Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Ttc13'

439716

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125398071-125448722 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 125406683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156040 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSC7

Predicted Effect

probably benign
Transcript: ENSMUST00000041614

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300

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 benign
Transcript: ENSMUST00000117624

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300

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 benign
Transcript: ENSMUST00000118134

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300

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 benign
Transcript: ENSMUST00000214828

Predicted Effect

probably benign
Transcript: ENSMUST00000231984

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	probably 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
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
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

2016-11-08