Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02024:Ttc19'

184088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc19

Ensembl Gene

ENSMUSG00000042298

Gene Name

tetratricopeptide repeat domain 19

Synonyms

2810460C24Rik, 2010204O13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02024

Quality Score

Status

Chromosome

Chromosomal Location

62172256-62208611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62203939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 300 (R300I)

Ref Sequence

ENSEMBL: ENSMUSP00000054367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018645] [ENSMUST00000037575] [ENSMUST00000050646] [ENSMUST00000101066] [ENSMUST00000101067] [ENSMUST00000101075] [ENSMUST00000155712] [ENSMUST00000159315]

AlphaFold

Q8CC21

Predicted Effect

probably benign
Transcript: ENSMUST00000018645

SMART Domains

Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
Pfam:GPS2_interact	150	239	1.4e-37	PFAM
coiled coil region	302	329	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
SANT	437	485	2.76e-7	SMART
coiled coil region	507	544	N/A	INTRINSIC
low complexity region	593	617	N/A	INTRINSIC
SANT	624	672	3.29e-14	SMART
low complexity region	710	731	N/A	INTRINSIC
low complexity region	771	788	N/A	INTRINSIC
low complexity region	888	899	N/A	INTRINSIC
low complexity region	987	995	N/A	INTRINSIC
low complexity region	1002	1013	N/A	INTRINSIC
low complexity region	1036	1049	N/A	INTRINSIC
internal_repeat_2	1061	1298	1.62e-6	PROSPERO
internal_repeat_2	1299	1515	1.62e-6	PROSPERO
low complexity region	1516	1527	N/A	INTRINSIC
coiled coil region	1712	1749	N/A	INTRINSIC
low complexity region	1834	1848	N/A	INTRINSIC
low complexity region	1969	1980	N/A	INTRINSIC
low complexity region	2036	2055	N/A	INTRINSIC
PDB:3N00\|B	2064	2084	4e-7	PDB
low complexity region	2086	2101	N/A	INTRINSIC
low complexity region	2157	2168	N/A	INTRINSIC
PDB:2OVM\|B	2267	2290	2e-8	PDB
low complexity region	2311	2324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037575

SMART Domains

Protein: ENSMUSP00000038900
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	461	472	N/A	INTRINSIC
coiled coil region	658	695	N/A	INTRINSIC
low complexity region	780	794	N/A	INTRINSIC
low complexity region	915	926	N/A	INTRINSIC
low complexity region	982	1001	N/A	INTRINSIC
PDB:3N00\|B	1010	1030	2e-7	PDB
low complexity region	1032	1047	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
PDB:2OVM\|B	1212	1235	2e-8	PDB
low complexity region	1256	1269	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000050646
AA Change: R300I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054367
Gene: ENSMUSG00000042298
AA Change: R300I

Domain	Start	End	E-Value	Type
low complexity region	3	29	N/A	INTRINSIC
low complexity region	77	86	N/A	INTRINSIC
Blast:TPR	87	120	9e-6	BLAST
Blast:TPR	128	160	1e-9	BLAST
Pfam:TPR_12	216	301	1.1e-14	PFAM
Pfam:TPR_10	226	267	2.4e-6	PFAM
Pfam:TPR_10	307	339	5.4e-6	PFAM
Pfam:TPR_2	308	339	8.2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101066

SMART Domains

Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
coiled coil region	176	217	N/A	INTRINSIC
coiled coil region	302	329	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
SANT	437	485	2.76e-7	SMART
coiled coil region	507	544	N/A	INTRINSIC
low complexity region	593	617	N/A	INTRINSIC
SANT	624	672	3.29e-14	SMART
low complexity region	710	731	N/A	INTRINSIC
low complexity region	771	788	N/A	INTRINSIC
low complexity region	888	899	N/A	INTRINSIC
low complexity region	987	995	N/A	INTRINSIC
low complexity region	1002	1013	N/A	INTRINSIC
low complexity region	1036	1049	N/A	INTRINSIC
internal_repeat_2	1061	1298	1.62e-6	PROSPERO
internal_repeat_2	1299	1515	1.62e-6	PROSPERO
low complexity region	1516	1527	N/A	INTRINSIC
coiled coil region	1712	1749	N/A	INTRINSIC
low complexity region	1834	1848	N/A	INTRINSIC
low complexity region	1969	1980	N/A	INTRINSIC
low complexity region	2036	2055	N/A	INTRINSIC
PDB:3N00\|B	2064	2084	4e-7	PDB
low complexity region	2086	2101	N/A	INTRINSIC
low complexity region	2157	2168	N/A	INTRINSIC
PDB:2OVM\|B	2267	2290	2e-8	PDB
low complexity region	2311	2324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101067

SMART Domains

Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
coiled coil region	176	217	N/A	INTRINSIC
coiled coil region	302	329	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
SANT	437	485	2.76e-7	SMART
coiled coil region	507	544	N/A	INTRINSIC
low complexity region	593	617	N/A	INTRINSIC
SANT	624	672	3.29e-14	SMART
low complexity region	716	734	N/A	INTRINSIC
low complexity region	838	849	N/A	INTRINSIC
low complexity region	937	945	N/A	INTRINSIC
low complexity region	952	963	N/A	INTRINSIC
low complexity region	986	999	N/A	INTRINSIC
low complexity region	1448	1459	N/A	INTRINSIC
coiled coil region	1645	1682	N/A	INTRINSIC
low complexity region	1767	1781	N/A	INTRINSIC
low complexity region	1902	1913	N/A	INTRINSIC
low complexity region	1969	1988	N/A	INTRINSIC
PDB:3N00\|B	1997	2017	4e-7	PDB
low complexity region	2019	2034	N/A	INTRINSIC
low complexity region	2089	2100	N/A	INTRINSIC
PDB:2OVM\|B	2199	2222	2e-8	PDB
low complexity region	2243	2256	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101075
AA Change: R287I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098636
Gene: ENSMUSG00000042298
AA Change: R287I

Domain	Start	End	E-Value	Type
low complexity region	3	29	N/A	INTRINSIC
low complexity region	77	86	N/A	INTRINSIC
Blast:TPR	87	120	9e-6	BLAST
Pfam:TPR_12	210	288	1.8e-14	PFAM
Pfam:TPR_10	213	254	3.4e-6	PFAM
Pfam:TPR_10	255	293	2e-3	PFAM
Pfam:TPR_10	294	327	3.7e-5	PFAM
Pfam:TPR_2	295	326	8e-5	PFAM
Pfam:TPR_1	296	326	8.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154976

Predicted Effect

unknown
Transcript: ENSMUST00000162385
AA Change: R179I

SMART Domains

Protein: ENSMUSP00000125618
Gene: ENSMUSG00000042298
AA Change: R179I

Domain	Start	End	E-Value	Type
Blast:TPR	8	40	4e-10	BLAST
Pfam:TPR_12	97	181	6.3e-15	PFAM
Pfam:TPR_10	106	147	2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155712

SMART Domains

Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	26	47	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	204	215	N/A	INTRINSIC
low complexity region	303	311	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	352	365	N/A	INTRINSIC
low complexity region	785	796	N/A	INTRINSIC
coiled coil region	982	1019	N/A	INTRINSIC
low complexity region	1104	1118	N/A	INTRINSIC
low complexity region	1239	1250	N/A	INTRINSIC
low complexity region	1306	1325	N/A	INTRINSIC
PDB:3N00\|B	1334	1354	3e-7	PDB
low complexity region	1356	1371	N/A	INTRINSIC
low complexity region	1427	1438	N/A	INTRINSIC
PDB:2OVM\|B	1537	1560	2e-8	PDB
low complexity region	1581	1594	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159315

SMART Domains

Protein: ENSMUSP00000124175
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
PDB:2OVM\|B	9	32	3e-9	PDB
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156740

SMART Domains

Protein: ENSMUSP00000125458
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	451	462	N/A	INTRINSIC
coiled coil region	647	684	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
low complexity region	905	916	N/A	INTRINSIC
low complexity region	972	991	N/A	INTRINSIC
PDB:3N00\|B	1000	1020	2e-7	PDB
low complexity region	1022	1037	N/A	INTRINSIC
low complexity region	1092	1103	N/A	INTRINSIC
PDB:2OVM\|B	1202	1225	2e-8	PDB
low complexity region	1246	1259	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,113,705 (GRCm39)	H246Y	probably damaging	Het
Abat	G	A	16: 8,429,000 (GRCm39)	A322T	probably damaging	Het
Bcat1	A	G	6: 144,978,564 (GRCm39)	V152A	probably damaging	Het
Btaf1	A	G	19: 36,969,826 (GRCm39)		probably benign	Het
Elavl2	T	C	4: 91,141,776 (GRCm39)	T291A	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Fcgbp	G	A	7: 27,805,799 (GRCm39)	C2026Y	probably damaging	Het
Fcgrt	T	A	7: 44,744,682 (GRCm39)	H258L	probably damaging	Het
Galnt6	C	T	15: 100,601,374 (GRCm39)	D302N	probably benign	Het
Gldc	T	A	19: 30,078,227 (GRCm39)	R923S	probably damaging	Het
Hspg2	G	T	4: 137,267,384 (GRCm39)	A2033S	probably damaging	Het
Htr2c	T	A	X: 145,858,921 (GRCm39)	M77K	probably damaging	Het
Ifi208	A	G	1: 173,510,856 (GRCm39)	Y337C	probably damaging	Het
Ints11	G	T	4: 155,972,972 (GRCm39)	W554L	probably damaging	Het
Itgbl1	T	A	14: 124,094,904 (GRCm39)	C186S	probably damaging	Het
Lipf	A	G	19: 33,953,995 (GRCm39)	Y362C	probably damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Mroh9	T	G	1: 162,890,071 (GRCm39)	N222T	possibly damaging	Het
Msl3	C	A	X: 167,453,247 (GRCm39)	R89L	probably benign	Het
Nrip1	T	A	16: 76,088,563 (GRCm39)	D998V	probably benign	Het
Nrk	T	A	X: 137,896,678 (GRCm39)	I1265N	probably damaging	Het
Ntn5	A	G	7: 45,340,830 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,771,307 (GRCm39)	N146S	probably benign	Het
Or5w20	A	T	2: 87,727,243 (GRCm39)	R233S	possibly damaging	Het
Or6s1	T	G	14: 51,308,766 (GRCm39)	E28A	probably benign	Het
Plch2	T	C	4: 155,127,595 (GRCm39)		probably benign	Het
Porcn	C	T	X: 8,067,901 (GRCm39)	V233I	probably benign	Het
Ppp2r2a	T	C	14: 67,276,361 (GRCm39)	K48R	probably benign	Het
Ppp4r3c1	G	A	X: 88,975,129 (GRCm39)	T356I	probably benign	Het
Rccd1	A	T	7: 79,968,755 (GRCm39)	D268E	probably benign	Het
Sacs	C	A	14: 61,427,127 (GRCm39)	S178R	probably damaging	Het
Samd12	T	A	15: 53,521,862 (GRCm39)	D116V	probably damaging	Het
Slc12a8	A	G	16: 33,428,568 (GRCm39)	E46G	probably damaging	Het
Slc30a10	A	T	1: 185,187,438 (GRCm39)	I60F	possibly damaging	Het
Slc6a8	C	T	X: 72,722,583 (GRCm39)		probably benign	Het
Sos2	A	G	12: 69,664,822 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,783,338 (GRCm39)	V79A	probably benign	Het
Tmem184c	A	T	8: 78,331,443 (GRCm39)	V102E	probably benign	Het
Unc5d	T	A	8: 29,142,855 (GRCm39)	I866F	probably benign	Het
Vmn1r7	A	T	6: 57,001,874 (GRCm39)	C129S	probably benign	Het
Vps41	T	A	13: 18,975,827 (GRCm39)		probably benign	Het
Vwa8	C	T	14: 79,331,724 (GRCm39)	A1275V	possibly damaging	Het

Other mutations in Ttc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0091:Ttc19	UTSW	11	62,199,910 (GRCm39)	missense	probably damaging	1.00
R1929:Ttc19	UTSW	11	62,172,650 (GRCm39)	missense	probably benign	0.21
R2291:Ttc19	UTSW	11	62,174,519 (GRCm39)	missense	probably damaging	1.00
R4290:Ttc19	UTSW	11	62,176,753 (GRCm39)	splice site	probably null
R4681:Ttc19	UTSW	11	62,199,917 (GRCm39)	nonsense	probably null
R4824:Ttc19	UTSW	11	62,199,922 (GRCm39)	missense	probably benign	0.32
R5411:Ttc19	UTSW	11	62,174,977 (GRCm39)	missense	probably benign	0.06
R5790:Ttc19	UTSW	11	62,172,340 (GRCm39)	start codon destroyed	probably null
R6984:Ttc19	UTSW	11	62,204,863 (GRCm39)	missense	probably damaging	1.00
R9632:Ttc19	UTSW	11	62,203,997 (GRCm39)	missense	probably benign	0.00
R9710:Ttc19	UTSW	11	62,203,997 (GRCm39)	missense	probably benign	0.00
Z1176:Ttc19	UTSW	11	62,204,916 (GRCm39)	missense	probably benign	0.14

Posted On

2014-05-07