Mutagenetix > Incidental Mutations

Incidental Mutation 'R2571:Ttc13'

252545

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

MMRRC Submission

040429-MU

Accession Numbers

Genbank: NM_145607; MGI: 28881

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124683799 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 372 (Y372D)

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041614
AA Change: Y372D

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

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: Y372D

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: Y394D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: Y394D

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: Y448D

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

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: Y448D

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: ENSMUST00000131633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140350

Predicted Effect

probably damaging
Transcript: ENSMUST00000214828
AA Change: Y501D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: Y372D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,249,885	N2438S	probably benign	Het
Ago3	G	A	4: 126,363,811	R476W	probably damaging	Het
Akap8	T	C	17: 32,315,455	E339G	probably damaging	Het
Apba2	T	C	7: 64,745,750	V658A	probably damaging	Het
BC049730	A	G	7: 24,713,394	I76V	probably benign	Het
Bcl3	T	C	7: 19,809,527	D338G	probably damaging	Het
Ccdc138	T	C	10: 58,513,222	Y197H	probably benign	Het
Ccdc162	T	A	10: 41,552,397	Q499L	probably damaging	Het
Ccser1	G	A	6: 61,422,960	C21Y	probably damaging	Het
Chil6	A	T	3: 106,390,393	Y229*	probably null	Het
Cntnap5a	C	T	1: 116,184,362	R461C	probably damaging	Het
Col19a1	T	A	1: 24,374,631	R407S	unknown	Het
Crlf3	A	T	11: 80,047,513	F433I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dnah10	A	T	5: 124,775,478	R1867W	probably damaging	Het
Dsg3	T	C	18: 20,540,005	V911A	probably benign	Het
Dzip3	T	C	16: 48,972,218		probably null	Het
Evpl	T	C	11: 116,237,969	Q10R	unknown	Het
Glra3	C	T	8: 56,110,481	A337V	probably benign	Het
Gm8909	C	T	17: 36,167,661	G132R	possibly damaging	Het
Hcfc2	T	C	10: 82,709,023	F163S	probably damaging	Het
Hells	T	C	19: 38,959,733	V701A	possibly damaging	Het
Helz	A	G	11: 107,613,952	T422A	probably benign	Het
Hhat	G	A	1: 192,553,022	T442I	probably damaging	Het
Hmces	A	T	6: 87,936,220	Q319L	possibly damaging	Het
Ighv1-62-1	T	A	12: 115,386,757	T97S	probably damaging	Het
Impad1	C	T	4: 4,778,192		probably null	Het
Kcne2	C	T	16: 92,296,912	T109I	probably damaging	Het
Kcnq1	T	G	7: 143,107,696	L113R	probably benign	Het
Kdm5d	T	C	Y: 940,932	S1106P	probably benign	Het
Kel	C	A	6: 41,688,067	A588S	possibly damaging	Het
Kmt2e	T	A	5: 23,501,887	F1483I	probably benign	Het
Krt4	T	A	15: 101,921,257	N279Y	probably damaging	Het
Lama4	T	A	10: 39,042,675	M384K	possibly damaging	Het
Lepr	C	T	4: 101,768,172	T508I	possibly damaging	Het
Map1lc3b	T	A	8: 121,593,474		probably null	Het
Me1	T	C	9: 86,654,698	H108R	probably damaging	Het
Mindy4	T	C	6: 55,284,785	S560P	probably damaging	Het
Mmp3	T	A	9: 7,451,844	I394N	possibly damaging	Het
Mmrn2	T	C	14: 34,402,939	S826P	probably damaging	Het
Olfr702	T	A	7: 106,823,726	M267L	probably benign	Het
Osbpl7	T	C	11: 97,054,841	L138P	probably damaging	Het
Pcdhga11	G	A	18: 37,756,868	E310K	probably damaging	Het
Pcif1	A	G	2: 164,884,211	D39G	probably damaging	Het
Ppp1r21	C	T	17: 88,545,382	T63I	probably benign	Het
Prickle2	T	C	6: 92,705,400	Q25R	probably benign	Het
Ptk2	A	G	15: 73,231,919	L94P	probably damaging	Het
Ptprg	T	C	14: 12,122,135	F333S	probably benign	Het
Rag2	T	A	2: 101,629,967	H207Q	probably damaging	Het
Rps6ka1	G	T	4: 133,860,612		probably null	Het
Rps6ka4	G	T	19: 6,838,103	H174Q	probably damaging	Het
Rreb1	C	A	13: 37,899,637	T92K	probably damaging	Het
Ryr1	A	T	7: 29,009,562	M4793K	unknown	Het
Ryr1	T	A	7: 29,036,126	M4076L	possibly damaging	Het
Sec16a	A	C	2: 26,439,331	S891A	probably benign	Het
Sgsh	A	G	11: 119,350,514	Y132H	probably damaging	Het
Sos2	T	A	12: 69,635,718	E242V	possibly damaging	Het
Spata31d1c	G	T	13: 65,036,384	R580L	probably damaging	Het
Spata9	C	A	13: 75,967,761		probably benign	Het
Tead2	T	A	7: 45,225,770	V202E	probably damaging	Het
Thada	T	C	17: 84,454,640	K168E	probably damaging	Het
Tmem64	T	C	4: 15,266,718	I256T	probably damaging	Het
Tra2a	G	T	6: 49,252,487		probably benign	Het
Trim30a	T	A	7: 104,429,326	N181I	possibly damaging	Het
Vit	T	C	17: 78,586,745	V192A	probably benign	Het
Vmn2r69	T	C	7: 85,415,556	T41A	probably benign	Het
Vps13d	C	A	4: 145,149,136	K1600N	probably benign	Het
Xpnpep3	A	T	15: 81,450,926	H420L	probably damaging	Het
Zfp322a	A	G	13: 23,356,444	L376P	probably damaging	Het
Zfp619	T	C	7: 39,537,171	L875P	probably damaging	Het
Zic5	T	A	14: 122,459,478	Q575L	unknown	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
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
X0027:Ttc13	UTSW	8	124673589	missense	probably benign
Z1176:Ttc13	UTSW	8	124694842	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGAGCTGGAAGAACTCACTG -3'
(R):5'- GCCACATGACTTGCAAAGAG -3'

Sequencing Primer
(F):5'- GAGCTGGAAGAACTCACTGAACTATC -3'
(R):5'- CCACATGACTTGCAAAGAGTGGTTG -3'

Posted On

2014-12-04