Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Ttc13'

389648

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4998 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125398071-125448722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125406795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 595 (N595K)

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: N466K

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

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: N466K

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: N488K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: N488K

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: N542K

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

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: N542K

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: ENSMUST00000130344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140350

Predicted Effect

probably damaging
Transcript: ENSMUST00000214828
AA Change: N595K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: N466K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly damaging	Het

Other mutations in Ttc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ttc13	APN	8	125,415,586 (GRCm39)	splice site	probably benign
IGL01086:Ttc13	APN	8	125,402,085 (GRCm39)	missense	probably damaging	0.98
IGL01411:Ttc13	APN	8	125,410,024 (GRCm39)	missense	probably damaging	1.00
IGL01511:Ttc13	APN	8	125,403,110 (GRCm39)	missense	probably damaging	1.00
IGL01610:Ttc13	APN	8	125,403,083 (GRCm39)	missense	probably damaging	1.00
IGL01626:Ttc13	APN	8	125,400,477 (GRCm39)	splice site	probably benign
IGL01967:Ttc13	APN	8	125,439,386 (GRCm39)	missense	probably damaging	0.99
IGL01995:Ttc13	APN	8	125,415,621 (GRCm39)	missense	probably damaging	1.00
IGL02456:Ttc13	APN	8	125,417,100 (GRCm39)	critical splice acceptor site	probably null
IGL02816:Ttc13	APN	8	125,439,415 (GRCm39)	missense	possibly damaging	0.89
3-1:Ttc13	UTSW	8	125,405,748 (GRCm39)	missense	possibly damaging	0.81
LCD18:Ttc13	UTSW	8	125,402,605 (GRCm39)	intron	probably benign
R0126:Ttc13	UTSW	8	125,410,030 (GRCm39)	missense	probably damaging	0.99
R0391:Ttc13	UTSW	8	125,401,140 (GRCm39)	missense	probably damaging	1.00
R0602:Ttc13	UTSW	8	125,401,105 (GRCm39)	missense	probably damaging	0.99
R0629:Ttc13	UTSW	8	125,401,105 (GRCm39)	missense	probably damaging	0.99
R0638:Ttc13	UTSW	8	125,401,105 (GRCm39)	missense	probably damaging	0.99
R0714:Ttc13	UTSW	8	125,401,105 (GRCm39)	missense	probably damaging	0.99
R1981:Ttc13	UTSW	8	125,440,926 (GRCm39)	critical splice donor site	probably null
R2051:Ttc13	UTSW	8	125,398,950 (GRCm39)	splice site	probably null
R2324:Ttc13	UTSW	8	125,405,796 (GRCm39)	missense	probably damaging	1.00
R2404:Ttc13	UTSW	8	125,405,736 (GRCm39)	splice site	probably benign
R2571:Ttc13	UTSW	8	125,410,538 (GRCm39)	missense	probably damaging	1.00
R3110:Ttc13	UTSW	8	125,410,573 (GRCm39)	missense	possibly damaging	0.90
R3112:Ttc13	UTSW	8	125,410,573 (GRCm39)	missense	possibly damaging	0.90
R4560:Ttc13	UTSW	8	125,402,016 (GRCm39)	missense	probably damaging	1.00
R4562:Ttc13	UTSW	8	125,402,016 (GRCm39)	missense	probably damaging	1.00
R4563:Ttc13	UTSW	8	125,402,016 (GRCm39)	missense	probably damaging	1.00
R4565:Ttc13	UTSW	8	125,408,826 (GRCm39)	missense	probably damaging	1.00
R4855:Ttc13	UTSW	8	125,401,174 (GRCm39)	missense	probably damaging	1.00
R5137:Ttc13	UTSW	8	125,421,674 (GRCm39)	nonsense	probably null
R5397:Ttc13	UTSW	8	125,402,002 (GRCm39)	missense	possibly damaging	0.94
R5619:Ttc13	UTSW	8	125,406,683 (GRCm39)	intron	probably benign
R5966:Ttc13	UTSW	8	125,408,959 (GRCm39)	intron	probably benign
R6092:Ttc13	UTSW	8	125,405,772 (GRCm39)	missense	probably benign	0.36
R6321:Ttc13	UTSW	8	125,409,930 (GRCm39)	missense	probably damaging	1.00
R6439:Ttc13	UTSW	8	125,400,221 (GRCm39)	missense	probably benign	0.02
R6737:Ttc13	UTSW	8	125,408,900 (GRCm39)	critical splice acceptor site	probably null
R6804:Ttc13	UTSW	8	125,426,426 (GRCm39)	missense	probably damaging	1.00
R6967:Ttc13	UTSW	8	125,415,357 (GRCm39)	missense	probably benign	0.17
R7542:Ttc13	UTSW	8	125,401,842 (GRCm39)	splice site	probably null
R7905:Ttc13	UTSW	8	125,415,335 (GRCm39)	missense	probably benign	0.09
R8769:Ttc13	UTSW	8	125,405,816 (GRCm39)	missense	possibly damaging	0.71
R8792:Ttc13	UTSW	8	125,401,099 (GRCm39)	critical splice donor site	probably null
R8916:Ttc13	UTSW	8	125,409,976 (GRCm39)	missense	probably damaging	0.96
R8953:Ttc13	UTSW	8	125,402,088 (GRCm39)	missense	probably damaging	1.00
R9149:Ttc13	UTSW	8	125,410,039 (GRCm39)	missense	probably benign	0.01
R9151:Ttc13	UTSW	8	125,402,021 (GRCm39)	missense	probably benign	0.03
R9221:Ttc13	UTSW	8	125,400,290 (GRCm39)	missense	probably benign	0.20
R9251:Ttc13	UTSW	8	125,401,992 (GRCm39)	missense	probably benign	0.17
R9502:Ttc13	UTSW	8	125,410,010 (GRCm39)	missense	possibly damaging	0.93
R9600:Ttc13	UTSW	8	125,415,284 (GRCm39)	missense	probably benign	0.32
X0027:Ttc13	UTSW	8	125,400,328 (GRCm39)	missense	probably benign
Z1176:Ttc13	UTSW	8	125,421,581 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAGGCCAACACTGTGAAGC -3'
(R):5'- TGGACACTTTCTGCCAGGAC -3'

Sequencing Primer
(F):5'- ACACTGTGAAGCCATTACTCTGG -3'
(R):5'- GACACTTTCTGCCAGGACAGATTC -3'

Posted On

2016-06-06