Incidental Mutation 'IGL03034:Ttc34'
ID408580
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: 0.206) question?
Stock #IGL03034
Quality Score
Status
Chromosome4
Chromosomal Location154837459-154867127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 154861183 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 734 (S734P)
Ref Sequence ENSEMBL: ENSMUSP00000146409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050220] [ENSMUST00000207854]
Predicted Effect probably damaging
Transcript: ENSMUST00000050220
AA Change: S225P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051782
Gene: ENSMUSG00000046637
AA Change: S225P

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 noncoding transcript
Transcript: ENSMUST00000137684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151696
Predicted Effect probably damaging
Transcript: ENSMUST00000207854
AA Change: S734P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,890,082 probably benign Het
Ablim2 A G 5: 35,828,165 T269A probably benign Het
Asgr2 G T 11: 70,098,263 G178W probably damaging Het
Chtf18 A G 17: 25,727,346 probably benign Het
Cnmd C T 14: 79,641,928 A257T probably benign Het
Cox7a1 A G 7: 30,185,268 probably benign Het
Cpox C T 16: 58,675,355 T345M probably damaging Het
Crisp1 T C 17: 40,307,728 T81A probably benign Het
Dcc T A 18: 71,575,143 R501* probably null Het
Dlx6 A C 6: 6,863,807 Q143P probably benign Het
Dpp10 T A 1: 123,341,619 Y687F probably damaging Het
Eif2b1 A G 5: 124,571,831 V228A probably benign Het
Enpep T C 3: 129,298,950 D528G probably damaging Het
Fbxo6 G A 4: 148,146,122 Q228* probably null Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Kctd9 T A 14: 67,734,279 S268T probably benign Het
Kifap3 G A 1: 163,888,277 V749M probably benign Het
Mdm4 T C 1: 133,011,071 D94G probably damaging Het
Mllt10 T G 2: 18,065,036 M1R probably null Het
Mtcl1 T C 17: 66,344,198 Y1424C probably damaging Het
Mybpc2 A T 7: 44,511,897 I549N possibly damaging Het
Myocd T C 11: 65,218,685 T87A probably benign Het
Nr3c2 T G 8: 77,187,638 Y824* probably null Het
Olfr1270 A G 2: 90,149,833 Y58H probably damaging Het
Olfr1437 T C 19: 12,322,654 T58A possibly damaging Het
Olfr1447 T C 19: 12,901,757 T8A possibly damaging Het
Olfr551 G A 7: 102,587,940 H268Y probably benign Het
Olfr791 A T 10: 129,526,658 I144F probably benign Het
Omg T A 11: 79,502,121 T304S possibly damaging Het
Pde3a G A 6: 141,492,400 probably benign Het
Phf20l1 A G 15: 66,597,403 K129E probably damaging Het
Phka2 G T X: 160,577,550 E858* probably null Het
Pp2d1 T C 17: 53,508,053 T548A possibly damaging Het
Prr14l G A 5: 32,827,438 A1571V possibly damaging Het
Rbms3 A G 9: 117,251,811 probably benign Het
Sparcl1 T C 5: 104,093,237 E107G probably damaging Het
Stra6l A G 4: 45,885,392 D620G probably benign Het
Traf3ip2 A T 10: 39,626,219 K121I probably damaging Het
Zfp953 C T 13: 67,343,462 C142Y probably damaging Het
Zfp955b T A 17: 33,302,168 C204S probably benign Het
Other mutations in Ttc34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03000:Ttc34 APN 4 154865431 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