Mutagenetix > Incidental Mutation

Incidental Mutation 'R4530:Ttc3'

333093

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

D16Ium21e, TPRD, 2610202A04Rik, D16Ium21

MMRRC Submission

041770-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R4530 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94171479-94270081 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 94267736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156151 (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

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

noncoding transcript
Transcript: ENSMUST00000129536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131429

Predicted Effect

probably benign
Transcript: ENSMUST00000154196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211314

Predicted Effect

probably benign
Transcript: ENSMUST00000231569

Predicted Effect

probably benign
Transcript: ENSMUST00000231915

Predicted Effect

probably benign
Transcript: ENSMUST00000232395

Predicted Effect

probably benign
Transcript: ENSMUST00000232660

Predicted Effect

probably benign
Transcript: ENSMUST00000232368

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

93% (37/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	C	14: 56,016,485 (GRCm39)	D322G	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Arhgap42	T	C	9: 9,011,433 (GRCm39)	D451G	probably damaging	Het
Arhgef7	T	C	8: 11,850,802 (GRCm39)	M144T	possibly damaging	Het
Arid4b	C	A	13: 14,301,040 (GRCm39)	T41N	probably damaging	Het
Axin1	T	A	17: 26,407,146 (GRCm39)	Y580N	probably benign	Het
Cdc27	T	C	11: 104,419,252 (GRCm39)	N227D	possibly damaging	Het
Cetn4	C	T	3: 37,364,094 (GRCm39)	V39I	probably benign	Het
Clec2h	A	G	6: 128,639,457 (GRCm39)	D18G	possibly damaging	Het
Clec4e	T	C	6: 123,266,733 (GRCm39)		probably benign	Het
Cntnap4	T	C	8: 113,584,842 (GRCm39)	I1093T	probably benign	Het
Dner	G	T	1: 84,560,736 (GRCm39)	N136K	probably damaging	Het
Gpr158	A	G	2: 21,373,811 (GRCm39)	S249G	probably benign	Het
Il16	A	C	7: 83,330,518 (GRCm39)		probably benign	Het
Intu	T	G	3: 40,637,794 (GRCm39)	C427G	possibly damaging	Het
Kif21a	A	C	15: 90,852,292 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Mroh7	T	C	4: 106,577,634 (GRCm39)	E348G	possibly damaging	Het
Or10g6	G	A	9: 39,934,589 (GRCm39)	R300K	probably benign	Het
Or2h1b	C	T	17: 37,462,498 (GRCm39)	V122M	possibly damaging	Het
Or8g2b	G	T	9: 39,751,379 (GRCm39)	M216I	probably benign	Het
Or8k38	T	C	2: 86,487,905 (GRCm39)	D299G	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Prss43	A	T	9: 110,658,572 (GRCm39)	M291L	probably benign	Het
Rap1gds1	T	C	3: 138,663,186 (GRCm39)	N338D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Stip1	G	T	19: 7,013,026 (GRCm39)	N19K	probably benign	Het
Tat	T	A	8: 110,722,842 (GRCm39)	F301L	probably benign	Het
Tmprss11a	C	A	5: 86,576,540 (GRCm39)	V104L	possibly damaging	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Vcan	A	T	13: 89,852,147 (GRCm39)	F938I	probably damaging	Het
Wrap73	A	G	4: 154,241,164 (GRCm39)		probably benign	Het
Xndc1	C	A	7: 101,727,942 (GRCm39)	N85K	probably benign	Het
Zfp282	C	T	6: 47,867,567 (GRCm39)	P248S	probably benign	Het
Zfp930	C	T	8: 69,681,483 (GRCm39)	Q393*	probably null	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
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'- TTGAAACGGTTCCCTCTGAG -3'
(R):5'- ATGTTTACAGTCACATGAACACATG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CCACATTTTAGCACACGC -3'

Posted On

2015-08-18