Incidental Mutation 'R6530:Ttc33'
ID 522293
Institutional Source Beutler Lab
Gene Symbol Ttc33
Ensembl Gene ENSMUSG00000022151
Gene Name tetratricopeptide repeat domain 33
Synonyms 2900001O04Rik, 2410099M07Rik
MMRRC Submission 044656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6530 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 5215006-5247817 bp(+) (GRCm39)
Type of Mutation splice site (79 bp from exon)
DNA Base Change (assembly) A to G at 5241603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022751] [ENSMUST00000081640] [ENSMUST00000118193] [ENSMUST00000141167] [ENSMUST00000144653]
AlphaFold Q9D6K7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022751
AA Change: I143V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022751
Gene: ENSMUSG00000022151
AA Change: I143V

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:TPR_11 57 124 2e-13 PFAM
Pfam:TPR_2 61 92 1.4e-5 PFAM
Pfam:TPR_1 127 160 8.7e-4 PFAM
Pfam:TPR_2 127 160 6.7e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081640
SMART Domains Protein: ENSMUSP00000080345
Gene: ENSMUSG00000022151

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118193
AA Change: I143V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114033
Gene: ENSMUSG00000022151
AA Change: I143V

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:TPR_11 57 124 7.6e-13 PFAM
Pfam:TPR_2 61 92 1.4e-5 PFAM
Pfam:TPR_2 127 160 6.6e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133966
Predicted Effect probably null
Transcript: ENSMUST00000141167
SMART Domains Protein: ENSMUSP00000121937
Gene: ENSMUSG00000022151

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:TPR_11 57 116 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144653
AA Change: I143V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122250
Gene: ENSMUSG00000022151
AA Change: I143V

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:TPR_9 55 103 3.2e-2 PFAM
Pfam:TPR_11 57 124 1.5e-13 PFAM
Pfam:TPR_2 60 92 1.3e-5 PFAM
Pfam:TPR_9 101 163 1.4e-3 PFAM
Pfam:TPR_1 127 160 7.9e-4 PFAM
Pfam:TPR_2 127 160 6.3e-4 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,746,039 (GRCm39) L74P possibly damaging Het
Adamtsl4 T C 3: 95,588,364 (GRCm39) T575A probably benign Het
Adck5 T G 15: 76,478,047 (GRCm39) D224E probably benign Het
Asic4 A G 1: 75,448,979 (GRCm39) N376S probably damaging Het
Atl3 T A 19: 7,499,499 (GRCm39) D254E probably benign Het
Cacnb2 G T 2: 14,979,978 (GRCm39) A274S probably damaging Het
Car2 T C 3: 14,961,791 (GRCm39) V159A probably benign Het
Ccdc138 G C 10: 58,380,790 (GRCm39) G474R probably damaging Het
Coq7 T C 7: 118,124,558 (GRCm39) T203A probably benign Het
Dnah12 T C 14: 26,456,865 (GRCm39) I877T probably damaging Het
Dnah7a C T 1: 53,542,856 (GRCm39) R2438H probably benign Het
Efhc1 T A 1: 21,031,366 (GRCm39) probably null Het
Fbn1 G A 2: 125,231,190 (GRCm39) R459C probably damaging Het
Fer1l4 A G 2: 155,889,785 (GRCm39) probably null Het
Gm5114 G A 7: 39,057,514 (GRCm39) P702S probably damaging Het
Inpp5f T A 7: 128,265,802 (GRCm39) Y182* probably null Het
Irf6 C T 1: 192,839,657 (GRCm39) T44M probably damaging Het
Loxhd1 A G 18: 77,499,847 (GRCm39) N87S probably benign Het
Mtrf1 A T 14: 79,640,331 (GRCm39) Q162L possibly damaging Het
Myoz3 G T 18: 60,712,592 (GRCm39) probably null Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nkd2 C T 13: 73,970,809 (GRCm39) G258R probably null Het
Or8k27 A C 2: 86,275,826 (GRCm39) S167A probably benign Het
Parg T C 14: 31,931,156 (GRCm39) S176P probably damaging Het
Prdm2 A C 4: 142,860,617 (GRCm39) V891G probably benign Het
Rasl10a T A 11: 5,008,367 (GRCm39) I21N probably damaging Het
Reg4 T C 3: 98,132,148 (GRCm39) V20A probably benign Het
Shprh T A 10: 11,070,011 (GRCm39) S1462R probably benign Het
Spmip1 G A 6: 29,471,950 (GRCm39) probably null Het
Sult1e1 T C 5: 87,724,147 (GRCm39) E270G probably benign Het
Trpm7 A C 2: 126,654,631 (GRCm39) F1436V probably damaging Het
Ucp2 A T 7: 100,147,430 (GRCm39) E161D probably benign Het
Vmn2r79 T C 7: 86,651,252 (GRCm39) F217S possibly damaging Het
Wdr93 G A 7: 79,405,741 (GRCm39) A207T probably damaging Het
Zbed6 A G 1: 133,586,939 (GRCm39) S133P probably damaging Het
Zfp949 T C 9: 88,449,340 (GRCm39) probably null Het
Other mutations in Ttc33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ttc33 APN 15 5,246,809 (GRCm39) missense probably damaging 1.00
IGL03240:Ttc33 APN 15 5,246,809 (GRCm39) missense probably damaging 1.00
R1603:Ttc33 UTSW 15 5,219,275 (GRCm39) missense probably damaging 1.00
R1750:Ttc33 UTSW 15 5,241,579 (GRCm39) nonsense probably null
R2115:Ttc33 UTSW 15 5,241,534 (GRCm39) missense probably benign 0.04
R2209:Ttc33 UTSW 15 5,237,924 (GRCm39) missense possibly damaging 0.47
R6971:Ttc33 UTSW 15 5,241,523 (GRCm39) missense probably damaging 1.00
R7120:Ttc33 UTSW 15 5,241,488 (GRCm39) missense probably benign 0.00
R7264:Ttc33 UTSW 15 5,246,718 (GRCm39) nonsense probably null
R7821:Ttc33 UTSW 15 5,241,506 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCATGGAAATGCTGTGTGAC -3'
(R):5'- TCTAAGGCAACAAAGTGCAGTAAC -3'

Sequencing Primer
(F):5'- GATTACCAACCAGTAGTTTGTCAG -3'
(R):5'- TGCAGTAACAGGGTGGGGTAC -3'
Posted On 2018-06-06