Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:Ttc13'

80013

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 #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124683285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 525 (Q525P)

Ref Sequence

ENSEMBL: ENSMUSP00000149848 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041614
AA Change: Q396P

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

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: Q396P

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: Q418P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: Q418P

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: Q472P

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

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: Q472P

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: Q525P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: Q396P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,911,229	E36K	possibly damaging	Het
Alox8	A	T	11: 69,188,690	S257R	probably benign	Het
Apc2	T	C	10: 80,315,078	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,564,267	N291S	probably benign	Het
AW551984	A	T	9: 39,593,791	D468E	possibly damaging	Het
B3gnt6	A	C	7: 98,194,523	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,609,061	M1L	probably benign	Het
Calm3	T	C	7: 16,917,484	T63A	probably benign	Het
Ccdc33	G	A	9: 58,117,636		probably benign	Het
Cdh4	C	T	2: 179,780,403	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,382,366	E15G	probably damaging	Het
Chil6	A	G	3: 106,388,825	W365R	probably damaging	Het
Ckap5	G	T	2: 91,601,011	R1525L	probably benign	Het
Col6a6	T	A	9: 105,785,958	K127*	probably null	Het
Dclre1b	A	G	3: 103,803,323	V298A	probably damaging	Het
Fat1	T	A	8: 45,026,800	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483	D126G	probably benign	Het
Gpc1	T	C	1: 92,857,014	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,191,814	V698D	probably damaging	Het
Itpr2	C	T	6: 146,376,062		probably null	Het
Klhl4	A	T	X: 114,522,394	D168V	probably damaging	Het
Krt42	A	G	11: 100,263,341	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,581,765	C85*	probably null	Het
Lrp2	A	G	2: 69,482,267	L2559P	probably damaging	Het
Maob	T	G	X: 16,712,569	R448S	possibly damaging	Het
Mast3	A	G	8: 70,779,583	V1250A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,970,727	V286M	probably damaging	Het
Mlip	A	G	9: 77,239,417	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,231,377	V248A	probably damaging	Het
Nxf2	T	A	X: 134,952,112	R367S	probably benign	Het
Olfr1404	T	G	1: 173,216,128	V159G	probably benign	Het
Olfr617	T	C	7: 103,584,117	W32R	probably damaging	Het
Parva	T	C	7: 112,577,010		probably benign	Het
Pot1a	A	T	6: 25,750,144		probably benign	Het
Ptpra	T	C	2: 130,544,439	I603T	probably damaging	Het
Rad9a	T	C	19: 4,201,337	K33E	probably benign	Het
Rimbp3	A	G	16: 17,211,094	D794G	probably damaging	Het
Sept5	G	A	16: 18,624,930	R90C	probably damaging	Het
Skint8	T	A	4: 111,936,906	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,090,080	I73L	probably benign	Het
Stab2	A	T	10: 86,980,008		probably benign	Het
Tnc	C	T	4: 64,000,722	V1155M	probably damaging	Het
Ttn	T	C	2: 76,720,135	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,002,928	D577V	probably damaging	Het
Usp18	G	A	6: 121,261,421	V176M	probably benign	Het
Vmn1r184	T	C	7: 26,266,895	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,611,881	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,129,404	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,471,020	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,472,560	V603G	probably benign	Het
Wt1	A	G	2: 105,132,974	Y16C	probably damaging	Het
Wwp2	C	T	8: 107,506,345	T159I	probably benign	Het
Xirp2	T	C	2: 67,514,083	F2223L	probably benign	Het
Zan	T	A	5: 137,388,893	H4966L	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
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
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

2013-11-05