Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Ttc36'

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

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

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]

Predicted Effect

probably benign
Transcript: ENSMUST00000002095

SMART Domains

Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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

Posted On

2013-06-21