Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Ttc17'

222599

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94300767-94406689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94364345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 561 (H561L)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

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

AlphaFold

E9PVB5

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 benign
Transcript: ENSMUST00000094801
AA Change: H561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: H561L

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 benign
Transcript: ENSMUST00000111237
AA Change: H561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: H561L

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 benign
Transcript: ENSMUST00000111238
AA Change: H561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: H561L

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,268,167	Q433L	probably damaging	Het
4932438A13Rik	T	A	3: 36,953,985		probably null	Het
Ahnak	A	T	19: 9,015,251	D4633V	probably damaging	Het
Akap6	T	C	12: 53,140,795	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 97,967,096	M803V	probably benign	Het
BC117090	C	A	16: 36,321,832	G61C	probably damaging	Het
Ccdc73	T	A	2: 104,931,045	L130*	probably null	Het
Ccdc73	A	G	2: 104,999,159	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,757,283	S151R	possibly damaging	Het
Cep128	T	A	12: 91,230,829	H406L	probably benign	Het
Cep135	A	G	5: 76,597,428	D229G	probably benign	Het
Cpvl	T	A	6: 53,954,611	D103V	probably benign	Het
Disp3	G	A	4: 148,258,753	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,095,044	Y2433C	probably damaging	Het
Dock3	A	G	9: 107,108,421	I85T	probably benign	Het
Dock9	A	C	14: 121,591,830	S1380A	probably benign	Het
Erbin	T	C	13: 103,886,203	T43A	probably benign	Het
Fastkd3	T	C	13: 68,585,241	V502A	possibly damaging	Het
Fn1	T	C	1: 71,651,625	H59R	probably damaging	Het
Fsd2	A	G	7: 81,559,659	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,370,319	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,380,998	R116G	probably damaging	Het
Grm7	T	A	6: 110,914,511	V235E	probably damaging	Het
Hdac4	A	C	1: 91,934,645	N1002K	probably damaging	Het
Hey1	C	T	3: 8,664,897	A167T	probably benign	Het
Hrnr	A	G	3: 93,332,604	N3383S	unknown	Het
Ints2	A	T	11: 86,217,800	V907D	probably benign	Het
Ispd	T	A	12: 36,521,996	L301Q	probably damaging	Het
Jchain	T	A	5: 88,521,467	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,966,024	Y537*	probably null	Het
Klra1	C	T	6: 130,377,779	S92N	probably benign	Het
Krt31	C	T	11: 100,049,580	G150S	probably benign	Het
Lrrc71	G	A	3: 87,742,643	T326M	probably benign	Het
Lrrn4	T	C	2: 132,870,443	T487A	probably benign	Het
Map4k5	T	G	12: 69,842,912	R198S	probably damaging	Het
Men1	G	A	19: 6,338,837	C354Y	probably damaging	Het
Ms4a18	A	T	19: 11,013,655	V25E	probably damaging	Het
Mutyh	T	A	4: 116,819,368	S512R	possibly damaging	Het
Myh10	G	T	11: 68,814,496	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,610,886	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,378,056	M767T	probably benign	Het
Nrbp1	T	C	5: 31,245,391	L185P	probably damaging	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,927,287	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,576,592		probably null	Het
Plk4	A	T	3: 40,805,817	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,542,370	T1209S	probably benign	Het
Prdm2	A	G	4: 143,132,509	S1404P	possibly damaging	Het
Preb	T	C	5: 30,958,813	D150G	probably damaging	Het
Prrt2	A	G	7: 127,018,730	V59A	probably benign	Het
Prss40	T	C	1: 34,558,014	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,558,898	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,766,321	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,896,088	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 6,996,477	V87E	probably benign	Het
Rnf213	G	A	11: 119,441,107	E2381K	probably damaging	Het
Sectm1a	A	T	11: 121,069,680	I103N	probably damaging	Het
Selp	T	A	1: 164,142,758	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,300,142	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,029,559	V33A	probably benign	Het
Setd1b	A	T	5: 123,147,706	T272S	unknown	Het
Sgf29	G	C	7: 126,649,477		probably null	Het
Slc4a10	C	A	2: 62,268,204	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,273,232	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,293,835	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,757,122	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,206,872	V490A	possibly damaging	Het
Tbpl2	A	T	2: 24,094,732	F133L	probably benign	Het
Tcrg-C3	C	A	13: 19,260,994	F37L	probably damaging	Het
Tnfrsf22	T	C	7: 143,638,389		probably benign	Het
Top2b	A	G	14: 16,398,916	E512G	probably damaging	Het
Ttll4	G	T	1: 74,685,368	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 104,148,485	Y602H	probably benign	Het
Vmn1r231	T	A	17: 20,889,950	E234D	probably damaging	Het
Wbp11	A	G	6: 136,820,585	S279P	probably damaging	Het
Wdr6	A	G	9: 108,576,534	L50P	probably damaging	Het
Zfp715	A	C	7: 43,298,649	I629S	possibly damaging	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	probably benign	0.14
R1981:Ttc17	UTSW	2	94326704	missense	probably benign	0.14
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
R4870:Ttc17	UTSW	2	94366609	missense	probably damaging	1.00
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
R8737:Ttc17	UTSW	2	94376029	critical splice donor site	probably null
R8850:Ttc17	UTSW	2	94406658	missense	possibly damaging	0.55
R8886:Ttc17	UTSW	2	94375128	missense	probably benign	0.19
R8888:Ttc17	UTSW	2	94326704	missense	probably benign	0.14
R8891:Ttc17	UTSW	2	94362419	missense	probably damaging	1.00
R9336:Ttc17	UTSW	2	94358853	missense	probably benign	0.00
R9600:Ttc17	UTSW	2	94374545	missense	probably damaging	1.00
R9632:Ttc17	UTSW	2	94378752	missense	probably damaging	1.00
R9642:Ttc17	UTSW	2	94364390	missense	probably benign	0.00
R9657:Ttc17	UTSW	2	94406665	start codon destroyed	probably benign	0.02
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'- AGCTTCTCACTGAAAACCTTCCG -3'
(R):5'- AGATGGATGTGGCAGAGCTC -3'

Sequencing Primer
(F):5'- GAAAACCTTCCGTCAAGTTTCTG -3'
(R):5'- GCAGAGCTCCTGATTCTGCATG -3'

Posted On

2014-08-25