Mutagenetix > Incidental Mutations

Incidental Mutation 'R8087:Ttc3'

629744

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

2610202A04Rik, D16Ium21, D16Ium21e, TPRD

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R8087 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

94370618-94469343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94442953 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1272 (P1272L)

Ref Sequence

ENSEMBL: ENSMUSP00000112801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147352] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000155692] [ENSMUST00000231569] [ENSMUST00000231915] [ENSMUST00000232395] [ENSMUST00000232660]

Predicted Effect

probably benign
Transcript: ENSMUST00000117648
AA Change: P1272L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: P1272L

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	2e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1170	1190	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1278	1291	N/A	INTRINSIC
coiled coil region	1472	1570	N/A	INTRINSIC
low complexity region	1876	1887	N/A	INTRINSIC
RING	1931	1970	7e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122895

SMART Domains

Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143145

Predicted Effect

probably benign
Transcript: ENSMUST00000147352

SMART Domains

Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151770

SMART Domains

Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	3e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152117

SMART Domains

Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
SCOP:d1ihga1	69	201	6e-8	SMART
Blast:TPR	175	208	1e-14	BLAST
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC
low complexity region	617	631	N/A	INTRINSIC
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155692

SMART Domains

Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	250	283	3.61e-2	SMART
TPR	284	317	3.32e-1	SMART
Blast:TPR	319	351	3e-12	BLAST
low complexity region	463	478	N/A	INTRINSIC
TPR	595	628	2.55e-2	SMART
low complexity region	739	751	N/A	INTRINSIC
coiled coil region	784	815	N/A	INTRINSIC
low complexity region	1037	1051	N/A	INTRINSIC
low complexity region	1055	1069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231569
AA Change: P917L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231915

Predicted Effect

probably benign
Transcript: ENSMUST00000232368

Predicted Effect

probably benign
Transcript: ENSMUST00000232395
AA Change: P1272L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000232660
AA Change: P1272L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	G	T	14: 32,785,969		probably benign	Het
4930451I11Rik	A	G	7: 126,830,880	V73A	possibly damaging	Het
A830010M20Rik	T	A	5: 107,485,087	Y264N	probably damaging	Het
Abcg1	T	C	17: 31,064,485	L48P	probably benign	Het
Ablim1	A	G	19: 57,182,256	W18R		Het
Acss1	A	G	2: 150,642,748	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,257,028	N769S	probably benign	Het
BC004004	T	A	17: 29,294,090	L163I	probably damaging	Het
Bco1	A	T	8: 117,108,762	T151S	possibly damaging	Het
C1ra	G	A	6: 124,513,872	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380	W527G	probably damaging	Het
Calca	T	C	7: 114,632,574	N85D	probably benign	Het
Capn13	A	G	17: 73,316,284	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,897,879	I381V	probably benign	Het
Ccr1	A	G	9: 123,964,334	V53A	probably benign	Het
Cd27	G	T	6: 125,233,362	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,190,270	V46E	probably damaging	Het
Cspp1	T	G	1: 10,104,264	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,610,876	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,753,499	S3279T	probably benign	Het
Ddx11	T	A	17: 66,149,993	Y772N	probably damaging	Het
Dgkd	T	A	1: 87,916,847	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,703,871	T270I	possibly damaging	Het
E330009J07Rik	T	A	6: 40,418,592	D194V	possibly damaging	Het
Elac2	A	G	11: 64,979,208	H33R	probably benign	Het
Emilin1	T	A	5: 30,917,100	D228E	probably damaging	Het
F2rl1	A	G	13: 95,513,999	L125P	probably damaging	Het
Fam186a	A	G	15: 99,941,844	V2173A	possibly damaging	Het
Foxp4	C	A	17: 47,904,430	G30C	probably damaging	Het
Fyn	T	A	10: 39,529,557	L273*	probably null	Het
Garnl3	G	T	2: 33,045,536	D196E	probably benign	Het
Glb1	A	T	9: 114,430,415	T220S	probably damaging	Het
Gm9268	A	T	7: 43,047,670	Y717F	probably benign	Het
Hsdl2	G	T	4: 59,592,228	A31S	unknown	Het
Irak3	T	A	10: 120,182,535	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,414,976	M148L	probably benign	Het
Kif2c	A	T	4: 117,165,418	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,329,252	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,448,129	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,490,176	I39L	probably benign	Het
Muc13	G	T	16: 33,799,027	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,172,071	I721N	probably benign	Het
Ntsr1	A	T	2: 180,500,172		probably benign	Het
Nubp1	T	C	16: 10,420,348		probably null	Het
Olfr92	T	C	17: 37,111,548	I145V	probably benign	Het
Ovol3	A	C	7: 30,234,372	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,308,664	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,486,236	D120G	probably benign	Het
Pde6b	T	C	5: 108,388,462	V8A	probably benign	Het
Pkhd1	G	T	1: 20,523,089	T1600K	probably damaging	Het
Pkp3	A	G	7: 141,087,638	I451V	possibly damaging	Het
Plce1	A	G	19: 38,736,521	T1439A	probably damaging	Het
Prr27	C	A	5: 87,846,309	N347K	probably benign	Het
Prss41	T	C	17: 23,837,102	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,221,389	I457V	probably benign	Het
Rspry1	G	A	8: 94,654,297	V534M	probably benign	Het
Rxrb	T	C	17: 34,035,789	V306A	probably benign	Het
Sim1	T	C	10: 50,909,555	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,996,061	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,438,749		probably benign	Het
Snx19	T	C	9: 30,464,402	M993T	probably benign	Het
Sstr2	G	A	11: 113,624,675	R140H	probably damaging	Het
Syne1	C	T	10: 5,333,034	R1553Q	probably benign	Het
Tchp	T	C	5: 114,719,604	I386T	probably damaging	Het
Traf7	G	T	17: 24,512,064	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,248,674	L798F	probably damaging	Het
Ttf2	G	T	3: 100,964,096	A83E	probably damaging	Het
Uba3	T	A	6: 97,185,383	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,412,489		probably null	Het
Ulk4	A	G	9: 121,266,251	L112P	probably damaging	Het
Unc5a	A	G	13: 54,996,172	N150S	probably damaging	Het
Vac14	A	T	8: 110,719,900	K760N	probably benign	Het
Vmn2r113	A	T	17: 22,958,737	I832L	possibly damaging	Het
Xpot	T	C	10: 121,601,327	I830V	probably benign	Het
Zfp101	G	A	17: 33,381,003	T593I	probably benign	Het
Zfp54	A	C	17: 21,434,998	T585P	probably damaging	Het
Zfp663	T	C	2: 165,353,759	D180G	probably benign	Het

Other mutations in Ttc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ttc3	APN	16	94426761	splice site	probably null
IGL00979:Ttc3	APN	16	94456718	missense	probably damaging	1.00
IGL01520:Ttc3	APN	16	94390207	missense	probably benign	0.04
IGL01663:Ttc3	APN	16	94409731	critical splice donor site	probably null
IGL01720:Ttc3	APN	16	94385369	missense	probably damaging	0.99
IGL01736:Ttc3	APN	16	94442527	missense	probably damaging	0.99
IGL02045:Ttc3	APN	16	94409681	splice site	probably benign
IGL02203:Ttc3	APN	16	94418598	splice site	probably benign
IGL02327:Ttc3	APN	16	94448108	missense	probably damaging	1.00
IGL02794:Ttc3	APN	16	94467926	missense	probably damaging	1.00
IGL02898:Ttc3	APN	16	94419426	missense	probably damaging	1.00
PIT4378001:Ttc3	UTSW	16	94410906	missense	probably benign	0.01
R0064:Ttc3	UTSW	16	94422247	missense	possibly damaging	0.79
R0098:Ttc3	UTSW	16	94390265	missense	probably benign	0.02
R0112:Ttc3	UTSW	16	94385322	splice site	probably benign
R0135:Ttc3	UTSW	16	94462268	missense	possibly damaging	0.92
R0480:Ttc3	UTSW	16	94432004	nonsense	probably null
R0513:Ttc3	UTSW	16	94426212	missense	probably damaging	1.00
R0532:Ttc3	UTSW	16	94387330	splice site	probably benign
R0607:Ttc3	UTSW	16	94456785	nonsense	probably null
R0742:Ttc3	UTSW	16	94459880	missense	probably benign	0.23
R0905:Ttc3	UTSW	16	94456789	nonsense	probably null
R1118:Ttc3	UTSW	16	94416268	splice site	probably benign
R1355:Ttc3	UTSW	16	94418637	missense	possibly damaging	0.46
R1370:Ttc3	UTSW	16	94418637	missense	possibly damaging	0.46
R1486:Ttc3	UTSW	16	94448129	missense	probably damaging	1.00
R1598:Ttc3	UTSW	16	94422297	missense	probably damaging	1.00
R1641:Ttc3	UTSW	16	94443317	missense	probably benign	0.19
R2092:Ttc3	UTSW	16	94442832	missense	probably benign	0.02
R2232:Ttc3	UTSW	16	94459972	missense	probably benign	0.00
R2339:Ttc3	UTSW	16	94431998	missense	probably damaging	1.00
R2342:Ttc3	UTSW	16	94431998	missense	probably damaging	1.00
R2842:Ttc3	UTSW	16	94431998	missense	probably damaging	1.00
R3117:Ttc3	UTSW	16	94442563	missense	possibly damaging	0.51
R4194:Ttc3	UTSW	16	94422277	missense	probably damaging	0.99
R4329:Ttc3	UTSW	16	94466961	missense	probably damaging	1.00
R4431:Ttc3	UTSW	16	94410958	critical splice donor site	probably null
R4530:Ttc3	UTSW	16	94466877	intron	probably benign
R4531:Ttc3	UTSW	16	94466877	intron	probably benign
R4532:Ttc3	UTSW	16	94466877	intron	probably benign
R4533:Ttc3	UTSW	16	94466877	intron	probably benign
R4588:Ttc3	UTSW	16	94442901	missense	probably benign	0.01
R4625:Ttc3	UTSW	16	94388272	nonsense	probably null
R4676:Ttc3	UTSW	16	94442761	missense	probably damaging	1.00
R4700:Ttc3	UTSW	16	94439241	splice site	probably null
R4856:Ttc3	UTSW	16	94390283	missense	probably benign	0.32
R4867:Ttc3	UTSW	16	94454515	missense	probably damaging	0.96
R4885:Ttc3	UTSW	16	94419465	missense	probably damaging	1.00
R4885:Ttc3	UTSW	16	94426831	critical splice donor site	probably null
R4899:Ttc3	UTSW	16	94429455	missense	probably damaging	1.00
R4997:Ttc3	UTSW	16	94452982	missense	probably damaging	1.00
R5023:Ttc3	UTSW	16	94429359	missense	probably benign	0.01
R5105:Ttc3	UTSW	16	94466934	missense	possibly damaging	0.94
R5205:Ttc3	UTSW	16	94448059	missense	probably benign	0.07
R5287:Ttc3	UTSW	16	94459844	missense	probably benign	0.00
R5338:Ttc3	UTSW	16	94384041	missense	probably damaging	0.99
R5347:Ttc3	UTSW	16	94429620	missense	probably damaging	1.00
R5403:Ttc3	UTSW	16	94459844	missense	probably benign	0.00
R5460:Ttc3	UTSW	16	94457382	missense	probably benign	0.32
R5739:Ttc3	UTSW	16	94439324	nonsense	probably null
R6242:Ttc3	UTSW	16	94442695	missense	probably benign	0.04
R6253:Ttc3	UTSW	16	94457413	critical splice donor site	probably null
R6455:Ttc3	UTSW	16	94418623	start codon destroyed	probably null	0.83
R6559:Ttc3	UTSW	16	94422349	critical splice donor site	probably null
R6564:Ttc3	UTSW	16	94442611	missense	probably damaging	1.00
R6932:Ttc3	UTSW	16	94443453	missense	probably benign
R7331:Ttc3	UTSW	16	94394359	missense	probably benign	0.27
R7497:Ttc3	UTSW	16	94418682	missense	possibly damaging	0.93
R7610:Ttc3	UTSW	16	94427838	missense	probably benign	0.11
R7738:Ttc3	UTSW	16	94387382	missense	probably benign	0.00
R7970:Ttc3	UTSW	16	94457364	missense	probably damaging	1.00
R8052:Ttc3	UTSW	16	94467989	missense	probably benign	0.09
R8309:Ttc3	UTSW	16	94466979	missense	probably damaging	1.00
R8320:Ttc3	UTSW	16	94418676	missense	probably damaging	1.00
R8322:Ttc3	UTSW	16	94454492	missense	probably damaging	1.00
R8518:Ttc3	UTSW	16	94457379	missense	probably benign	0.21
X0022:Ttc3	UTSW	16	94442525	missense	probably benign	0.00
Y5378:Ttc3	UTSW	16	94412129	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCACTAAATCCAACTGCTAGGG -3'
(R):5'- AAATGTTGGCCAAAGGTGTG -3'

Sequencing Primer
(F):5'- CTGCTAGGGAATTTCAACCAGATG -3'
(R):5'- TGTGTAAATGCTAGTGAACTGCGAC -3'

Posted On

2020-06-30