Mutagenetix > Incidental Mutation

Incidental Mutation 'R5403:Ttc3'

430138

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

D16Ium21e, TPRD, 2610202A04Rik, D16Ium21

MMRRC Submission

042974-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R5403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94171479-94270081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94260703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1396 (V1396A)

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 benign
Transcript: ENSMUST00000117648
AA Change: V1751A

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

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: V1751A

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: ENSMUST00000141192

Predicted Effect

probably benign
Transcript: ENSMUST00000154196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211314

Predicted Effect

probably benign
Transcript: ENSMUST00000231569
AA Change: V1396A

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: V1751A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232660
AA Change: V1751A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,489,323 (GRCm39)	D392G	possibly damaging	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Alkbh8	A	G	9: 3,385,318 (GRCm39)	K537E	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Bpifb4	A	T	2: 153,785,912 (GRCm39)	I17F	probably damaging	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Ccdc88b	T	A	19: 6,835,108 (GRCm39)	T38S	unknown	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Cdr2	G	A	7: 120,557,968 (GRCm39)	Q186*	probably null	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntnap3	G	A	13: 64,909,792 (GRCm39)	T771I	possibly damaging	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Ddx50	A	G	10: 62,482,809 (GRCm39)	S87P	probably benign	Het
Dennd2b	A	G	7: 109,156,112 (GRCm39)	S213P	probably damaging	Het
Dlg2	A	G	7: 92,080,210 (GRCm39)	T598A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epha6	A	T	16: 59,595,933 (GRCm39)	D919E	probably damaging	Het
Fndc9	C	T	11: 46,128,541 (GRCm39)	S20L	probably benign	Het
Gpx6	A	G	13: 21,501,813 (GRCm39)	E145G	probably damaging	Het
Hc	A	G	2: 34,947,446 (GRCm39)	Y23H	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Jmy	G	T	13: 93,577,904 (GRCm39)	Q755K	probably benign	Het
Krtap4-7	A	T	11: 99,534,540 (GRCm39)	S108T	unknown	Het
Mgat5b	T	G	11: 116,839,483 (GRCm39)	I333S	probably benign	Het
Mrtfb	A	G	16: 13,218,877 (GRCm39)	T519A	probably damaging	Het
Naip6	G	A	13: 100,436,585 (GRCm39)	A646V	probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Or8g22	G	T	9: 38,957,999 (GRCm39)	P239T	probably damaging	Het
Otogl	T	A	10: 107,644,617 (GRCm39)	M1210L	probably benign	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Rad50	A	G	11: 53,586,108 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Tbcd	C	A	11: 121,451,569 (GRCm39)	N546K	probably damaging	Het
Tenm4	A	G	7: 96,538,034 (GRCm39)	D1832G	probably damaging	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ube2o	A	T	11: 116,439,633 (GRCm39)	I179N	possibly damaging	Het
Usp17le	T	C	7: 104,418,441 (GRCm39)	I234V	probably damaging	Het
Zfp106	T	C	2: 120,365,262 (GRCm39)	T382A	probably benign	Het
Zfp607a	A	G	7: 27,578,744 (GRCm39)	K605E	possibly damaging	Het
Zmynd10	T	A	9: 107,427,785 (GRCm39)	L363H	possibly damaging	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
R4329:Ttc3	UTSW	16	94,267,820 (GRCm39)	missense	probably damaging	1.00
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	94,227,690 (GRCm39)	critical splice donor site	probably null
R4885:Ttc3	UTSW	16	94,220,324 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGTGGGCATGCATACTCAG -3'
(R):5'- GGTGTTCAATAATACTGTTGGAAGGC -3'

Sequencing Primer
(F):5'- GGCATGCATACTCAGTTTGTTTTTC -3'
(R):5'- CGAGTAGCCTGTCCAGATAGTTTC -3'

Posted On

2016-09-06