Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Ttc13'

183672

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124688882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 245 (L245R)

Ref Sequence

ENSEMBL: ENSMUSP00000114043 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041614
AA Change: L223R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: L223R

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: L245R

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

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: L245R

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: L299R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: L299R

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: L352R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: L223R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,163,845		probably benign	Het
AI661453	C	A	17: 47,468,517		probably benign	Het
Arhgap29	G	A	3: 122,014,328	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,928,655	S1029P	probably benign	Het
Arpc5l	T	C	2: 39,008,214	S7P	probably damaging	Het
Asf1b	A	G	8: 83,955,904	I26V	probably benign	Het
Cep95	T	C	11: 106,806,371	L240P	probably damaging	Het
Cnmd	A	G	14: 79,642,068		probably benign	Het
Cntn3	T	A	6: 102,203,885	N783I	probably damaging	Het
Col6a2	C	A	10: 76,604,842		probably benign	Het
Col9a2	T	C	4: 121,050,410		probably null	Het
Cry2	T	C	2: 92,424,632	E126G	probably benign	Het
Cxcl15	T	C	5: 90,794,608	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,583,899	D510G	probably benign	Het
Dct	A	G	14: 118,034,243	F392L	probably damaging	Het
Dgkz	A	G	2: 91,934,050		probably benign	Het
Dhrs7b	A	G	11: 60,830,715	I2V	probably benign	Het
Efnb3	A	T	11: 69,556,904		probably null	Het
Fbf1	T	A	11: 116,151,020	R565S	probably null	Het
Gimap5	T	C	6: 48,752,793	I99T	probably damaging	Het
Gm9912	A	G	3: 149,185,449	L16P	unknown	Het
Gpr17	A	G	18: 31,947,134	L292P	probably damaging	Het
Hdac10	C	T	15: 89,127,598	V129M	probably damaging	Het
Mfap3l	A	G	8: 60,671,464	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,084,420	S86R	probably damaging	Het
Mylk3	A	G	8: 85,359,261	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567	C745S	probably damaging	Het
Nudt13	A	T	14: 20,306,317	E103D	probably damaging	Het
Olfr1129	A	G	2: 87,575,462	Y126C	probably damaging	Het
Olfr395	A	G	11: 73,907,435	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,857,371	A324S	probably benign	Het
Pofut2	T	C	10: 77,260,681	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,636,816	D821G	probably damaging	Het
Rnf10	T	A	5: 115,251,102	K273*	probably null	Het
Slc4a9	A	G	18: 36,539,775	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,444,020	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,143,471	T159S	probably benign	Het
Tom1l1	G	A	11: 90,649,861	P327S	probably damaging	Het
Trim3	A	G	7: 105,618,482		probably benign	Het
Trpm6	A	C	19: 18,830,327		probably benign	Het
Txnrd1	T	A	10: 82,877,284	V60E	probably damaging	Het
Ung	T	A	5: 114,136,386	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294	V30A	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
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
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

2014-05-07