Mutagenetix > Incidental Mutations

Incidental Mutation 'R4870:Ttc17'

376476

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

042480-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94300767-94406689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94366609 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 464 (N464K)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055081] [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]

Predicted Effect

probably benign
Transcript: ENSMUST00000055081

SMART Domains

Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194

Domain	Start	End	E-Value	Type
TPR	46	79	1.33e1	SMART
Blast:TPR	82	115	3e-10	BLAST
TPR	116	149	4.91e-4	SMART
low complexity region	326	344	N/A	INTRINSIC
TPR	499	532	2.43e1	SMART
TPR	535	568	6.75e1	SMART
TPR	569	602	6.84e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094801
AA Change: N464K

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

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: N464K

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
internal_repeat_1	113	271	7.26e-16	PROSPERO
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
coiled coil region	340	382	N/A	INTRINSIC
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	3e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	899	917	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111237
AA Change: N464K

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

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N464K

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Blast:TPR	225	258	8e-11	BLAST
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	4e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	842	860	N/A	INTRINSIC
TPR	1015	1048	2.43e1	SMART
TPR	1051	1084	6.75e1	SMART
TPR	1085	1118	6.84e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111238
AA Change: N464K

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

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N464K

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
internal_repeat_2	113	271	8.31e-15	PROSPERO
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
coiled coil region	340	382	N/A	INTRINSIC
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	4e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	899	917	N/A	INTRINSIC
TPR	1072	1105	2.43e1	SMART
TPR	1108	1141	6.75e1	SMART
TPR	1142	1175	6.84e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150215

Meta Mutation Damage Score

0.1551

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	C	A	7: 34,284,887	V104L	possibly damaging	Het
Abcb11	A	T	2: 69,239,196	I1285N	probably damaging	Het
Abcc8	G	A	7: 46,107,259	R721*	probably null	Het
Alox8	T	C	11: 69,186,568	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,251,478		probably null	Het
Cdc14a	A	G	3: 116,423,460	I9T	probably benign	Het
Ceacam18	T	C	7: 43,641,904	C257R	probably damaging	Het
Cilp	T	C	9: 65,279,698	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,153,565		probably benign	Het
Csnk1d	A	T	11: 120,983,188		probably benign	Het
Cyp11b2	A	G	15: 74,853,146	S285P	probably benign	Het
Dip2b	T	A	15: 100,195,784		probably null	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dnajc14	T	C	10: 128,817,350	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,670,364	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,495,192	C772S	unknown	Het
F2rl1	A	T	13: 95,513,984	F130Y	probably damaging	Het
Galk2	C	G	2: 125,929,637	S194*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbp1l1	A	G	4: 116,573,517	T62A	probably benign	Het
H2-Q10	A	T	17: 35,470,460	D53V	probably damaging	Het
H2-T22	T	C	17: 36,039,032	K356R	probably benign	Het
Insrr	G	A	3: 87,811,604	V956M	probably damaging	Het
Ints7	A	G	1: 191,596,331	T239A	probably damaging	Het
Isl1	A	G	13: 116,308,270		probably benign	Het
Kcng2	A	G	18: 80,322,868	C90R	probably benign	Het
Kif3c	C	T	12: 3,401,735	P171S	probably damaging	Het
Knl1	A	G	2: 119,081,513	T1704A	probably benign	Het
Lats1	A	G	10: 7,705,785	Y778C	probably damaging	Het
Limd2	T	C	11: 106,159,389	M1V	probably null	Het
Mcm10	A	T	2: 5,004,159	I333N	probably damaging	Het
Mipep	T	A	14: 60,802,880	L283*	probably null	Het
Mixl1	A	G	1: 180,694,672	S215P	probably benign	Het
Mmp21	A	G	7: 133,678,677	L188P	probably damaging	Het
Mob1a	T	C	6: 83,340,239	S213P	probably benign	Het
Ndufaf6	T	C	4: 11,060,917	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Obscn	A	T	11: 59,136,206	L57Q	probably damaging	Het
Olfr1161	T	C	2: 88,025,460	L246P	probably damaging	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pirb	T	A	7: 3,712,662	M839L	probably benign	Het
Plcl2	A	G	17: 50,607,226	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,949,033	N99S	probably benign	Het
Ptpro	A	G	6: 137,377,132	K169E	probably damaging	Het
Rita1	T	A	5: 120,611,383	K88N	probably damaging	Het
Rptn	A	T	3: 93,396,469	K370*	probably null	Het
Simc1	A	G	13: 54,539,763	D115G	probably null	Het
Stab1	T	A	14: 31,142,043	N136I	probably benign	Het
Syt4	T	A	18: 31,447,356		probably benign	Het
Sytl2	A	T	7: 90,388,898	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,729,493		probably benign	Het
Tenm2	A	T	11: 36,078,569	D847E	probably damaging	Het
Th	G	T	7: 142,894,097	D321E	probably benign	Het
Tmem44	A	T	16: 30,540,773	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,256,641	L178P	probably damaging	Het
Trp63	A	G	16: 25,866,218	*285W	probably null	Het
Tsen34	T	C	7: 3,694,381		probably benign	Het
Tssk4	C	T	14: 55,651,815	T256I	probably benign	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ubn1	A	G	16: 5,077,313	E741G	probably damaging	Het
Urad	T	A	5: 147,315,454	I63F	probably damaging	Het
Vcan	T	C	13: 89,704,739	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,837,215	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,411,585	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Znfx1	A	C	2: 167,055,269	F578L	probably benign	Het

Other mutations in Ttc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ttc17	APN	2	94323083	splice site	probably benign
IGL00870:Ttc17	APN	2	94371733	splice site	probably null
IGL01120:Ttc17	APN	2	94371796	missense	probably damaging	1.00
IGL01845:Ttc17	APN	2	94332832	nonsense	probably null
IGL01895:Ttc17	APN	2	94375146	missense	possibly damaging	0.80
IGL02064:Ttc17	APN	2	94330667	missense	probably damaging	1.00
IGL02296:Ttc17	APN	2	94377710	missense	probably damaging	1.00
IGL02309:Ttc17	APN	2	94342661	missense	probably benign
IGL02456:Ttc17	APN	2	94362785	splice site	probably benign
IGL02475:Ttc17	APN	2	94364376	missense	probably damaging	1.00
IGL03341:Ttc17	APN	2	94375221	missense	probably damaging	1.00
IGL03371:Ttc17	APN	2	94386105	missense	probably damaging	1.00
R0389:Ttc17	UTSW	2	94378094	missense	probably benign	0.03
R0443:Ttc17	UTSW	2	94378094	missense	probably benign	0.03
R0511:Ttc17	UTSW	2	94323120	missense	possibly damaging	0.87
R0763:Ttc17	UTSW	2	94332803	missense	probably benign	0.08
R1980:Ttc17	UTSW	2	94326704	missense	possibly damaging	0.82
R1981:Ttc17	UTSW	2	94326704	missense	possibly damaging	0.82
R1987:Ttc17	UTSW	2	94364345	missense	probably benign
R2064:Ttc17	UTSW	2	94366547	missense	probably damaging	1.00
R2147:Ttc17	UTSW	2	94301794	missense	possibly damaging	0.87
R2155:Ttc17	UTSW	2	94366642	missense	possibly damaging	0.88
R2844:Ttc17	UTSW	2	94376074	nonsense	probably null
R3719:Ttc17	UTSW	2	94364327	missense	probably benign	0.27
R3852:Ttc17	UTSW	2	94369413	missense	possibly damaging	0.86
R3947:Ttc17	UTSW	2	94376146	splice site	probably benign
R4411:Ttc17	UTSW	2	94342753	missense	probably damaging	0.97
R4461:Ttc17	UTSW	2	94366571	missense	probably benign	0.02
R4660:Ttc17	UTSW	2	94364429	missense	possibly damaging	0.51
R4762:Ttc17	UTSW	2	94371768	missense	probably damaging	1.00
R4818:Ttc17	UTSW	2	94332891	missense	possibly damaging	0.91
R4819:Ttc17	UTSW	2	94364610	missense	probably damaging	1.00
R4864:Ttc17	UTSW	2	94366635	missense	probably benign	0.01
R5203:Ttc17	UTSW	2	94378716	missense	probably damaging	1.00
R5288:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5385:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5386:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5453:Ttc17	UTSW	2	94303560	missense	probably damaging	1.00
R5583:Ttc17	UTSW	2	94377682	missense	probably damaging	1.00
R5683:Ttc17	UTSW	2	94362521	missense	probably damaging	1.00
R5921:Ttc17	UTSW	2	94378848	missense	probably damaging	1.00
R6272:Ttc17	UTSW	2	94358755	missense	probably damaging	1.00
R6444:Ttc17	UTSW	2	94303546	missense	possibly damaging	0.57
R6748:Ttc17	UTSW	2	94386102	missense	probably benign	0.02
R7204:Ttc17	UTSW	2	94362428	missense	possibly damaging	0.95
R7300:Ttc17	UTSW	2	94375134	missense	probably damaging	1.00
R7446:Ttc17	UTSW	2	94375150	missense	probably damaging	0.97
R7680:Ttc17	UTSW	2	94366544	missense	probably benign	0.06
R7912:Ttc17	UTSW	2	94378821	missense	probably damaging	1.00
R8083:Ttc17	UTSW	2	94374564	missense	probably damaging	1.00
R8304:Ttc17	UTSW	2	94369181	intron	probably benign
R8381:Ttc17	UTSW	2	94301821	missense	probably damaging	1.00
R8512:Ttc17	UTSW	2	94371763	missense	probably damaging	1.00
X0013:Ttc17	UTSW	2	94330670	missense	probably damaging	1.00
X0018:Ttc17	UTSW	2	94378716	missense	probably damaging	1.00
X0025:Ttc17	UTSW	2	94324516	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTAATCAGTGCAGTGCAGGG -3'
(R):5'- TTAACTACACTGCATATCCACAGG -3'

Sequencing Primer
(F):5'- AGGGCCACTGCTGTATTAGAC -3'
(R):5'- AAATGATCCTATTGCTTCTGACCTG -3'

Posted On

2016-03-17