Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Ttc19'

374239

Institutional Source

Beutler Lab

Gene Symbol

Ttc19

Ensembl Gene

ENSMUSG00000042298

Gene Name

tetratricopeptide repeat domain 19

Synonyms

2810460C24Rik, 2010204O13Rik

MMRRC Submission

042440-MU

Accession Numbers

Essential gene?

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

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62172256-62208611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62199922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 235 (R235H)

Ref Sequence

ENSEMBL: ENSMUSP00000054367 (fasta)

Gene Model

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

AlphaFold

Q8CC21

Predicted Effect

probably benign
Transcript: ENSMUST00000050646
AA Change: R235H

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054367
Gene: ENSMUSG00000042298
AA Change: R235H

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: ENSMUST00000101075
AA Change: R222H

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098636
Gene: ENSMUSG00000042298
AA Change: R222H

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

unknown
Transcript: ENSMUST00000162385
AA Change: R114H

SMART Domains

Protein: ENSMUSP00000125618
Gene: ENSMUSG00000042298
AA Change: R114H

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

0.0880

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Bmper	T	A	9: 23,134,956 (GRCm39)	V7D	possibly damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Klhl6	C	T	16: 19,775,778 (GRCm39)	R260H	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,645,141 (GRCm39)	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Washc5	A	T	15: 59,205,485 (GRCm39)	Y685*	probably null	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,570,254 (GRCm39)	T277S	probably benign	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	probably benign	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
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'- ATTGGTTGTCTGCCCACCTG -3'
(R):5'- CTTGAACCTGTGACCTTATGACC -3'

Sequencing Primer
(F):5'- GTTGTCTGCCCACCTGAACAG -3'
(R):5'- GTGACCTTATGACCCTCTACAGAG -3'

Posted On

2016-03-01