Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Ttc13'

671001

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 #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 124674360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038484 (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 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

probably benign
Transcript: ENSMUST00000214828

Predicted Effect

probably benign
Transcript: ENSMUST00000231984

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,909,496	I382T	probably damaging	Het
Adam39	G	T	8: 40,826,576	R668L	probably benign	Het
Adam6b	T	C	12: 113,491,690	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,688,675	E692G	probably damaging	Het
Asxl2	T	C	12: 3,496,536	L440P	probably benign	Het
Bmf	A	G	2: 118,546,905	F121L	probably damaging	Het
Cdk9	A	T	2: 32,708,257	F262L	probably benign	Het
Clock	T	A	5: 76,262,727	D99V	probably damaging	Het
Dnah14	A	T	1: 181,814,624	T102S		Het
Eps15	T	C	4: 109,305,711	V67A	probably benign	Het
Fam171b	T	A	2: 83,812,759	L4H	probably damaging	Het
Fam214b	G	A	4: 43,033,546	P536S	probably damaging	Het
Fam71d	C	T	12: 78,715,150	T196M	probably damaging	Het
Fcho2	T	A	13: 98,815,261		probably benign	Het
Gal3st4	C	T	5: 138,270,989	V70M	probably damaging	Het
Gif	C	A	19: 11,750,235	A141E	probably damaging	Het
Got1l1	C	A	8: 27,200,721		probably null	Het
Gpr146	A	G	5: 139,392,794	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,553,326	V346M	probably damaging	Het
Herc1	C	A	9: 66,465,486	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,981,794	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,927,788		probably benign	Het
Lama4	T	G	10: 39,048,052	I485M	probably benign	Het
Lrp4	C	T	2: 91,494,955	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,486,586	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,095,144	Q692*	probably null	Het
Mark2	G	T	19: 7,281,215	H570N	probably benign	Het
Mlph	T	C	1: 90,942,960		probably benign	Het
Mnx1	G	A	5: 29,478,374		probably benign	Het
Nkx2-2	A	T	2: 147,177,893	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,160,093	I1058V	probably benign	Het
Nwd2	T	C	5: 63,805,704	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,681,100	N509I	possibly damaging	Het
Olfr1226	T	C	2: 89,193,887	Y49C	probably benign	Het
Olfr1307	G	C	2: 111,944,728	H243D	probably damaging	Het
Olfr387-ps1	T	C	11: 73,664,645	L12P	probably damaging	Het
Pabpc6	T	C	17: 9,669,403	N73S	probably damaging	Het
Parp12	A	G	6: 39,089,050	F580L	probably benign	Het
Parvg	C	A	15: 84,328,959	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,449,488	V549A	probably damaging	Het
Pde8b	T	A	13: 95,043,026	H374L	probably benign	Het
Phf2	C	T	13: 48,817,505		probably benign	Het
Pld4	T	C	12: 112,763,490	F69L	probably benign	Het
Qrich2	T	C	11: 116,456,630	I1123V	unknown	Het
Rida	C	T	15: 34,495,096	V8M	possibly damaging	Het
Rnf19b	T	A	4: 129,058,685	C139S	probably damaging	Het
Rp1	T	C	1: 4,024,868	I1254M	unknown	Het
Rpl3l	A	G	17: 24,728,473	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 33,838,959	I147N	possibly damaging	Het
Slc12a4	G	A	8: 105,946,758	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,928,340	R59*	probably null	Het
Strc	T	A	2: 121,377,805	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 50,799,934		probably benign	Het
Tll1	T	A	8: 64,085,465	T382S	probably damaging	Het
Tmem246	T	C	4: 49,587,067	T34A	possibly damaging	Het
Tmprss6	T	A	15: 78,444,128	D556V	probably damaging	Het
Ttc30a1	C	A	2: 75,981,554	E62*	probably null	Het
Usp43	T	A	11: 67,876,418	K709*	probably null	Het
Vcan	A	T	13: 89,692,111	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,523,161	I81V	probably benign	Het
Zxdc	A	G	6: 90,370,004	T116A	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
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
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'- TAAATCCCCTTCATGGTTGGCC -3'
(R):5'- TTTCTAACTAAGCACGCCAGCC -3'

Sequencing Primer
(F):5'- GTCTCCTCAGGGTTACCATTAAAGG -3'
(R):5'- TAAGCACGCCAGCCCTGAG -3'

Posted On

2021-04-30