Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Ttc13'

91977

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 #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124676344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 552 (D552G)

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

probably benign
Transcript: ENSMUST00000041614
AA Change: D553G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: D553G

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 damaging
Transcript: ENSMUST00000117624
AA Change: D575G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: D575G

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 damaging
Transcript: ENSMUST00000118134
AA Change: D629G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: D629G

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: ENSMUST00000126674

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

possibly damaging
Transcript: ENSMUST00000214828
AA Change: D681G

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: D552G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,199,566		probably benign	Het
2810474O19Rik	C	T	6: 149,328,951	T1165M	probably benign	Het
4921524J17Rik	T	C	8: 85,412,242	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,851,565		probably benign	Het
Abca15	T	A	7: 120,340,644	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,695	Y320C	probably damaging	Het
Acp6	T	A	3: 97,175,720	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,418,114	Q478K	probably damaging	Het
Akap13	A	T	7: 75,747,605	I2528F	probably damaging	Het
Akap13	A	G	7: 75,720,180	I1843V	possibly damaging	Het
Akap9	G	A	5: 4,032,839	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,413,547	V490M	probably damaging	Het
Aspm	C	T	1: 139,489,670	R1537*	probably null	Het
Bmf	G	A	2: 118,549,158	P46S	probably benign	Het
Brf1	T	A	12: 112,988,083	H92L	probably benign	Het
Chchd1	A	G	14: 20,703,177	N35S	probably benign	Het
Cntnap3	C	T	13: 64,757,301	G889S	probably damaging	Het
Col6a4	T	C	9: 106,047,707		probably benign	Het
Crispld1	A	G	1: 17,746,725		probably null	Het
Ddx27	T	C	2: 167,022,044		probably benign	Het
Dennd1b	A	G	1: 139,169,766		probably benign	Het
Dennd4a	T	C	9: 64,906,884	V1461A	probably damaging	Het
Drc7	C	T	8: 95,077,802	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,628,314	E13G	probably damaging	Het
Egf	A	G	3: 129,706,260		probably benign	Het
Hpse2	T	C	19: 43,384,789	S134G	probably benign	Het
Hydin	A	G	8: 110,557,713	T3206A	probably benign	Het
Ier5l	T	A	2: 30,473,954	S20C	probably damaging	Het
Il1r1	A	G	1: 40,302,400	E324G	probably benign	Het
Kdm4b	C	T	17: 56,353,522		probably benign	Het
Lztfl1	T	A	9: 123,700,091	E298D	probably benign	Het
Myo1b	A	T	1: 51,776,246	M647K	probably damaging	Het
Olfr1106	G	T	2: 87,048,288		probably benign	Het
Olfr539	C	T	7: 140,667,671	A128V	probably damaging	Het
Olfr619	A	T	7: 103,604,067	T138S	probably benign	Het
Parvb	A	T	15: 84,303,465	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359	S581A	probably benign	Het
Pcnx2	C	A	8: 125,839,633	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,211,350		probably benign	Het
Pgr	A	T	9: 8,903,691	H571L	possibly damaging	Het
Phf20	G	T	2: 156,302,889	E806*	probably null	Het
Pilra	T	A	5: 137,835,541	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,753,311	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,248,481	N708S	probably benign	Het
Rnase4	A	T	14: 51,104,921	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,466,299	T85S	probably benign	Het
Scaf8	C	T	17: 3,195,849	P738S	probably damaging	Het
Sec31a	A	T	5: 100,402,358		probably benign	Het
Sel1l	C	T	12: 91,817,290	V459I	probably damaging	Het
Senp7	A	T	16: 56,175,823	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,198,002	K151N	probably benign	Het
Slc8a3	A	G	12: 81,315,802	F81S	probably damaging	Het
Spire2	T	A	8: 123,356,763	L162Q	probably damaging	Het
Syt17	A	G	7: 118,433,993	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,704,044	V379D	probably damaging	Het
Tenm3	A	T	8: 48,254,477	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,319,575		noncoding transcript	Het
Tuba3a	G	T	6: 125,278,566	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 22,827,807	V103E	probably damaging	Het
Vmn1r80	A	G	7: 12,193,380	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,703,230	F141Y	probably damaging	Het
Zfp143	T	A	7: 110,074,126	Y143*	probably null	Het
Zfp207	T	A	11: 80,385,970	C26S	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
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
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

2013-12-09