Incidental Mutation 'IGL01070:Ttc36'
ID 51870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc36
Ensembl Gene ENSMUSG00000039438
Gene Name tetratricopeptide repeat domain 36
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01070
Quality Score
Status
Chromosome 9
Chromosomal Location 44799397-44803072 bp(-) (GRCm38)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 44801590 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000044694
SMART Domains Protein: ENSMUSP00000042183
Gene: ENSMUSG00000039438

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216449
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adamts5 T C 16: 85,863,133 H757R probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap3 A T 6: 126,865,879 E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 S271P probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cma1 A G 14: 55,942,697 S71P probably benign Het
Cspp1 T C 1: 10,088,145 Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 K191R probably benign Het
Efr3a G A 15: 65,853,078 V507I probably benign Het
Fam178b C T 1: 36,564,403 R489Q possibly damaging Het
Kcnj4 A G 15: 79,484,579 L400P probably benign Het
Kif27 A G 13: 58,344,093 Y411H probably damaging Het
Mstn A T 1: 53,061,997 I78L possibly damaging Het
Nrap T C 19: 56,329,084 D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 probably benign Het
Rbfox1 A C 16: 7,306,443 S219R possibly damaging Het
Rfng T C 11: 120,783,952 N71D probably damaging Het
Rp1 T C 1: 4,345,238 I1884V probably damaging Het
Rptn T A 3: 93,398,176 Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 V322A probably benign Het
Shank3 T C 15: 89,549,416 S1455P probably damaging Het
Smc5 T A 19: 23,231,601 R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 probably null Het
Tecta T C 9: 42,395,003 D43G probably damaging Het
Tmem67 A T 4: 12,054,750 M685K probably benign Het
Trac A G 14: 54,220,766 T82A probably benign Het
Trank1 A G 9: 111,366,793 N1295S probably damaging Het
Utp18 A T 11: 93,869,848 S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 I714F probably benign Het
Vps54 T A 11: 21,312,268 V626D probably damaging Het
Wapl T C 14: 34,745,622 probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Ttc36
AlleleSourceChrCoordTypePredicted EffectPPH Score
F5770:Ttc36 UTSW 9 44801797 unclassified probably benign
R1856:Ttc36 UTSW 9 44802754 missense probably benign 0.12
R6363:Ttc36 UTSW 9 44799639 missense probably damaging 1.00
R8017:Ttc36 UTSW 9 44799601 missense probably damaging 0.97
Posted On 2013-06-21