Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Ttc3'

16316

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

2610202A04Rik, D16Ium21, D16Ium21e, TPRD

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94370618-94469343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94390265 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 222 (H222L)

Ref Sequence

ENSEMBL: ENSMUSP00000113311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000119131] [ENSMUST00000122895] [ENSMUST00000139513] [ENSMUST00000141856] [ENSMUST00000143145] [ENSMUST00000145432] [ENSMUST00000145883] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000149885] [ENSMUST00000150097] [ENSMUST00000150346] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000153062] [ENSMUST00000153988] [ENSMUST00000154243] [ENSMUST00000155692] [ENSMUST00000231569] [ENSMUST00000231915] [ENSMUST00000232395] [ENSMUST00000232660]

Predicted Effect

probably benign
Transcript: ENSMUST00000117648
AA Change: H222L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: H222L

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: ENSMUST00000119131
AA Change: H222L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113311
Gene: ENSMUSG00000040785
AA Change: H222L

Domain	Start	End	E-Value	Type
Pfam:TPR_11	229	285	1.1e-12	PFAM
Pfam:TPR_1	232	264	2.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122895
AA Change: H204L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: H204L

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: ENSMUST00000127667

SMART Domains

Protein: ENSMUSP00000122425
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_11	22	89	4.7e-16	PFAM
Pfam:TPR_2	24	57	5.7e-4	PFAM
Pfam:TPR_1	25	57	3.5e-5	PFAM
Pfam:TPR_9	35	103	3.2e-6	PFAM
Pfam:TPR_1	58	89	2.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127911

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: ENSMUST00000145432

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
AA Change: H204L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: H204L

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: ENSMUST00000149753

Predicted Effect

probably benign
Transcript: ENSMUST00000149885

SMART Domains

Protein: ENSMUSP00000122006
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_2	1	31	3.5e-4	PFAM
Pfam:TPR_11	1	58	7.8e-16	PFAM
Pfam:TPR_1	2	31	1.8e-5	PFAM
Pfam:TPR_9	9	58	2.5e-6	PFAM
Pfam:TPR_17	20	53	4.2e-7	PFAM
Pfam:TPR_1	32	58	2.5e-4	PFAM

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
AA Change: H222L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: H222L

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: ENSMUST00000153062

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: ENSMUST00000154243

Predicted Effect

probably benign
Transcript: ENSMUST00000155692
AA Change: H241L

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

SMART Domains

Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: H241L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231915
AA Change: H222L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000232395
AA Change: H222L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000232660
AA Change: H222L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	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
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	unclassified	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
X0022:Ttc3	UTSW	16	94442525	missense	probably benign	0.00
Y5378:Ttc3	UTSW	16	94412129	splice site	probably null

Posted On

2013-01-20