Incidental Mutation 'R6363:Ttc36'
ID 531266
Institutional Source Beutler Lab
Gene Symbol Ttc36
Ensembl Gene ENSMUSG00000039438
Gene Name tetratricopeptide repeat domain 36
Synonyms
MMRRC Submission 044513-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6363 (G1)
Quality Score 79.0075
Status Validated
Chromosome 9
Chromosomal Location 44710697-44714248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44710936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 131 (R131S)
Ref Sequence ENSEMBL: ENSMUSP00000042183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044694]
AlphaFold Q8VBW8
Predicted Effect probably damaging
Transcript: ENSMUST00000044694
AA Change: R131S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042183
Gene: ENSMUSG00000039438
AA Change: R131S

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:TPR_11 46 112 2.1e-13 PFAM
Pfam:TPR_9 54 123 5.8e-7 PFAM
Pfam:TPR_1 82 113 2.3e-6 PFAM
Pfam:TPR_2 82 114 1.2e-5 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit normal reproduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 A G 4: 111,423,982 (GRCm39) probably benign Het
Antxrl G T 14: 33,791,244 (GRCm39) C379F probably damaging Het
Camsap3 T C 8: 3,651,971 (GRCm39) C256R probably damaging Het
Ccdc33 T C 9: 58,021,618 (GRCm39) E254G probably benign Het
Ccndbp1 C T 2: 120,843,454 (GRCm39) P282L probably damaging Het
Col5a1 C T 2: 27,818,207 (GRCm39) T144I unknown Het
Csmd2 A T 4: 128,294,172 (GRCm39) H1167L probably benign Het
Ctsk A T 3: 95,408,862 (GRCm39) T82S probably damaging Het
Cyp3a41b A T 5: 145,507,197 (GRCm39) F248I probably damaging Het
Dchs1 A G 7: 105,407,679 (GRCm39) I2051T probably benign Het
Dnah17 A G 11: 118,001,331 (GRCm39) F871L probably benign Het
Eif2b4 A G 5: 31,348,583 (GRCm39) V210A probably damaging Het
Eral1 A G 11: 77,965,143 (GRCm39) I385T probably damaging Het
Ercc8 T C 13: 108,320,404 (GRCm39) L330P probably damaging Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fcrl1 A T 3: 87,292,475 (GRCm39) I156F probably damaging Het
Gm7298 A G 6: 121,765,565 (GRCm39) Y1465C probably damaging Het
Gpr17 A G 18: 32,080,625 (GRCm39) L146P probably damaging Het
Gpr171 A G 3: 59,005,313 (GRCm39) I154T possibly damaging Het
Hid1 T A 11: 115,243,422 (GRCm39) Y542F probably damaging Het
Hspa8 T C 9: 40,714,361 (GRCm39) V219A probably damaging Het
Klhl24 C T 16: 19,938,933 (GRCm39) T496I possibly damaging Het
Krtcap2 T C 3: 89,156,413 (GRCm39) S64P probably damaging Het
Msh3 C A 13: 92,349,032 (GRCm39) D1066Y probably damaging Het
Naaladl2 C T 3: 24,389,481 (GRCm39) G323R possibly damaging Het
Nbas A G 12: 13,532,577 (GRCm39) T1762A probably benign Het
Nr4a1 C T 15: 101,171,996 (GRCm39) R557C probably damaging Het
Ogfrl1 T A 1: 23,409,194 (GRCm39) H344L probably benign Het
Or13a25 T A 7: 140,247,995 (GRCm39) F265Y possibly damaging Het
Or5a1 T A 19: 12,097,530 (GRCm39) H182L possibly damaging Het
Or5p55 A G 7: 107,566,957 (GRCm39) M118V possibly damaging Het
Or9k7 A C 10: 130,046,906 (GRCm39) V31G possibly damaging Het
Orm2 G A 4: 63,280,841 (GRCm39) probably null Het
Patj T A 4: 98,320,097 (GRCm39) S455T probably benign Het
Pdgfra G T 5: 75,331,497 (GRCm39) V336L possibly damaging Het
Prkaa1 T C 15: 5,206,437 (GRCm39) L431S probably damaging Het
Ptgfrn A G 3: 100,952,894 (GRCm39) V780A possibly damaging Het
Rb1 A T 14: 73,525,081 (GRCm39) V184E probably benign Het
Rev1 T A 1: 38,110,570 (GRCm39) H560L probably damaging Het
Serpinb13 A T 1: 106,928,504 (GRCm39) R375* probably null Het
Slc8a2 C A 7: 15,867,970 (GRCm39) D67E probably benign Het
Sos2 A T 12: 69,678,885 (GRCm39) N307K probably benign Het
Srgap2 G A 1: 131,226,206 (GRCm39) R36W probably damaging Het
Tas2r119 G T 15: 32,178,034 (GRCm39) W200L possibly damaging Het
Tep1 T G 14: 51,062,005 (GRCm39) K2575T probably benign Het
Ttyh3 A T 5: 140,620,979 (GRCm39) L195Q probably damaging Het
Uba7 G A 9: 107,857,382 (GRCm39) probably null Het
Utp20 A C 10: 88,592,942 (GRCm39) V2249G probably damaging Het
Wwc2 A T 8: 48,340,197 (GRCm39) probably null Het
Zdhhc21 A T 4: 82,765,911 (GRCm39) V8D probably damaging Het
Zfp719 A G 7: 43,239,290 (GRCm39) T293A probably benign Het
Other mutations in Ttc36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Ttc36 APN 9 44,712,887 (GRCm39) splice site probably null
F5770:Ttc36 UTSW 9 44,713,094 (GRCm39) unclassified probably benign
R1856:Ttc36 UTSW 9 44,714,051 (GRCm39) missense probably benign 0.12
R8017:Ttc36 UTSW 9 44,710,898 (GRCm39) missense probably damaging 0.97
R9640:Ttc36 UTSW 9 44,714,034 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCGGAAGTTTTATTGGGTCC -3'
(R):5'- AAAAGTCTGCTGCACGAAGG -3'

Sequencing Primer
(F):5'- TCCATCATTCGGCCGGC -3'
(R):5'- GATGGGCTGCTCTGCTC -3'
Posted On 2018-08-21