Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Ttc19'

725590

Institutional Source

Beutler Lab

Gene Symbol

Ttc19

Ensembl Gene

ENSMUSG00000042298

Gene Name

tetratricopeptide repeat domain 19

Synonyms

2810460C24Rik, 2010204O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62172256-62208611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62203997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 319 (I319M)

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 benign
Transcript: ENSMUST00000050646
AA Change: I319M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054367
Gene: ENSMUSG00000042298
AA Change: I319M

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 benign
Transcript: ENSMUST00000101075
AA Change: I306M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000098636
Gene: ENSMUSG00000042298
AA Change: I306M

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

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: 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

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

SMART Domains

Protein: ENSMUSP00000125618
Gene: ENSMUSG00000042298
AA Change: I198M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,389,072 (GRCm39)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,589,090 (GRCm39)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
Bin2	T	C	15: 100,549,915 (GRCm39)	D176G	possibly damaging	Het
Bptf	T	A	11: 106,952,545 (GRCm39)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
CN725425	A	T	15: 91,126,851 (GRCm39)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Ctsj	C	T	13: 61,151,828 (GRCm39)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,060,955 (GRCm39)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,681,344 (GRCm39)	I41F	probably damaging	Het
Drd3	A	G	16: 43,643,135 (GRCm39)	N425S	probably damaging	Het
Eci1	G	C	17: 24,645,859 (GRCm39)	G25R	probably damaging	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 27,841,726 (GRCm39)	I554V	probably benign	Het
Fndc1	T	C	17: 7,991,622 (GRCm39)	I691M	unknown	Het
Fut8	A	G	12: 77,440,507 (GRCm39)	T165A	probably benign	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm11595	A	T	11: 99,663,097 (GRCm39)	C194*	probably null	Het
Gm14403	T	A	2: 177,201,421 (GRCm39)	N213K	probably benign	Het
Gmpr	T	C	13: 45,699,519 (GRCm39)	V343A	probably benign	Het
Hacd1	T	C	2: 14,040,678 (GRCm39)	N152D	possibly damaging	Het
Hcn1	A	G	13: 118,010,522 (GRCm39)	S367G	probably benign	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,553,960 (GRCm39)	V946E	probably benign	Het
Krt71	T	C	15: 101,644,988 (GRCm39)	E441G	probably damaging	Het
Lhcgr	A	G	17: 89,049,532 (GRCm39)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,433,252 (GRCm39)	S3306C	unknown	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm39)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mmp15	A	G	8: 96,098,731 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,469 (GRCm39)	D67G	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,056,102 (GRCm39)	S67P	probably damaging	Het
Nrg1	T	C	8: 32,407,621 (GRCm39)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,714,594 (GRCm39)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,628,901 (GRCm39)	P655H	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,193,065 (GRCm39)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,423,057 (GRCm39)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,001,752 (GRCm39)		probably benign	Het
Or56a5	T	A	7: 104,793,165 (GRCm39)	T112S	probably benign	Het
Otog	A	T	7: 45,915,143 (GRCm39)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,556,019 (GRCm39)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,284,835 (GRCm39)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,486,109 (GRCm39)	R459S	probably benign	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Phf2	T	A	13: 48,971,292 (GRCm39)	D460V	unknown	Het
Polr1f	G	A	12: 33,479,723 (GRCm39)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,819,731 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,299,848 (GRCm39)	R604G		Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,292 (GRCm39)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,391,582 (GRCm39)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,134,139 (GRCm39)	T68A	probably benign	Het
Rrad	A	G	8: 105,356,320 (GRCm39)	M160T	probably benign	Het
Rtn1	A	G	12: 72,350,961 (GRCm39)	V416A	probably damaging	Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,615,969 (GRCm39)	V631E	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Serpinb6b	A	T	13: 33,155,532 (GRCm39)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,104,238 (GRCm39)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,358,176 (GRCm39)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,730,059 (GRCm39)	M316I	probably benign	Het
Slx4	A	T	16: 3,803,969 (GRCm39)	H948Q	probably benign	Het
Sncaip	A	G	18: 53,039,726 (GRCm39)	E640G	probably damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,442,648 (GRCm39)	I60T	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,689 (GRCm39)	M447K	possibly damaging	Het
Stam	A	T	2: 14,122,204 (GRCm39)	H101L	probably damaging	Het
Suz12	C	T	11: 79,915,748 (GRCm39)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 126,807,036 (GRCm39)	V167A	probably benign	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,209,097 (GRCm39)	V119A	probably damaging	Het
Ttc6	A	G	12: 57,664,299 (GRCm39)	M351V	probably benign	Het
Ttn	G	A	2: 76,714,897 (GRCm39)	R8026*	probably null	Het
Ttn	A	T	2: 76,750,210 (GRCm39)	V3613E	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Zfp820	T	C	17: 22,038,107 (GRCm39)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,701,787 (GRCm39)	A315T	unknown	Het
Zmiz1	C	A	14: 25,663,411 (GRCm39)	D1053E	unknown	Het

Other mutations in Ttc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Ttc19	APN	11	62,203,939 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTTTCTAAAGAAAAGGCTCTTG -3'
(R):5'- TCTGCCGTCATATGGTCATAC -3'

Sequencing Primer
(F):5'- CAGGGCCACTTTGATGAT -3'
(R):5'- GCCAGCCTTTTAACTTACAGCAGTAG -3'

Posted On

2022-09-12