Mutagenetix > Incidental Mutations

Incidental Mutation 'R5619:Ttc13'

439716

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

MMRRC Submission

043278-MU

Accession Numbers

Genbank: NM_145607; MGI: 28881

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 124679944 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041614] [ENSMUST00000117624] [ENSMUST00000118134] [ENSMUST00000214828] [ENSMUST00000231984]

Predicted Effect

probably benign
Transcript: ENSMUST00000041614

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:TPR_11	153	204	3e-8	PFAM
Pfam:TPR_19	154	213	5.1e-8	PFAM
Pfam:TPR_1	173	206	6.1e-10	PFAM
Pfam:TPR_2	173	206	1.2e-7	PFAM
Pfam:TPR_8	173	206	5.2e-8	PFAM
Pfam:TPR_16	177	241	6.5e-11	PFAM
Pfam:TPR_9	179	249	3.5e-6	PFAM
Pfam:TPR_11	204	272	2.2e-8	PFAM
Pfam:TPR_1	207	240	3.3e-5	PFAM
Pfam:TPR_2	207	240	1.9e-5	PFAM
Blast:UTG	692	755	4e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000117624

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Blast:TPR	128	161	2e-13	BLAST
TPR	162	194	1.08e1	SMART
TPR	195	228	2.24e-7	SMART
TPR	229	262	3.67e-3	SMART
Blast:UTG	714	777	4e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000118134

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Blast:TPR	128	156	4e-10	BLAST
TPR	181	214	5.56e-3	SMART
TPR	215	248	1.17e-1	SMART
TPR	249	282	2.24e-7	SMART
TPR	283	316	3.67e-3	SMART
Blast:UTG	768	831	1e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140350

Predicted Effect

probably benign
Transcript: ENSMUST00000214828

Predicted Effect

probably benign
Transcript: ENSMUST00000231984

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
4931423N10Rik	T	C	2: 23,257,005		probably null	Het
Adgre1	T	G	17: 57,420,437	L456V	probably benign	Het
Adgrv1	C	T	13: 81,472,500	G3943R	probably damaging	Het
Akap9	A	G	5: 3,954,760		probably benign	Het
Atp1a2	T	A	1: 172,279,381	I791F	probably damaging	Het
BC003965	G	A	17: 25,184,989	S101N	probably damaging	Het
BC004004	C	G	17: 29,282,729	P81A	probably damaging	Het
Brca2	C	A	5: 150,557,114	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,742,361	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,103,622	S445F	probably benign	Het
Comt	T	C	16: 18,411,719	E80G	probably damaging	Het
Coq7	T	C	7: 118,527,486		probably benign	Het
Coro7	C	A	16: 4,676,935		probably null	Het
Cyp2c40	A	G	19: 39,803,784	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,435	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885	I2193M	probably benign	Het
Eipr1	A	G	12: 28,867,079	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,739,310	H447Q	probably benign	Het
Galk2	A	T	2: 125,975,397	R369*	probably null	Het
Gli2	G	A	1: 118,836,755	A1222V	probably benign	Het
Golim4	T	A	3: 75,906,495	K141*	probably null	Het
Gtpbp3	G	T	8: 71,491,048		probably benign	Het
Gzmd	C	T	14: 56,129,767	A223T	probably benign	Het
Igf2r	T	C	17: 12,739,334	R151G	probably damaging	Het
Itga8	T	A	2: 12,265,328	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,258,145		probably null	Het
Klhl25	T	C	7: 75,866,854	Y198H	probably benign	Het
Klhl29	A	T	12: 5,140,587	M136K	probably benign	Het
Lipf	A	T	19: 33,966,892	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,929,879		probably null	Het
Myo1a	T	A	10: 127,718,544	N794K	probably benign	Het
Nmrk1	T	C	19: 18,645,088	L177P	possibly damaging	Het
Noxa1	C	T	2: 25,085,976	E401K	probably damaging	Het
Olfr1276	A	T	2: 111,257,511	Y132F	probably damaging	Het
Olfr980	T	A	9: 40,006,743	M69L	probably benign	Het
Ostm1	T	A	10: 42,679,329	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,715,747	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,484,659	K276R	probably benign	Het
Pfkp	A	T	13: 6,598,729		probably benign	Het
Pitpnm1	A	G	19: 4,103,270	D142G	probably damaging	Het
Pkp3	T	C	7: 141,088,506	L556P	probably damaging	Het
Plb1	C	A	5: 32,333,497	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,162,809	S770G	possibly damaging	Het
Polk	A	T	13: 96,483,556	I733N	probably damaging	Het
Prkg2	C	A	5: 98,988,297	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,238,572	T189A	probably benign	Het
Raph1	T	C	1: 60,490,255		probably benign	Het
Rbm22	T	A	18: 60,560,827	M1K	probably null	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf186	T	A	4: 138,967,404	I85N	probably benign	Het
Ryr2	C	A	13: 11,708,202	R2517L	probably damaging	Het
Sec63	T	A	10: 42,789,382	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 107,047,108	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,496,222	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,111,881	D1000E	probably benign	Het
Spata46	A	T	1: 170,308,921	I14F	probably damaging	Het
Speer4b	T	C	5: 27,498,817	H106R	possibly damaging	Het
Spint4	T	C	2: 164,700,841	L118P	probably benign	Het
Sptbn5	A	G	2: 120,050,132		noncoding transcript	Het
Tgfbr3	A	T	5: 107,140,514	I427N	probably benign	Het
Thbs2	C	A	17: 14,681,244	C491F	probably damaging	Het
Tmem232	T	A	17: 65,486,511	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,198	C585*	probably null	Het
Tuba8	C	T	6: 121,225,895	A389V	probably damaging	Het
Usp25	A	G	16: 77,033,945	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,384,530	K681*	probably null	Het
Vmn2r88	A	G	14: 51,413,910	E235G	probably damaging	Het
Vps29	T	A	5: 122,354,448		probably benign	Het
Wdr1	A	C	5: 38,529,536	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,899,814	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,899,815	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,864,036	Y398H	probably damaging	Het

Other mutations in Ttc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ttc13	APN	8	124688847	splice site	probably benign
IGL01086:Ttc13	APN	8	124675346	missense	probably damaging	0.98
IGL01411:Ttc13	APN	8	124683285	missense	probably damaging	1.00
IGL01511:Ttc13	APN	8	124676371	missense	probably damaging	1.00
IGL01610:Ttc13	APN	8	124676344	missense	probably damaging	1.00
IGL01626:Ttc13	APN	8	124673738	splice site	probably benign
IGL01967:Ttc13	APN	8	124712647	missense	probably damaging	0.99
IGL01995:Ttc13	APN	8	124688882	missense	probably damaging	1.00
IGL02456:Ttc13	APN	8	124690361	critical splice acceptor site	probably null
IGL02816:Ttc13	APN	8	124712676	missense	possibly damaging	0.89
3-1:Ttc13	UTSW	8	124679009	missense	possibly damaging	0.81
LCD18:Ttc13	UTSW	8	124675866	intron	probably benign
R0126:Ttc13	UTSW	8	124683291	missense	probably damaging	0.99
R0391:Ttc13	UTSW	8	124674401	missense	probably damaging	1.00
R0602:Ttc13	UTSW	8	124674366	missense	probably damaging	0.99
R0629:Ttc13	UTSW	8	124674366	missense	probably damaging	0.99
R0638:Ttc13	UTSW	8	124674366	missense	probably damaging	0.99
R0714:Ttc13	UTSW	8	124674366	missense	probably damaging	0.99
R1981:Ttc13	UTSW	8	124714187	critical splice donor site	probably null
R2051:Ttc13	UTSW	8	124672211	splice site	probably null
R2324:Ttc13	UTSW	8	124679057	missense	probably damaging	1.00
R2404:Ttc13	UTSW	8	124678997	splice site	probably benign
R2571:Ttc13	UTSW	8	124683799	missense	probably damaging	1.00
R3110:Ttc13	UTSW	8	124683834	missense	possibly damaging	0.90
R3112:Ttc13	UTSW	8	124683834	missense	possibly damaging	0.90
R4560:Ttc13	UTSW	8	124675277	missense	probably damaging	1.00
R4562:Ttc13	UTSW	8	124675277	missense	probably damaging	1.00
R4563:Ttc13	UTSW	8	124675277	missense	probably damaging	1.00
R4565:Ttc13	UTSW	8	124682087	missense	probably damaging	1.00
R4855:Ttc13	UTSW	8	124674435	missense	probably damaging	1.00
R4998:Ttc13	UTSW	8	124680056	missense	probably damaging	1.00
R5137:Ttc13	UTSW	8	124694935	nonsense	probably null
R5397:Ttc13	UTSW	8	124675263	missense	possibly damaging	0.94
R5966:Ttc13	UTSW	8	124682220	intron	probably benign
R6092:Ttc13	UTSW	8	124679033	missense	probably benign	0.36
R6321:Ttc13	UTSW	8	124683191	missense	probably damaging	1.00
R6439:Ttc13	UTSW	8	124673482	missense	probably benign	0.02
R6737:Ttc13	UTSW	8	124682161	critical splice acceptor site	probably null
R6804:Ttc13	UTSW	8	124699687	missense	probably damaging	1.00
R6967:Ttc13	UTSW	8	124688618	missense	probably benign	0.17
R7542:Ttc13	UTSW	8	124675103	splice site	probably null
R7905:Ttc13	UTSW	8	124688596	missense	probably benign	0.09
X0027:Ttc13	UTSW	8	124673589	missense	probably benign
Z1176:Ttc13	UTSW	8	124694842	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAGGCCAACACTGTGAAGC -3'
(R):5'- TGGACACTTTCTGCCAGGAC -3'

Sequencing Primer
(F):5'- ACACTGTGAAGCCATTACTCTGG -3'
(R):5'- GACACTTTCTGCCAGGACAGATTC -3'

Posted On

2016-11-08