Mutagenetix > Incidental Mutation

Incidental Mutation 'R4329:Ttc3'

324544

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

D16Ium21e, TPRD, 2610202A04Rik, D16Ium21

MMRRC Submission

041663-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R4329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94171479-94270081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94267820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1589 (R1589H)

Ref Sequence

ENSEMBL: ENSMUSP00000156137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000154196] [ENSMUST00000211314] [ENSMUST00000231569] [ENSMUST00000231915] [ENSMUST00000232395] [ENSMUST00000232660]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117648
AA Change: R1944H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: R1944H

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

noncoding transcript
Transcript: ENSMUST00000129536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131429

Predicted Effect

probably benign
Transcript: ENSMUST00000154196

Predicted Effect

probably damaging
Transcript: ENSMUST00000211314
AA Change: R24H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231569
AA Change: R1589H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000231915

Predicted Effect

probably damaging
Transcript: ENSMUST00000232395
AA Change: R1944H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232660
AA Change: R1944H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000232368

Meta Mutation Damage Score

0.1739

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

96% (68/71)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	A	5: 113,243,455 (GRCm39)		probably null	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Ampd2	C	A	3: 107,985,103 (GRCm39)		probably benign	Het
Ang2	A	T	14: 51,433,325 (GRCm39)	I19N	possibly damaging	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
Cacna1s	A	C	1: 136,046,771 (GRCm39)	D1819A	probably benign	Het
Cand2	C	A	6: 115,776,949 (GRCm39)	H1112Q	possibly damaging	Het
Catsperd	T	A	17: 56,961,517 (GRCm39)	I413K	possibly damaging	Het
Ccdc142	T	A	6: 83,083,997 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Celsr3	C	T	9: 108,723,248 (GRCm39)	R2847C	probably benign	Het
Cep290	C	T	10: 100,373,530 (GRCm39)	S1270L	probably damaging	Het
Chka	T	C	19: 3,925,803 (GRCm39)		probably benign	Het
Cntnap5b	T	A	1: 99,999,888 (GRCm39)	D215E	probably damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cspg4	T	C	9: 56,799,749 (GRCm39)	F1539L	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Dchs1	A	T	7: 105,402,966 (GRCm39)	I3192N	probably damaging	Het
Dnah7c	T	A	1: 46,688,441 (GRCm39)	D1870E	probably benign	Het
Drc1	A	T	5: 30,513,002 (GRCm39)	I359L	probably benign	Het
Esp1	A	G	17: 41,039,768 (GRCm39)	M18V	probably benign	Het
Exoc1	T	A	5: 76,715,822 (GRCm39)	F789L	probably damaging	Het
Fbxw22	T	A	9: 109,213,111 (GRCm39)	T279S	probably damaging	Het
Frem1	G	A	4: 82,904,774 (GRCm39)	A880V	probably benign	Het
Gm29514	A	G	1: 146,296,429 (GRCm39)		noncoding transcript	Het
Grm7	T	C	6: 110,891,325 (GRCm39)	L186P	probably damaging	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Klk4	A	G	7: 43,533,830 (GRCm39)	D202G	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,861 (GRCm39)	Y808N	probably damaging	Het
Myom1	C	T	17: 71,343,348 (GRCm39)	L182F	probably damaging	Het
Nova1	A	T	12: 46,767,615 (GRCm39)	I102N	unknown	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Patl2	C	T	2: 121,958,018 (GRCm39)	S80N	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pkmyt1	T	A	17: 23,951,709 (GRCm39)	Y88N	probably damaging	Het
Pnkp	T	C	7: 44,508,018 (GRCm39)	S114P	probably benign	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Sema4d	T	C	13: 51,857,340 (GRCm39)	R631G	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Skint9	A	C	4: 112,249,062 (GRCm39)	L122R	probably damaging	Het
Slc16a13	T	C	11: 70,108,723 (GRCm39)	N369S	probably benign	Het
Strada	A	G	11: 106,077,999 (GRCm39)		probably benign	Het
Tnxb	C	A	17: 34,912,838 (GRCm39)	S1784Y	probably damaging	Het
Trpc2	T	C	7: 101,736,727 (GRCm39)	V318A	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Unc5b	A	G	10: 60,618,969 (GRCm39)	Y58H	probably damaging	Het
Xylt1	G	A	7: 117,255,684 (GRCm39)	G752D	probably damaging	Het
Yipf7	A	T	5: 69,678,465 (GRCm39)	L55Q	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	Het

Other mutations in Ttc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ttc3	APN	16	94,227,620 (GRCm39)	splice site	probably null
IGL00979:Ttc3	APN	16	94,257,577 (GRCm39)	missense	probably damaging	1.00
IGL01520:Ttc3	APN	16	94,191,066 (GRCm39)	missense	probably benign	0.04
IGL01663:Ttc3	APN	16	94,210,590 (GRCm39)	critical splice donor site	probably null
IGL01720:Ttc3	APN	16	94,186,228 (GRCm39)	missense	probably damaging	0.99
IGL01736:Ttc3	APN	16	94,243,386 (GRCm39)	missense	probably damaging	0.99
IGL02045:Ttc3	APN	16	94,210,540 (GRCm39)	splice site	probably benign
IGL02203:Ttc3	APN	16	94,219,457 (GRCm39)	splice site	probably benign
IGL02327:Ttc3	APN	16	94,248,967 (GRCm39)	missense	probably damaging	1.00
IGL02794:Ttc3	APN	16	94,268,785 (GRCm39)	missense	probably damaging	1.00
IGL02898:Ttc3	APN	16	94,220,285 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Ttc3	UTSW	16	94,211,765 (GRCm39)	missense	probably benign	0.01
R0064:Ttc3	UTSW	16	94,223,106 (GRCm39)	missense	possibly damaging	0.79
R0098:Ttc3	UTSW	16	94,191,124 (GRCm39)	missense	probably benign	0.02
R0112:Ttc3	UTSW	16	94,186,181 (GRCm39)	splice site	probably benign
R0135:Ttc3	UTSW	16	94,263,127 (GRCm39)	missense	possibly damaging	0.92
R0480:Ttc3	UTSW	16	94,232,863 (GRCm39)	nonsense	probably null
R0513:Ttc3	UTSW	16	94,227,071 (GRCm39)	missense	probably damaging	1.00
R0532:Ttc3	UTSW	16	94,188,189 (GRCm39)	splice site	probably benign
R0607:Ttc3	UTSW	16	94,257,644 (GRCm39)	nonsense	probably null
R0742:Ttc3	UTSW	16	94,260,739 (GRCm39)	missense	probably benign	0.23
R0905:Ttc3	UTSW	16	94,257,648 (GRCm39)	nonsense	probably null
R1118:Ttc3	UTSW	16	94,217,127 (GRCm39)	splice site	probably benign
R1355:Ttc3	UTSW	16	94,219,496 (GRCm39)	missense	possibly damaging	0.46
R1370:Ttc3	UTSW	16	94,219,496 (GRCm39)	missense	possibly damaging	0.46
R1486:Ttc3	UTSW	16	94,248,988 (GRCm39)	missense	probably damaging	1.00
R1598:Ttc3	UTSW	16	94,223,156 (GRCm39)	missense	probably damaging	1.00
R1641:Ttc3	UTSW	16	94,244,176 (GRCm39)	missense	probably benign	0.19
R2092:Ttc3	UTSW	16	94,243,691 (GRCm39)	missense	probably benign	0.02
R2232:Ttc3	UTSW	16	94,260,831 (GRCm39)	missense	probably benign	0.00
R2339:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R2342:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R2842:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R3117:Ttc3	UTSW	16	94,243,422 (GRCm39)	missense	possibly damaging	0.51
R4194:Ttc3	UTSW	16	94,223,136 (GRCm39)	missense	probably damaging	0.99
R4431:Ttc3	UTSW	16	94,211,817 (GRCm39)	critical splice donor site	probably null
R4530:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4531:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4532:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4533:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4588:Ttc3	UTSW	16	94,243,760 (GRCm39)	missense	probably benign	0.01
R4625:Ttc3	UTSW	16	94,189,131 (GRCm39)	nonsense	probably null
R4676:Ttc3	UTSW	16	94,243,620 (GRCm39)	missense	probably damaging	1.00
R4700:Ttc3	UTSW	16	94,240,100 (GRCm39)	splice site	probably null
R4856:Ttc3	UTSW	16	94,191,142 (GRCm39)	missense	probably benign	0.32
R4867:Ttc3	UTSW	16	94,255,374 (GRCm39)	missense	probably damaging	0.96
R4885:Ttc3	UTSW	16	94,220,324 (GRCm39)	missense	probably damaging	1.00
R4885:Ttc3	UTSW	16	94,227,690 (GRCm39)	critical splice donor site	probably null
R4899:Ttc3	UTSW	16	94,230,314 (GRCm39)	missense	probably damaging	1.00
R4997:Ttc3	UTSW	16	94,253,841 (GRCm39)	missense	probably damaging	1.00
R5023:Ttc3	UTSW	16	94,230,218 (GRCm39)	missense	probably benign	0.01
R5105:Ttc3	UTSW	16	94,267,793 (GRCm39)	missense	possibly damaging	0.94
R5205:Ttc3	UTSW	16	94,248,918 (GRCm39)	missense	probably benign	0.07
R5287:Ttc3	UTSW	16	94,260,703 (GRCm39)	missense	probably benign	0.00
R5338:Ttc3	UTSW	16	94,184,900 (GRCm39)	missense	probably damaging	0.99
R5347:Ttc3	UTSW	16	94,230,479 (GRCm39)	missense	probably damaging	1.00
R5403:Ttc3	UTSW	16	94,260,703 (GRCm39)	missense	probably benign	0.00
R5460:Ttc3	UTSW	16	94,258,241 (GRCm39)	missense	probably benign	0.32
R5739:Ttc3	UTSW	16	94,240,183 (GRCm39)	nonsense	probably null
R6242:Ttc3	UTSW	16	94,243,554 (GRCm39)	missense	probably benign	0.04
R6253:Ttc3	UTSW	16	94,258,272 (GRCm39)	critical splice donor site	probably null
R6455:Ttc3	UTSW	16	94,219,482 (GRCm39)	start codon destroyed	probably null	0.83
R6559:Ttc3	UTSW	16	94,223,208 (GRCm39)	critical splice donor site	probably null
R6564:Ttc3	UTSW	16	94,243,470 (GRCm39)	missense	probably damaging	1.00
R6932:Ttc3	UTSW	16	94,244,312 (GRCm39)	missense	probably benign
R7331:Ttc3	UTSW	16	94,195,218 (GRCm39)	missense	probably benign	0.27
R7497:Ttc3	UTSW	16	94,219,541 (GRCm39)	missense	possibly damaging	0.93
R7610:Ttc3	UTSW	16	94,228,697 (GRCm39)	missense	probably benign	0.11
R7738:Ttc3	UTSW	16	94,188,241 (GRCm39)	missense	probably benign	0.00
R7970:Ttc3	UTSW	16	94,258,223 (GRCm39)	missense	probably damaging	1.00
R8052:Ttc3	UTSW	16	94,268,848 (GRCm39)	missense	probably benign	0.09
R8087:Ttc3	UTSW	16	94,243,812 (GRCm39)	missense	probably benign	0.00
R8309:Ttc3	UTSW	16	94,267,838 (GRCm39)	missense	probably damaging	1.00
R8320:Ttc3	UTSW	16	94,219,535 (GRCm39)	missense	probably damaging	1.00
R8322:Ttc3	UTSW	16	94,255,351 (GRCm39)	missense	probably damaging	1.00
R8518:Ttc3	UTSW	16	94,258,238 (GRCm39)	missense	probably benign	0.21
R8670:Ttc3	UTSW	16	94,191,067 (GRCm39)	missense	probably damaging	0.99
R8826:Ttc3	UTSW	16	94,232,829 (GRCm39)	missense	possibly damaging	0.85
R8868:Ttc3	UTSW	16	94,252,002 (GRCm39)	missense	probably benign	0.00
R8873:Ttc3	UTSW	16	94,243,842 (GRCm39)	missense	probably damaging	0.97
R8940:Ttc3	UTSW	16	94,230,358 (GRCm39)	missense	possibly damaging	0.94
R8993:Ttc3	UTSW	16	94,228,667 (GRCm39)	missense	possibly damaging	0.85
R9068:Ttc3	UTSW	16	94,204,219 (GRCm39)	missense	probably damaging	1.00
R9119:Ttc3	UTSW	16	94,192,950 (GRCm39)	missense	probably damaging	0.98
R9124:Ttc3	UTSW	16	94,236,389 (GRCm39)	missense	probably benign	0.00
R9129:Ttc3	UTSW	16	94,185,208 (GRCm39)	missense	probably benign	0.02
R9189:Ttc3	UTSW	16	94,268,831 (GRCm39)	missense	possibly damaging	0.62
R9217:Ttc3	UTSW	16	94,230,467 (GRCm39)	missense	possibly damaging	0.80
R9490:Ttc3	UTSW	16	94,245,360 (GRCm39)	missense	probably benign
R9564:Ttc3	UTSW	16	94,248,918 (GRCm39)	missense	probably benign	0.07
R9631:Ttc3	UTSW	16	94,171,581 (GRCm39)	intron	probably benign
X0022:Ttc3	UTSW	16	94,243,384 (GRCm39)	missense	probably benign	0.00
Y5378:Ttc3	UTSW	16	94,212,988 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCACTCTGTTCAAGCACAAAG -3'
(R):5'- TGGGCAGAAACAGTCATCCAC -3'

Sequencing Primer
(F):5'- GCACAAAGCAAAAACAGTCTG -3'
(R):5'- TAGACACCCTGCCCTGAG -3'

Posted On

2015-06-24