Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Ttc13'

263831

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125398071-125448722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125410573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 360 (I360T)

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041614
AA Change: I360T

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: I360T

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

possibly damaging
Transcript: ENSMUST00000117624
AA Change: I382T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: I382T

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

possibly damaging
Transcript: ENSMUST00000118134
AA Change: I436T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: I436T

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

possibly damaging
Transcript: ENSMUST00000214828
AA Change: I489T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231984
AA Change: I360T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.3181

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	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
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
R4998:Ttc13	UTSW	8	125,406,795 (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'- GGCTGAGTGCAGTAAACAAC -3'
(R):5'- CATGTGGTAGCAAACAGGCC -3'

Sequencing Primer
(F):5'- GGCTGAGTGCAGTAAACAACAATTTC -3'
(R):5'- CCACATGACTTGCAAAGAGTGGTTG -3'

Posted On

2015-02-05