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 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
Predicted Effect probably damaging
Transcript: ENSMUST00000207854
AA Change: V947A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Cpne7 T C 8: 123,126,696 F247L probably benign Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Dus2 C A 8: 106,048,684 T281N probably damaging Het
Gbx1 G T 5: 24,504,926 T307K probably benign Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Togaram2 T C 17: 71,717,370 S830P probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zkscan17 T C 11: 59,487,160 Y399C probably damaging Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Ttc34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Ttc34 APN 4 154861183 missense probably damaging 1.00
IGL03139:Ttc34 APN 4 154861270 missense probably benign 0.04
R1205:Ttc34 UTSW 4 154862214 missense probably benign 0.01
R1775:Ttc34 UTSW 4 154862214 missense probably benign 0.00
R1935:Ttc34 UTSW 4 154865682 missense possibly damaging 0.80
R1936:Ttc34 UTSW 4 154865682 missense possibly damaging 0.80
R1937:Ttc34 UTSW 4 154865682 missense possibly damaging 0.80
R1939:Ttc34 UTSW 4 154865682 missense possibly damaging 0.80
R1940:Ttc34 UTSW 4 154865682 missense possibly damaging 0.80
R3701:Ttc34 UTSW 4 154865482 missense probably damaging 1.00
R5181:Ttc34 UTSW 4 154862246 missense probably benign 0.00
R5845:Ttc34 UTSW 4 154865472 missense probably benign 0.08
R6603:Ttc34 UTSW 4 154839305 missense probably benign 0.34
R6930:Ttc34 UTSW 4 154839086 missense probably damaging 0.99
R7209:Ttc34 UTSW 4 154839128 missense probably damaging 1.00
R7548:Ttc34 UTSW 4 154856359 missense probably damaging 1.00
R7640:Ttc34 UTSW 4 154861384 missense probably benign
R7727:Ttc34 UTSW 4 154839274 missense possibly damaging 0.81
R7856:Ttc34 UTSW 4 154861286 missense probably benign
R7893:Ttc34 UTSW 4 154861300 missense probably benign 0.05
R7894:Ttc34 UTSW 4 154859383 missense probably damaging 1.00
R7939:Ttc34 UTSW 4 154861286 missense probably benign
R7976:Ttc34 UTSW 4 154861300 missense probably benign 0.05
R7977:Ttc34 UTSW 4 154859383 missense probably damaging 1.00
Z1177:Ttc34 UTSW 4 154865397 missense possibly damaging 0.73
Posted On2016-08-02