Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Ttc13'

533491

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

MMRRC Submission

Accession Numbers

Genbank: NM_145607; MGI: 28881

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6804 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124699687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 168 (R168L)

Ref Sequence

ENSEMBL: ENSMUSP00000149848 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

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
AA Change: R168L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: R168L

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

probably damaging
Transcript: ENSMUST00000214828
AA Change: R168L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231984

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,869,047	T110A	possibly damaging	Het
Aox2	A	T	1: 58,304,598	Q480L	probably benign	Het
Arid4b	T	A	13: 14,129,207	D72E	probably benign	Het
Avil	C	T	10: 127,008,306	Q245*	probably null	Het
BC048679	T	C	7: 81,496,864	S2G	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1d	T	C	14: 30,051,665	T1723A	probably benign	Het
Chil3	A	T	3: 106,164,179	Y56*	probably null	Het
Clec2i	A	G	6: 128,895,421	E172G	probably damaging	Het
Crybg1	C	T	10: 43,966,341	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,037,246	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 104,149,026	S2019A	possibly damaging	Het
Ep300	T	A	15: 81,641,311	Y1445*	probably null	Het
Gne	A	G	4: 44,060,210	I61T	probably damaging	Het
Ifit3b	A	T	19: 34,611,547	Q41L	possibly damaging	Het
Llgl2	A	G	11: 115,843,315		probably null	Het
Maats1	T	C	16: 38,332,242	D202G	probably damaging	Het
Mast3	T	C	8: 70,786,732	I417V	probably benign	Het
Mettl21e	T	A	1: 44,218,135	I8F	probably benign	Het
Ms4a2	A	G	19: 11,617,535	Y183H	probably damaging	Het
Naip6	C	G	13: 100,299,167	E949D	probably benign	Het
Nbea	T	C	3: 56,087,453	T181A	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfm3	A	T	3: 115,122,679	Y400F	probably benign	Het
Olfr102	A	G	17: 37,314,130	S85P	probably damaging	Het
Olfr1391	A	G	11: 49,327,981	D190G	probably benign	Het
Olfr393	A	G	11: 73,847,414	V237A	probably benign	Het
Olfr447	A	T	6: 42,911,918	T132S	probably benign	Het
Pappa2	T	C	1: 158,936,868	S358G	probably benign	Het
Pde4dip	C	A	3: 97,793,248	E259*	probably null	Het
Phlpp2	T	A	8: 109,928,565	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,499,809	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Saal1	GGCTTGCACGCCGT	G	7: 46,699,640		probably null	Het
Sec31a	C	T	5: 100,382,812	V701I	probably benign	Het
Smarca2	A	T	19: 26,751,886	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,953,630	C537*	probably null	Het
Syt14	T	C	1: 192,901,853	E701G	probably damaging	Het
Taf3	T	C	2: 9,918,217	Y32C	possibly damaging	Het
Tfeb	T	C	17: 47,789,810		probably null	Het
Vmn2r11	T	A	5: 109,053,484	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,865	K367R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCACTGACTTGGAAGACACAG -3'
(R):5'- AGGTTTCAGGTCTGGGACTC -3'

Sequencing Primer
(F):5'- TCCACCTTCTAGGCATGGCAC -3'
(R):5'- GGACTCCAGCGTCACCAAG -3'

Posted On

2018-09-12