Mutagenetix > Incidental Mutation

Incidental Mutation 'R4681:Ttc19'

350038

Institutional Source

Beutler Lab

Gene Symbol

Ttc19

Ensembl Gene

ENSMUSG00000042298

Gene Name

tetratricopeptide repeat domain 19

Synonyms

2810460C24Rik, 2010204O13Rik

MMRRC Submission

042015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R4681 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62172256-62208611 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 62199917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 112 (C112*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050646] [ENSMUST00000101075]

AlphaFold

Q8CC21

Predicted Effect

probably null
Transcript: ENSMUST00000050646
AA Change: C233*

SMART Domains

Protein: ENSMUSP00000054367
Gene: ENSMUSG00000042298
AA Change: C233*

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 null
Transcript: ENSMUST00000101075
AA Change: C220*

SMART Domains

Protein: ENSMUSP00000098636
Gene: ENSMUSG00000042298
AA Change: C220*

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: ENSMUST00000119805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154976

Predicted Effect

probably null
Transcript: ENSMUST00000162385
AA Change: C112*

SMART Domains

Protein: ENSMUSP00000125618
Gene: ENSMUSG00000042298
AA Change: C112*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	G	T	1: 179,580,361 (GRCm39)	T1947K	probably benign	Het
Ak9	A	C	10: 41,303,234 (GRCm39)	K1669T	unknown	Het
Atp4b	T	C	8: 13,439,700 (GRCm39)	E174G	probably benign	Het
Bcl6	A	G	16: 23,787,203 (GRCm39)		probably benign	Het
Brca2	C	G	5: 150,475,863 (GRCm39)		probably null	Het
Btnl4	A	T	17: 34,689,075 (GRCm39)		probably null	Het
C4a	G	T	17: 35,036,075 (GRCm39)		noncoding transcript	Het
Cab39l	A	G	14: 59,737,054 (GRCm39)	D58G	probably benign	Het
Cacna2d3	A	T	14: 29,015,092 (GRCm39)	M100K	probably damaging	Het
Car2	T	A	3: 14,960,624 (GRCm39)	Y127*	probably null	Het
Cdhr1	T	C	14: 36,818,194 (GRCm39)	N86S	probably benign	Het
Celsr3	A	G	9: 108,704,953 (GRCm39)	I479V	possibly damaging	Het
Cfhr1	A	T	1: 139,478,667 (GRCm39)	Y53*	probably null	Het
Cgrrf1	A	G	14: 47,091,283 (GRCm39)	E269G	probably benign	Het
Cimap3	C	A	3: 105,905,701 (GRCm39)	G148C	probably damaging	Het
Clcn7	A	T	17: 25,376,935 (GRCm39)	H636L	probably damaging	Het
Cox10	T	G	11: 63,867,277 (GRCm39)	T240P	possibly damaging	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dbt	A	G	3: 116,326,963 (GRCm39)	D104G	probably damaging	Het
F730035P03Rik	T	C	7: 99,429,425 (GRCm39)		noncoding transcript	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186b	T	C	15: 99,178,771 (GRCm39)	K185R	probably benign	Het
Fat4	T	C	3: 38,941,491 (GRCm39)	L128P	probably damaging	Het
Gbf1	A	T	19: 46,268,989 (GRCm39)	Q1381L	probably benign	Het
Glp2r	C	T	11: 67,621,453 (GRCm39)		probably null	Het
Gm18025	A	G	12: 34,340,884 (GRCm39)	S70P	probably benign	Het
Gpr45	A	G	1: 43,072,068 (GRCm39)	D237G	probably benign	Het
Hectd4	A	T	5: 121,441,678 (GRCm39)	L1213F	possibly damaging	Het
Hydin	T	C	8: 111,233,103 (GRCm39)	V1734A	possibly damaging	Het
Kcnh5	A	T	12: 75,054,397 (GRCm39)	S516T	probably benign	Het
Liph	A	C	16: 21,802,777 (GRCm39)	S97R	probably benign	Het
Mtcl1	T	C	17: 66,756,139 (GRCm39)	T68A	unknown	Het
Nsun7	T	A	5: 66,418,542 (GRCm39)	S91T	probably benign	Het
Or5an10	T	C	19: 12,276,413 (GRCm39)	T28A	probably benign	Het
Or6c75	A	G	10: 129,337,433 (GRCm39)	I227V	probably damaging	Het
Pcdh20	A	T	14: 88,705,052 (GRCm39)	N749K	probably damaging	Het
Pot1b	A	T	17: 55,961,831 (GRCm39)	D582E	probably benign	Het
Pxdn	T	C	12: 30,062,325 (GRCm39)	I1212T	probably benign	Het
Ramp1	T	C	1: 91,124,511 (GRCm39)	V24A	probably benign	Het
S100a8	T	A	3: 90,576,890 (GRCm39)	D14E	probably benign	Het
Stk31	A	G	6: 49,414,369 (GRCm39)	D501G	probably benign	Het
Tbc1d19	G	A	5: 54,029,595 (GRCm39)	V319M	probably damaging	Het
Tbcel	G	T	9: 42,361,268 (GRCm39)	H93Q	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Trpm8	A	T	1: 88,312,427 (GRCm39)	I1103F	possibly damaging	Het
Unc5c	T	G	3: 141,474,374 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vmn2r15	T	A	5: 109,434,488 (GRCm39)	I739F	probably damaging	Het
Zcchc14	G	T	8: 122,335,339 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,476,131 (GRCm39)	P341L	probably damaging	Het
Zfp638	G	A	6: 83,958,719 (GRCm39)	V1166M	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCCACCTGAACAGTTTCTTGTGG -3'
(R):5'- TTTGCCCAGCACCCTTGAAC -3'

Sequencing Primer
(F):5'- CACCTGAACAGTTTCTTGTGGTTAAG -3'
(R):5'- AGCACCCTTGAACCTGTG -3'

Posted On

2015-10-08