Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Ttc13'

31699

Institutional Source

Beutler Lab

Gene Symbol

Ttc13

Ensembl Gene

ENSMUSG00000037300

Gene Name

tetratricopeptide repeat domain 13

Synonyms

MGC:28881

MMRRC Submission

038597-MU

Accession Numbers

Genbank: NM_145607; MGI: 28881

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124671332-124721983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124674401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 741 (Y741F)

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: Y613F

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

SMART Domains

Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: Y613F

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: Y635F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: Y635F

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: Y689F

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

SMART Domains

Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: Y689F

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: ENSMUST00000126674

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: Y741F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231984
AA Change: Y612F

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

Meta Mutation Damage Score

0.3388

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177 (GRCm38)		probably benign	Het
Abcc2	G	A	19: 43,821,605 (GRCm38)		probably benign	Het
Abcc8	C	G	7: 46,122,173 (GRCm38)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200 (GRCm38)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277 (GRCm38)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842 (GRCm38)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921 (GRCm38)	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614 (GRCm38)		probably benign	Het
Catsperd	A	T	17: 56,662,821 (GRCm38)	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253 (GRCm38)		probably null	Het
Cfap100	C	T	6: 90,405,339 (GRCm38)		probably benign	Het
Chd1	G	T	17: 15,749,894 (GRCm38)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259 (GRCm38)		probably benign	Het
Col17a1	C	T	19: 47,663,824 (GRCm38)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725 (GRCm38)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775 (GRCm38)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573 (GRCm38)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm38)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506 (GRCm38)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169 (GRCm38)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214 (GRCm38)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916 (GRCm38)		probably benign	Het
Eci1	G	A	17: 24,433,260 (GRCm38)		probably null	Het
Efhc1	A	G	1: 20,960,188 (GRCm38)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178 (GRCm38)	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499 (GRCm38)		probably benign	Het
Ghrl	T	C	6: 113,719,338 (GRCm38)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101 (GRCm38)	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535 (GRCm38)		probably benign	Het
Ift172	A	G	5: 31,286,667 (GRCm38)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979 (GRCm38)		probably benign	Het
Il17rb	G	T	14: 30,006,155 (GRCm38)		probably null	Het
Il17rb	T	C	14: 30,004,347 (GRCm38)	N95D	probably benign	Het
Iqub	G	A	6: 24,446,155 (GRCm38)	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167 (GRCm38)	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773 (GRCm38)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727 (GRCm38)	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363 (GRCm38)	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066 (GRCm38)	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314 (GRCm38)		probably benign	Het
Lrp2	G	A	2: 69,460,337 (GRCm38)		probably benign	Het
Lrp2	T	A	2: 69,456,858 (GRCm38)	D3745V	probably damaging	Het
Lvrn	A	T	18: 46,850,466 (GRCm38)	H92L	probably benign	Het
March1	A	G	8: 66,418,973 (GRCm38)	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416 (GRCm38)	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570 (GRCm38)		probably benign	Het
Mpp4	A	T	1: 59,143,829 (GRCm38)		probably benign	Het
Mrnip	G	A	11: 50,199,920 (GRCm38)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082 (GRCm38)	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507 (GRCm38)		probably benign	Het
Nbea	A	T	3: 56,037,277 (GRCm38)	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476 (GRCm38)		probably benign	Het
Nmur1	A	T	1: 86,387,678 (GRCm38)	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778 (GRCm38)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023 (GRCm38)	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842 (GRCm38)	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109 (GRCm38)	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187 (GRCm38)	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668 (GRCm38)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573 (GRCm38)	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081 (GRCm38)	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775 (GRCm38)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714 (GRCm38)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697 (GRCm38)	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173 (GRCm38)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm38)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282 (GRCm38)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045 (GRCm38)		probably null	Het
Slc28a3	A	G	13: 58,569,415 (GRCm38)		probably benign	Het
Smad2	A	T	18: 76,289,037 (GRCm38)		probably null	Het
Smad4	G	A	18: 73,658,649 (GRCm38)	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154 (GRCm38)	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753 (GRCm38)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887 (GRCm38)	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418 (GRCm38)	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144 (GRCm38)	K680R	probably benign	Het
Stil	A	G	4: 115,041,172 (GRCm38)		probably null	Het
Sympk	T	A	7: 19,046,849 (GRCm38)	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546 (GRCm38)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm38)	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661 (GRCm38)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930 (GRCm38)		probably null	Het
Tshz1	A	G	18: 84,016,049 (GRCm38)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808 (GRCm38)	D177G	probably damaging	Het
Ulk3	C	T	9: 57,594,832 (GRCm38)	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333 (GRCm38)		probably benign	Het
V1rd19	A	C	7: 24,003,585 (GRCm38)	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486 (GRCm38)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588 (GRCm38)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978 (GRCm38)	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579 (GRCm38)	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133 (GRCm38)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm38)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670 (GRCm38)	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451 (GRCm38)	N123K	possibly damaging	Het

Other mutations in Ttc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ttc13	APN	8	124,688,847 (GRCm38)	splice site	probably benign
IGL01086:Ttc13	APN	8	124,675,346 (GRCm38)	missense	probably damaging	0.98
IGL01411:Ttc13	APN	8	124,683,285 (GRCm38)	missense	probably damaging	1.00
IGL01511:Ttc13	APN	8	124,676,371 (GRCm38)	missense	probably damaging	1.00
IGL01610:Ttc13	APN	8	124,676,344 (GRCm38)	missense	probably damaging	1.00
IGL01626:Ttc13	APN	8	124,673,738 (GRCm38)	splice site	probably benign
IGL01967:Ttc13	APN	8	124,712,647 (GRCm38)	missense	probably damaging	0.99
IGL01995:Ttc13	APN	8	124,688,882 (GRCm38)	missense	probably damaging	1.00
IGL02456:Ttc13	APN	8	124,690,361 (GRCm38)	critical splice acceptor site	probably null
IGL02816:Ttc13	APN	8	124,712,676 (GRCm38)	missense	possibly damaging	0.89
3-1:Ttc13	UTSW	8	124,679,009 (GRCm38)	missense	possibly damaging	0.81
LCD18:Ttc13	UTSW	8	124,675,866 (GRCm38)	intron	probably benign
R0126:Ttc13	UTSW	8	124,683,291 (GRCm38)	missense	probably damaging	0.99
R0602:Ttc13	UTSW	8	124,674,366 (GRCm38)	missense	probably damaging	0.99
R0629:Ttc13	UTSW	8	124,674,366 (GRCm38)	missense	probably damaging	0.99
R0638:Ttc13	UTSW	8	124,674,366 (GRCm38)	missense	probably damaging	0.99
R0714:Ttc13	UTSW	8	124,674,366 (GRCm38)	missense	probably damaging	0.99
R1981:Ttc13	UTSW	8	124,714,187 (GRCm38)	critical splice donor site	probably null
R2051:Ttc13	UTSW	8	124,672,211 (GRCm38)	splice site	probably null
R2324:Ttc13	UTSW	8	124,679,057 (GRCm38)	missense	probably damaging	1.00
R2404:Ttc13	UTSW	8	124,678,997 (GRCm38)	splice site	probably benign
R2571:Ttc13	UTSW	8	124,683,799 (GRCm38)	missense	probably damaging	1.00
R3110:Ttc13	UTSW	8	124,683,834 (GRCm38)	missense	possibly damaging	0.90
R3112:Ttc13	UTSW	8	124,683,834 (GRCm38)	missense	possibly damaging	0.90
R4560:Ttc13	UTSW	8	124,675,277 (GRCm38)	missense	probably damaging	1.00
R4562:Ttc13	UTSW	8	124,675,277 (GRCm38)	missense	probably damaging	1.00
R4563:Ttc13	UTSW	8	124,675,277 (GRCm38)	missense	probably damaging	1.00
R4565:Ttc13	UTSW	8	124,682,087 (GRCm38)	missense	probably damaging	1.00
R4855:Ttc13	UTSW	8	124,674,435 (GRCm38)	missense	probably damaging	1.00
R4998:Ttc13	UTSW	8	124,680,056 (GRCm38)	missense	probably damaging	1.00
R5137:Ttc13	UTSW	8	124,694,935 (GRCm38)	nonsense	probably null
R5397:Ttc13	UTSW	8	124,675,263 (GRCm38)	missense	possibly damaging	0.94
R5619:Ttc13	UTSW	8	124,679,944 (GRCm38)	intron	probably benign
R5966:Ttc13	UTSW	8	124,682,220 (GRCm38)	intron	probably benign
R6092:Ttc13	UTSW	8	124,679,033 (GRCm38)	missense	probably benign	0.36
R6321:Ttc13	UTSW	8	124,683,191 (GRCm38)	missense	probably damaging	1.00
R6439:Ttc13	UTSW	8	124,673,482 (GRCm38)	missense	probably benign	0.02
R6737:Ttc13	UTSW	8	124,682,161 (GRCm38)	critical splice acceptor site	probably null
R6804:Ttc13	UTSW	8	124,699,687 (GRCm38)	missense	probably damaging	1.00
R6967:Ttc13	UTSW	8	124,688,618 (GRCm38)	missense	probably benign	0.17
R7542:Ttc13	UTSW	8	124,675,103 (GRCm38)	splice site	probably null
R7905:Ttc13	UTSW	8	124,688,596 (GRCm38)	missense	probably benign	0.09
R8769:Ttc13	UTSW	8	124,679,077 (GRCm38)	missense	possibly damaging	0.71
R8792:Ttc13	UTSW	8	124,674,360 (GRCm38)	critical splice donor site	probably null
R8916:Ttc13	UTSW	8	124,683,237 (GRCm38)	missense	probably damaging	0.96
R8953:Ttc13	UTSW	8	124,675,349 (GRCm38)	missense	probably damaging	1.00
R9149:Ttc13	UTSW	8	124,683,300 (GRCm38)	missense	probably benign	0.01
R9151:Ttc13	UTSW	8	124,675,282 (GRCm38)	missense	probably benign	0.03
R9221:Ttc13	UTSW	8	124,673,551 (GRCm38)	missense	probably benign	0.20
R9251:Ttc13	UTSW	8	124,675,253 (GRCm38)	missense	probably benign	0.17
R9502:Ttc13	UTSW	8	124,683,271 (GRCm38)	missense	possibly damaging	0.93
R9600:Ttc13	UTSW	8	124,688,545 (GRCm38)	missense	probably benign	0.32
X0027:Ttc13	UTSW	8	124,673,589 (GRCm38)	missense	probably benign
Z1176:Ttc13	UTSW	8	124,694,842 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCTTCAGAGAGCAGCACACGG -3'
(R):5'- TTCTAACTAAGCACGCCAGCCCTG -3'

Sequencing Primer
(F):5'- acccacctgcctgtctc -3'
(R):5'- CCCTGAGAGAGGGCAGC -3'

Posted On

2013-04-24