Mutagenetix > Incidental Mutation

Incidental Mutation 'R4531:Ttc3'

333124

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

D16Ium21e, TPRD, 2610202A04Rik, D16Ium21

MMRRC Submission

041771-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R4531 (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: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,736,962 (GRCm39)	T526A	probably benign	Het
Acad12	T	C	5: 121,736,964 (GRCm39)	Q525R	probably benign	Het
Cnot3	T	C	7: 3,661,073 (GRCm39)	V558A	probably benign	Het
Cntnap4	G	A	8: 113,537,240 (GRCm39)	V704M	possibly damaging	Het
Col22a1	T	C	15: 71,878,998 (GRCm39)	D53G	probably damaging	Het
Cspp1	T	A	1: 10,137,072 (GRCm39)		probably benign	Het
Cyp2d10	T	A	15: 82,289,462 (GRCm39)	T217S	probably benign	Het
Dcaf6	T	C	1: 165,239,036 (GRCm39)	T229A	probably damaging	Het
E4f1	A	T	17: 24,664,961 (GRCm39)	S408T	possibly damaging	Het
Eif1ad19	G	A	12: 87,740,314 (GRCm39)	Q82*	probably null	Het
Gpr149	A	G	3: 62,510,099 (GRCm39)	F339L	probably benign	Het
Hmbox1	A	T	14: 65,062,938 (GRCm39)	C413S	probably benign	Het
Kmo	T	C	1: 175,487,273 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Lrpprc	T	C	17: 85,020,215 (GRCm39)	I1157V	probably benign	Het
Obscn	A	G	11: 58,898,700 (GRCm39)		probably benign	Het
Or14c40	T	A	7: 86,313,479 (GRCm39)	L203H	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pclo	A	G	5: 14,825,422 (GRCm39)	D4657G	unknown	Het
Pgd	T	C	4: 149,241,234 (GRCm39)	K225R	probably benign	Het
Poli	A	T	18: 70,650,548 (GRCm39)	H297Q	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc24a2	T	C	4: 86,909,715 (GRCm39)	I668V	possibly damaging	Het
Tdrd6	A	G	17: 43,939,645 (GRCm39)	S468P	probably damaging	Het
Trav6-4	A	G	14: 53,691,790 (GRCm39)	T3A	probably benign	Het
Trpc2	G	T	7: 101,745,205 (GRCm39)	R807L	probably damaging	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vwce	A	C	19: 10,641,710 (GRCm39)	E812A	probably benign	Het
Zmynd12	T	C	4: 119,280,194 (GRCm39)		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
R4530: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'- CTGTTGAAACGGTTCCCTCTG -3'
(R):5'- TGTTTACAGTCACATGAACACATG -3'

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

Posted On

2015-08-18