Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Ttc13'

294190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

Accession Numbers

Genbank: NM_145607; MGI: 28881

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 124690361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

probably null
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 null
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 null
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

probably null
Transcript: ENSMUST00000214828

Predicted Effect

probably null
Transcript: ENSMUST00000231984

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly 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
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
R5619:Ttc13	UTSW	8	124679944	intron	probably benign
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
R8769:Ttc13	UTSW	8	124679077	missense	possibly damaging	0.71
R8792:Ttc13	UTSW	8	124674360	critical splice donor site	probably null
R8916:Ttc13	UTSW	8	124683237	missense	probably damaging	0.96
R8953:Ttc13	UTSW	8	124675349	missense	probably damaging	1.00
R9149:Ttc13	UTSW	8	124683300	missense	probably benign	0.01
R9151:Ttc13	UTSW	8	124675282	missense	probably benign	0.03
R9221:Ttc13	UTSW	8	124673551	missense	probably benign	0.20
R9251:Ttc13	UTSW	8	124675253	missense	probably benign	0.17
R9502:Ttc13	UTSW	8	124683271	missense	possibly damaging	0.93
R9600:Ttc13	UTSW	8	124688545	missense	probably benign	0.32
X0027:Ttc13	UTSW	8	124673589	missense	probably benign
Z1176:Ttc13	UTSW	8	124694842	missense	probably damaging	0.99

Posted On

2015-04-16