Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Ttc16'

642059

Institutional Source

Beutler Lab

Gene Symbol

Ttc16

Ensembl Gene

ENSMUSG00000039021

Gene Name

tetratricopeptide repeat domain 16

Synonyms

1200002K10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32757026-32775633 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 32774123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161958]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066352

SMART Domains

Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746

Domain	Start	End	E-Value	Type
Pfam:Pept_tRNA_hydro	22	200	6.3e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066478

SMART Domains

Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091059

SMART Domains

Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	631	644	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102813

SMART Domains

Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987

Domain	Start	End	E-Value	Type
coiled coil region	32	191	N/A	INTRINSIC
coiled coil region	301	371	N/A	INTRINSIC
low complexity region	402	416	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000125891
AA Change: I72N

Predicted Effect

probably benign
Transcript: ENSMUST00000161089

SMART Domains

Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161430

SMART Domains

Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	596	611	N/A	INTRINSIC
low complexity region	622	634	N/A	INTRINSIC
low complexity region	686	697	N/A	INTRINSIC
low complexity region	782	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161950

SMART Domains

Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161958

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,938,494	I1380L	probably benign	Het
Adcy3	T	C	12: 4,134,420	V32A	probably benign	Het
Ano3	T	A	2: 110,950,232		probably benign	Het
Arhgef12	G	A	9: 42,971,103	R1482*	probably null	Het
Cd300lg	T	G	11: 102,041,601	L4R	probably damaging	Het
Cfap57	T	A	4: 118,569,625	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,462,483	M132I	probably benign	Het
Clec18a	T	G	8: 111,071,598	D489A	probably damaging	Het
Cngb1	A	G	8: 95,252,173	S551P		Het
Efna4	G	A	3: 89,335,326	T87M	probably benign	Het
Fam229b	T	C	10: 39,120,259	R42G	probably null	Het
Gm17175	C	T	14: 51,571,623	M95I	probably damaging	Het
Grk4	A	G	5: 34,676,138	E96G	probably benign	Het
Helb	A	C	10: 120,089,416	F1019V	probably benign	Het
Hsd17b2	T	C	8: 117,758,701	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,631,529	F342L	probably benign	Het
Idua	C	A	5: 108,680,575	A265E	possibly damaging	Het
Jup	T	G	11: 100,386,287	T32P	probably damaging	Het
Kidins220	A	G	12: 25,057,716	K1632E	probably benign	Het
Lef1	G	A	3: 131,204,305		probably null	Het
Lypla2	A	G	4: 135,969,801		probably null	Het
Mall	A	G	2: 127,729,865	M1T	probably null	Het
Mettl25	G	T	10: 105,826,080	A343E	probably benign	Het
Mpdz	T	C	4: 81,349,087	N940S	probably benign	Het
Nsun4	A	T	4: 116,051,434	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,624,937	F70Y	possibly damaging	Het
Olfr1047	C	G	2: 86,228,129	V281L	possibly damaging	Het
Olfr202	A	G	16: 59,284,186	F104L	probably benign	Het
Olfr23	T	A	11: 73,940,387	V47D	possibly damaging	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Olfr671	A	T	7: 104,975,727	I90N	probably damaging	Het
Olfr951	A	T	9: 39,393,946	I49F	probably damaging	Het
Pabpc4	A	T	4: 123,286,715	M77L	probably benign	Het
Phactr3	A	G	2: 178,302,796	E429G	probably damaging	Het
Polr3b	A	G	10: 84,713,659	D915G	probably damaging	Het
Pramef17	A	T	4: 143,991,854	F340I	probably benign	Het
Prkcg	T	A	7: 3,323,521	M501K	probably damaging	Het
Prkch	G	A	12: 73,700,267	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,927,661	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,557,436	D373E	probably damaging	Het
Scfd2	G	T	5: 74,519,596	Q299K	probably benign	Het
Sept2	A	G	1: 93,505,561	D315G	probably benign	Het
Sf3a1	T	A	11: 4,175,435	Y408*	probably null	Het
Siglecf	A	T	7: 43,351,790	N61Y	possibly damaging	Het
Sis	A	T	3: 72,917,198	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,344,884	T307S	possibly damaging	Het
Spag9	T	A	11: 94,112,051	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,675,011	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,622,016	K12T	probably damaging	Het
Stam2	A	T	2: 52,706,426	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,138,979		probably null	Het
Tmem121b	T	C	6: 120,492,908	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,992,952	E473G	probably damaging	Het
Tnxb	T	A	17: 34,703,981	S2513T	probably benign	Het
Ttll8	C	T	15: 88,915,375	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,440,540	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,335,945	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,547,643		probably benign	Het
Vwa3a	A	T	7: 120,799,098	I941L	probably benign	Het
Zbtb24	A	G	10: 41,451,232	D38G	probably damaging	Het
Zfp628	T	C	7: 4,920,206	C476R	probably damaging	Het
Zfp831	A	C	2: 174,644,735	N401T	possibly damaging	Het

Other mutations in Ttc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ttc16	APN	2	32770247	missense	probably damaging	1.00
IGL02931:Ttc16	APN	2	32771927	missense	probably damaging	1.00
IGL03143:Ttc16	APN	2	32774445	missense	possibly damaging	0.86
IGL03206:Ttc16	APN	2	32771885	splice site	probably null
IGL03310:Ttc16	APN	2	32762397	unclassified	probably benign
P0033:Ttc16	UTSW	2	32762574	missense	probably benign	0.00
R0909:Ttc16	UTSW	2	32762868	missense	probably benign	0.08
R1085:Ttc16	UTSW	2	32775080	missense	possibly damaging	0.83
R1659:Ttc16	UTSW	2	32762535	missense	probably benign	0.15
R1752:Ttc16	UTSW	2	32772150	missense	probably damaging	0.96
R2408:Ttc16	UTSW	2	32768008	missense	probably benign	0.00
R3835:Ttc16	UTSW	2	32769310	missense	probably damaging	0.99
R4576:Ttc16	UTSW	2	32770059	missense	probably benign	0.02
R4590:Ttc16	UTSW	2	32773741	missense	probably damaging	1.00
R4630:Ttc16	UTSW	2	32775377	start gained	probably benign
R5081:Ttc16	UTSW	2	32767976	missense	probably damaging	1.00
R5128:Ttc16	UTSW	2	32762997	missense	probably benign	0.31
R5642:Ttc16	UTSW	2	32775336	missense	probably damaging	0.99
R5704:Ttc16	UTSW	2	32769125	missense	probably damaging	1.00
R6384:Ttc16	UTSW	2	32767549	missense	probably damaging	1.00
R6723:Ttc16	UTSW	2	32768037	missense	possibly damaging	0.66
R7103:Ttc16	UTSW	2	32774428	missense	probably benign	0.00
R7295:Ttc16	UTSW	2	32774425	missense	probably null	0.02
R7570:Ttc16	UTSW	2	32768968	missense	probably damaging	1.00
R7982:Ttc16	UTSW	2	32775035	intron	probably benign
R9006:Ttc16	UTSW	2	32762973	missense	probably benign	0.33
R9131:Ttc16	UTSW	2	32769220	missense	probably damaging	1.00
R9183:Ttc16	UTSW	2	32757317	missense	probably benign	0.08
R9264:Ttc16	UTSW	2	32763005	missense	possibly damaging	0.87
R9322:Ttc16	UTSW	2	32774940	intron	probably benign
R9390:Ttc16	UTSW	2	32767183	missense	possibly damaging	0.78
R9789:Ttc16	UTSW	2	32774793	critical splice donor site	probably null
Z1088:Ttc16	UTSW	2	32769333	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGCAGGTTTGACAGTGACAG -3'
(R):5'- TCTGGGTCTCAGTGAACAGC -3'

Sequencing Primer
(F):5'- GACTTATGCCCAGCCAGTTG -3'
(R):5'- TCTCAGTGAACAGCGAGGG -3'

Posted On

2020-07-30