Mutagenetix > Incidental Mutations

Incidental Mutation 'R1118:Ttc3'

97628

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

2610202A04Rik, D16Ium21, D16Ium21e, TPRD

MMRRC Submission

039191-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R1118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94370618-94469343 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 94416268 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000139513] [ENSMUST00000141856] [ENSMUST00000143145] [ENSMUST00000145883] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000150097] [ENSMUST00000150346] [ENSMUST00000151770] [ENSMUST00000153988] [ENSMUST00000155692] [ENSMUST00000152117] [ENSMUST00000231850] [ENSMUST00000232395] [ENSMUST00000231915] [ENSMUST00000232660] [ENSMUST00000231569]

Predicted Effect

probably benign
Transcript: ENSMUST00000117648

SMART Domains

Protein: ENSMUSP00000112801
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	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

noncoding transcript
Transcript: ENSMUST00000130960

Predicted Effect

probably benign
Transcript: ENSMUST00000139513

SMART Domains

Protein: ENSMUSP00000117881
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141856

SMART Domains

Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_1	90	121	1e-6	PFAM
Pfam:TPR_2	90	121	7.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143145

Predicted Effect

probably benign
Transcript: ENSMUST00000145883

SMART Domains

Protein: ENSMUSP00000123442
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
transmembrane domain	42	64	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147046

SMART Domains

Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	5.3e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
low complexity region	359	382	N/A	INTRINSIC

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: ENSMUST00000150097

SMART Domains

Protein: ENSMUSP00000119035
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150346

SMART Domains

Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	9.6e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151192

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: ENSMUST00000153988

SMART Domains

Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	3e-6	BLAST
low complexity region	134	149	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: 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: ENSMUST00000231850

Predicted Effect

probably benign
Transcript: ENSMUST00000232395

Predicted Effect

probably benign
Transcript: ENSMUST00000231915

Predicted Effect

probably benign
Transcript: ENSMUST00000232660

Predicted Effect

probably benign
Transcript: ENSMUST00000231569

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.3%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	A	7: 29,534,244		noncoding transcript	Het
Apcdd1	A	G	18: 62,952,024	T431A	probably benign	Het
Bcan	T	A	3: 87,989,227	I721F	probably damaging	Het
Card10	T	C	15: 78,802,443	D58G	possibly damaging	Het
Ccdc129	T	C	6: 55,889,170	F183L	probably damaging	Het
Cd200r2	A	G	16: 44,909,606	N171S	probably damaging	Het
Celsr1	T	C	15: 86,032,047	D575G	probably damaging	Het
Ces1f	A	G	8: 93,267,242		probably benign	Het
Cped1	A	T	6: 22,237,699	H938L	probably benign	Het
Creld1	A	G	6: 113,491,695	D259G	probably benign	Het
Cubn	T	C	2: 13,336,242	I2223V	possibly damaging	Het
Dopey1	A	G	9: 86,515,406	D921G	probably damaging	Het
Dusp7	T	C	9: 106,373,650	S325P	possibly damaging	Het
Fam71a	G	A	1: 191,164,485		probably benign	Het
Fat4	A	T	3: 38,982,942	D3581V	possibly damaging	Het
Fhl3	T	C	4: 124,705,791		probably null	Het
Gap43	T	C	16: 42,291,804	E198G	probably benign	Het
Grina	T	C	15: 76,248,579	F182S	probably damaging	Het
Gsk3b	T	C	16: 38,207,984		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Haus6	A	G	4: 86,585,326		probably null	Het
Hmcn1	C	T	1: 150,618,928	A4137T	possibly damaging	Het
Itih4	C	A	14: 30,896,167		probably benign	Het
Kif22	A	G	7: 127,032,744	S384P	probably benign	Het
Lbr	A	C	1: 181,820,668		probably benign	Het
Mei1	G	A	15: 82,115,867		probably benign	Het
Misp	T	C	10: 79,827,135	V462A	probably benign	Het
Mrgpra3	A	C	7: 47,589,291	L296V	possibly damaging	Het
Ndufa9	A	T	6: 126,822,068	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,384,437	D572E	probably benign	Het
Olfr1306	T	A	2: 111,912,877	T18S	probably benign	Het
Otud4	C	T	8: 79,653,351		probably benign	Het
P4ha3	T	C	7: 100,313,328	I431T	probably damaging	Het
Pcdhb15	T	A	18: 37,473,762	F16I	probably benign	Het
Pcnp	A	G	16: 56,024,391	S49P	probably damaging	Het
Pdxdc1	T	A	16: 13,879,414		probably benign	Het
Pgc	T	A	17: 47,728,903		probably null	Het
Phf11a	T	C	14: 59,284,329	D131G	probably benign	Het
Prdm2	G	A	4: 143,132,383	H1446Y	possibly damaging	Het
Rad54b	T	C	4: 11,563,352	S4P	probably damaging	Het
Slc52a2	T	C	15: 76,539,608		probably benign	Het
Slc9a4	G	A	1: 40,584,330		probably benign	Het
Smad4	T	C	18: 73,640,262	D551G	probably benign	Het
Smg7	A	T	1: 152,866,575		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sspo	A	G	6: 48,459,418	Y1234C	probably damaging	Het
Stab2	A	T	10: 86,885,718		probably null	Het
Stk36	A	G	1: 74,632,766	E875G	probably benign	Het
Stmn4	T	G	14: 66,354,395		probably benign	Het
Tagln3	C	A	16: 45,724,272	R12L	probably damaging	Het
Tex14	A	T	11: 87,522,517	R1031S	probably benign	Het
Tia1	G	A	6: 86,419,109	V96I	probably benign	Het
Ticrr	C	T	7: 79,693,953	P1189S	probably benign	Het
Tnxb	G	A	17: 34,685,043	V1053M	probably damaging	Het
Tpp2	T	C	1: 43,992,396		probably null	Het
Trpm7	A	G	2: 126,822,486	M991T	possibly damaging	Het
Vcan	G	A	13: 89,705,663	P393S	probably damaging	Het
Vmn2r107	G	A	17: 20,356,598	R286Q	probably benign	Het
Wrap73	A	T	4: 154,152,427		probably null	Het
Zfp958	A	T	8: 4,626,169	N46Y	possibly damaging	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
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
R8087:Ttc3	UTSW	16	94442953	missense	probably benign	0.00
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'- AGCCCAGGTTGGTTCTTCTCTAATTTTC -3'
(R):5'- TGCTCACTTTGGCCCAAACATACATA -3'

Sequencing Primer
(F):5'- GCCTTGGATTTACAGTCACAG -3'
(R):5'- tgagccatttctccagcc -3'

Posted On

2014-01-05