Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Ttc13'

396214

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125398071-125448722 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 125421674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 250 (Y250*)

Ref Sequence

ENSEMBL: ENSMUSP00000149848 (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 null
Transcript: ENSMUST00000118134
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: Y197*

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 null
Transcript: ENSMUST00000214828
AA Change: Y250*

Predicted Effect

probably benign
Transcript: ENSMUST00000215563

Predicted Effect

probably benign
Transcript: ENSMUST00000231984

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	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
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'- GGCATCGGATCAATTCCTCTAAG -3'
(R):5'- GTCCTGGAAAGGCTGAGATTG -3'

Sequencing Primer
(F):5'- GGATCAATTCCTCTAAGTCCCC -3'
(R):5'- ATTAGGCCTCTGTGAACACCACTTAG -3'

Posted On

2016-06-21