Mutagenetix > Incidental Mutations

Incidental Mutation 'R0638:Ttc13'

56820

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

MMRRC Submission

038827-MU

Accession Numbers

Genbank: NM_145607; MGI: 28881

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124674366 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 624 (S624T)

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041614
AA Change: S625T

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: S625T

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: S647T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: S647T

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: S701T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: S701T

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: ENSMUST00000130344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140350

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214828
AA Change: S753T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: S624T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.1038

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Efl1	C	T	7: 82,651,887	T33I	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fam83h	G	T	15: 76,003,927	H520Q	probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Polg	G	A	7: 79,460,148		probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Pus7l	A	G	15: 94,523,417	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	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
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
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
X0027:Ttc13	UTSW	8	124673589	missense	probably benign
Z1176:Ttc13	UTSW	8	124694842	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCTTCAGAGAGCAGCACACGG -3'
(R):5'- TTCTAACTAAGCACGCCAGCCCTG -3'

Sequencing Primer
(F):5'- acccacctgcctgtctc -3'
(R):5'- CCCTGAGAGAGGGCAGC -3'

Posted On

2013-07-11