Incidental Mutation 'R9640:Ttc36'
ID 725928
Institutional Source Beutler Lab
Gene Symbol Ttc36
Ensembl Gene ENSMUSG00000039438
Gene Name tetratricopeptide repeat domain 36
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9640 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44710697-44714248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44714034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 28 (L28Q)
Ref Sequence ENSEMBL: ENSMUSP00000042183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002095] [ENSMUST00000002100] [ENSMUST00000044694] [ENSMUST00000114689] [ENSMUST00000114705] [ENSMUST00000132020] [ENSMUST00000213203] [ENSMUST00000213363] [ENSMUST00000213972] [ENSMUST00000214431] [ENSMUST00000214833]
AlphaFold Q8VBW8
Predicted Effect probably benign
Transcript: ENSMUST00000002095
SMART Domains Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 41 102 N/A INTRINSIC
PDB:3U88|N 103 151 6e-15 PDB
AT_hook 171 183 2.12e2 SMART
AT_hook 217 229 4.68e1 SMART
AT_hook 298 310 2.8e0 SMART
coiled coil region 366 394 N/A INTRINSIC
low complexity region 450 489 N/A INTRINSIC
low complexity region 524 535 N/A INTRINSIC
low complexity region 544 574 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 660 674 N/A INTRINSIC
low complexity region 717 732 N/A INTRINSIC
low complexity region 760 790 N/A INTRINSIC
low complexity region 866 892 N/A INTRINSIC
low complexity region 989 1005 N/A INTRINSIC
Pfam:zf-CXXC 1144 1191 1.1e-15 PFAM
low complexity region 1204 1233 N/A INTRINSIC
low complexity region 1236 1283 N/A INTRINSIC
low complexity region 1295 1316 N/A INTRINSIC
low complexity region 1323 1345 N/A INTRINSIC
low complexity region 1353 1366 N/A INTRINSIC
PHD 1432 1479 5.57e-3 SMART
PHD 1480 1530 1.17e-10 SMART
PHD 1567 1624 7.94e-8 SMART
BROMO 1632 1766 2.24e-10 SMART
low complexity region 1816 1850 N/A INTRINSIC
PHD 1931 1977 1.74e-4 SMART
low complexity region 1990 2001 N/A INTRINSIC
FYRN 2029 2072 2.33e-20 SMART
low complexity region 2180 2194 N/A INTRINSIC
low complexity region 2215 2227 N/A INTRINSIC
low complexity region 2607 2618 N/A INTRINSIC
low complexity region 2789 2800 N/A INTRINSIC
low complexity region 2824 2833 N/A INTRINSIC
low complexity region 2856 2878 N/A INTRINSIC
low complexity region 2902 2909 N/A INTRINSIC
low complexity region 3115 3141 N/A INTRINSIC
low complexity region 3164 3175 N/A INTRINSIC
low complexity region 3228 3239 N/A INTRINSIC
low complexity region 3299 3312 N/A INTRINSIC
low complexity region 3342 3351 N/A INTRINSIC
low complexity region 3405 3419 N/A INTRINSIC
low complexity region 3498 3526 N/A INTRINSIC
low complexity region 3620 3633 N/A INTRINSIC
FYRC 3662 3747 8.54e-37 SMART
SET 3823 3945 6.09e-45 SMART
PostSET 3947 3963 1.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000002100
SMART Domains Protein: ENSMUSP00000002100
Gene: ENSMUSG00000002032

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
Pfam:C2-set_2 26 118 2.7e-14 PFAM
SCOP:d1ie5a_ 121 220 2e-6 SMART
transmembrane domain 238 260 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000044694
AA Change: L28Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042183
Gene: ENSMUSG00000039438
AA Change: L28Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000114689
SMART Domains Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 41 102 N/A INTRINSIC
PDB:3U88|N 103 151 6e-15 PDB
AT_hook 171 183 2.12e2 SMART
AT_hook 217 229 4.68e1 SMART
AT_hook 298 310 2.8e0 SMART
coiled coil region 366 394 N/A INTRINSIC
low complexity region 450 489 N/A INTRINSIC
low complexity region 524 535 N/A INTRINSIC
low complexity region 544 574 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 660 674 N/A INTRINSIC
low complexity region 717 732 N/A INTRINSIC
low complexity region 760 790 N/A INTRINSIC
low complexity region 866 892 N/A INTRINSIC
low complexity region 989 1005 N/A INTRINSIC
Pfam:zf-CXXC 1144 1191 1.1e-15 PFAM
low complexity region 1204 1233 N/A INTRINSIC
low complexity region 1236 1283 N/A INTRINSIC
low complexity region 1295 1316 N/A INTRINSIC
low complexity region 1323 1345 N/A INTRINSIC
low complexity region 1353 1366 N/A INTRINSIC
PHD 1432 1479 5.57e-3 SMART
PHD 1480 1530 1.17e-10 SMART
PHD 1567 1627 9.12e-8 SMART
BROMO 1635 1769 2.24e-10 SMART
low complexity region 1819 1853 N/A INTRINSIC
PHD 1934 1980 1.74e-4 SMART
low complexity region 1993 2004 N/A INTRINSIC
FYRN 2032 2075 2.33e-20 SMART
low complexity region 2183 2197 N/A INTRINSIC
low complexity region 2218 2230 N/A INTRINSIC
low complexity region 2610 2621 N/A INTRINSIC
low complexity region 2792 2803 N/A INTRINSIC
low complexity region 2827 2836 N/A INTRINSIC
low complexity region 2859 2881 N/A INTRINSIC
low complexity region 2905 2912 N/A INTRINSIC
low complexity region 3118 3144 N/A INTRINSIC
low complexity region 3167 3178 N/A INTRINSIC
low complexity region 3231 3242 N/A INTRINSIC
low complexity region 3302 3315 N/A INTRINSIC
low complexity region 3345 3354 N/A INTRINSIC
low complexity region 3408 3422 N/A INTRINSIC
low complexity region 3501 3529 N/A INTRINSIC
low complexity region 3623 3636 N/A INTRINSIC
FYRC 3665 3750 8.54e-37 SMART
SET 3826 3948 6.09e-45 SMART
PostSET 3950 3966 1.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114705
SMART Domains Protein: ENSMUSP00000110353
Gene: ENSMUSG00000002032

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
Pfam:C2-set_2 26 118 2.2e-15 PFAM
SCOP:d1ie5a_ 121 220 2e-6 SMART
transmembrane domain 238 260 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132020
Predicted Effect probably benign
Transcript: ENSMUST00000213203
Predicted Effect probably benign
Transcript: ENSMUST00000213363
Predicted Effect probably benign
Transcript: ENSMUST00000213972
Predicted Effect probably benign
Transcript: ENSMUST00000214431
Predicted Effect probably benign
Transcript: ENSMUST00000214833
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T C 16: 14,436,589 (GRCm39) V214A Het
A830018L16Rik A G 1: 12,021,200 (GRCm39) K403R probably damaging Het
Aadacl4fm4 T A 4: 144,412,809 (GRCm39) R44W possibly damaging Het
Abhd17c A T 7: 83,800,814 (GRCm39) L80Q probably damaging Het
Adam30 T A 3: 98,069,620 (GRCm39) D484E probably damaging Het
Aspm T A 1: 139,408,010 (GRCm39) V2299E possibly damaging Het
Atp6v1c1 C T 15: 38,689,381 (GRCm39) R281W probably damaging Het
Bclaf1 T C 10: 20,201,553 (GRCm39) probably null Het
Ccdc50 T C 16: 27,225,461 (GRCm39) V58A probably damaging Het
Cep162 A G 9: 87,126,352 (GRCm39) S187P probably benign Het
Clip4 C T 17: 72,163,264 (GRCm39) T612M possibly damaging Het
Corin C T 5: 72,592,597 (GRCm39) V267I probably benign Het
Cyp2c37 T A 19: 40,000,180 (GRCm39) I434K probably benign Het
Ddx43 T G 9: 78,303,389 (GRCm39) D76E probably benign Het
Dusp5 A G 19: 53,526,051 (GRCm39) E231G probably damaging Het
Fam114a1 G A 5: 65,166,394 (GRCm39) V242I probably damaging Het
Frem1 T A 4: 82,831,896 (GRCm39) R1973S probably benign Het
Gas2l3 A T 10: 89,266,774 (GRCm39) D55E probably damaging Het
Grwd1 T C 7: 45,477,303 (GRCm39) I195V probably benign Het
H2-M1 G T 17: 36,983,031 (GRCm39) T20K probably benign Het
H2-Q2 T G 17: 35,562,206 (GRCm39) L151R probably damaging Het
Hbegf T C 18: 36,640,643 (GRCm39) Y138C probably damaging Het
Hectd1 C A 12: 51,795,197 (GRCm39) E2411* probably null Het
Igkv11-125 T A 6: 67,890,783 (GRCm39) S34T possibly damaging Het
Jam2 A T 16: 84,609,960 (GRCm39) T191S probably benign Het
Kcnh8 T C 17: 53,185,089 (GRCm39) I457T probably damaging Het
Khk A G 5: 31,079,303 (GRCm39) D15G probably damaging Het
Lrba T A 3: 86,526,875 (GRCm39) Y2244* probably null Het
Lrp1b T C 2: 41,078,929 (GRCm39) N1841S Het
Lrp4 A G 2: 91,316,296 (GRCm39) T805A probably benign Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Map3k1 A T 13: 111,900,699 (GRCm39) L442* probably null Het
Mapk8ip3 T C 17: 25,155,647 (GRCm39) N61S possibly damaging Het
Matcap2 A T 9: 22,351,228 (GRCm39) I457L possibly damaging Het
Mdn1 T A 4: 32,754,539 (GRCm39) V4685E probably damaging Het
Mib2 T C 4: 155,745,325 (GRCm39) E134G possibly damaging Het
Mtss2 T C 8: 111,464,575 (GRCm39) V403A probably benign Het
Ndst4 C A 3: 125,232,196 (GRCm39) T255K probably damaging Het
Or1i2 G C 10: 78,448,311 (GRCm39) L55V probably damaging Het
Or2l13 A T 16: 19,305,761 (GRCm39) M58L probably damaging Het
Or5ae2 G A 7: 84,506,114 (GRCm39) C181Y probably damaging Het
Or8g20 A G 9: 39,396,396 (GRCm39) L51P probably damaging Het
Pak1 T A 7: 97,515,355 (GRCm39) D126E probably benign Het
Rgl1 T C 1: 152,397,142 (GRCm39) T675A probably damaging Het
Rgs1 T C 1: 144,121,116 (GRCm39) D185G probably damaging Het
Rnase2a G A 14: 51,493,117 (GRCm39) R83C probably damaging Het
Sfmbt2 A G 2: 10,583,994 (GRCm39) T784A probably damaging Het
Slc6a21 A T 7: 44,937,189 (GRCm39) T272S Het
Sorcs2 G T 5: 36,222,765 (GRCm39) S330* probably null Het
Spdef G T 17: 27,936,183 (GRCm39) H253Q Het
Tas2r144 A G 6: 42,192,428 (GRCm39) E56G probably benign Het
Trim66 A G 7: 109,074,825 (GRCm39) C479R probably damaging Het
Ugt1a5 T C 1: 88,094,098 (GRCm39) S109P possibly damaging Het
Vamp5 G A 6: 72,347,276 (GRCm39) probably benign Het
Wwox A G 8: 115,166,540 (GRCm39) D10G possibly damaging Het
Zfp40 T C 17: 23,394,493 (GRCm39) Y698C probably damaging Het
Zfp62 A G 11: 49,106,458 (GRCm39) D183G probably benign Het
Zfp932 T C 5: 110,157,064 (GRCm39) V254A probably benign Het
Zfp943 T A 17: 22,209,899 (GRCm39) L57H probably damaging 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
R6363:Ttc36 UTSW 9 44,710,936 (GRCm39) missense probably damaging 1.00
R8017:Ttc36 UTSW 9 44,710,898 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGAAATTCAGAGGACCTCTCAGAC -3'
(R):5'- ACTAAGGATTGGAAGGCACACC -3'

Sequencing Primer
(F):5'- TTCAGAGGACCTCTCAGACTCCAG -3'
(R):5'- AGGCACACCTCTGTACCTGAG -3'
Posted On 2022-09-12