Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03341:Ttc17'

417232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

IGL03341

Quality Score

Status

Chromosome

Chromosomal Location

94300767-94406689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94375221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 260 (N260I)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

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

AlphaFold

E9PVB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094801
AA Change: N260I

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: N260I

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: N260I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N260I

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: N260I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N260I

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: ENSMUST00000150266

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	T	2: 35,375,894 (GRCm38)	V255I	possibly damaging	Het
Acvrl1	T	A	15: 101,137,596 (GRCm38)	N334K	probably damaging	Het
Arhgef5	T	A	6: 43,280,651 (GRCm38)	I1284N	probably damaging	Het
Asns	C	A	6: 7,682,002 (GRCm38)	R236L	probably damaging	Het
Barx2	T	C	9: 31,858,794 (GRCm38)	E146G	probably damaging	Het
Ccl7	A	G	11: 82,045,835 (GRCm38)	S18G	probably benign	Het
Cilp	A	T	9: 65,278,002 (GRCm38)	T460S	probably benign	Het
Cpa5	A	G	6: 30,626,291 (GRCm38)	Y217C	possibly damaging	Het
Dgkh	T	A	14: 78,595,491 (GRCm38)		probably benign	Het
Dmc1	T	C	15: 79,562,545 (GRCm38)	T276A	probably benign	Het
Fryl	G	A	5: 73,076,695 (GRCm38)	P1496S	probably benign	Het
Gstm2	T	C	3: 107,984,205 (GRCm38)	Y93C	possibly damaging	Het
Hc	A	T	2: 35,003,377 (GRCm38)	I1274N	probably damaging	Het
Htra1	A	G	7: 130,981,714 (GRCm38)	I355V	probably benign	Het
Ifi214	G	T	1: 173,526,516 (GRCm38)	T196K	possibly damaging	Het
Ms4a5	T	C	19: 11,279,378 (GRCm38)	T52A	probably benign	Het
Mtx3	T	C	13: 92,847,883 (GRCm38)	F191L	probably damaging	Het
Padi2	A	G	4: 140,927,113 (GRCm38)	M192V	probably benign	Het
Pdcl3	C	A	1: 38,995,895 (GRCm38)	Q178K	probably benign	Het
Rap1gap2	G	A	11: 74,435,714 (GRCm38)	R176W	probably damaging	Het
Ska2	A	G	11: 87,116,164 (GRCm38)	T32A	probably benign	Het
Slc6a18	G	T	13: 73,677,923 (GRCm38)	Q3K	probably benign	Het
Slc7a14	T	C	3: 31,238,770 (GRCm38)	Y122C	probably damaging	Het
Svep1	T	A	4: 58,070,308 (GRCm38)	K2493*	probably null	Het
Trpm6	T	A	19: 18,813,486 (GRCm38)	N628K	probably benign	Het
Ttc7b	T	C	12: 100,325,735 (GRCm38)	I193V	possibly damaging	Het
Ttn	T	A	2: 76,712,239 (GRCm38)	T25141S	possibly damaging	Het
Zfhx4	A	C	3: 5,411,850 (GRCm38)	Q3150P	probably damaging	Het

Other mutations in Ttc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ttc17	APN	2	94,323,083 (GRCm38)	splice site	probably benign
IGL00870:Ttc17	APN	2	94,371,733 (GRCm38)	splice site	probably null
IGL01120:Ttc17	APN	2	94,371,796 (GRCm38)	missense	probably damaging	1.00
IGL01845:Ttc17	APN	2	94,332,832 (GRCm38)	nonsense	probably null
IGL01895:Ttc17	APN	2	94,375,146 (GRCm38)	missense	possibly damaging	0.80
IGL02064:Ttc17	APN	2	94,330,667 (GRCm38)	missense	probably damaging	1.00
IGL02296:Ttc17	APN	2	94,377,710 (GRCm38)	missense	probably damaging	1.00
IGL02309:Ttc17	APN	2	94,342,661 (GRCm38)	missense	probably benign
IGL02456:Ttc17	APN	2	94,362,785 (GRCm38)	splice site	probably benign
IGL02475:Ttc17	APN	2	94,364,376 (GRCm38)	missense	probably damaging	1.00
IGL03371:Ttc17	APN	2	94,386,105 (GRCm38)	missense	probably damaging	1.00
R0389:Ttc17	UTSW	2	94,378,094 (GRCm38)	missense	probably benign	0.03
R0443:Ttc17	UTSW	2	94,378,094 (GRCm38)	missense	probably benign	0.03
R0511:Ttc17	UTSW	2	94,323,120 (GRCm38)	missense	possibly damaging	0.87
R0763:Ttc17	UTSW	2	94,332,803 (GRCm38)	missense	probably benign	0.08
R1980:Ttc17	UTSW	2	94,326,704 (GRCm38)	missense	probably benign	0.14
R1981:Ttc17	UTSW	2	94,326,704 (GRCm38)	missense	probably benign	0.14
R1987:Ttc17	UTSW	2	94,364,345 (GRCm38)	missense	probably benign
R2064:Ttc17	UTSW	2	94,366,547 (GRCm38)	missense	probably damaging	1.00
R2147:Ttc17	UTSW	2	94,301,794 (GRCm38)	missense	possibly damaging	0.87
R2155:Ttc17	UTSW	2	94,366,642 (GRCm38)	missense	possibly damaging	0.88
R2844:Ttc17	UTSW	2	94,376,074 (GRCm38)	nonsense	probably null
R3719:Ttc17	UTSW	2	94,364,327 (GRCm38)	missense	probably benign	0.27
R3852:Ttc17	UTSW	2	94,369,413 (GRCm38)	missense	possibly damaging	0.86
R3947:Ttc17	UTSW	2	94,376,146 (GRCm38)	splice site	probably benign
R4411:Ttc17	UTSW	2	94,342,753 (GRCm38)	missense	probably damaging	0.97
R4461:Ttc17	UTSW	2	94,366,571 (GRCm38)	missense	probably benign	0.02
R4660:Ttc17	UTSW	2	94,364,429 (GRCm38)	missense	possibly damaging	0.51
R4762:Ttc17	UTSW	2	94,371,768 (GRCm38)	missense	probably damaging	1.00
R4818:Ttc17	UTSW	2	94,332,891 (GRCm38)	missense	possibly damaging	0.91
R4819:Ttc17	UTSW	2	94,364,610 (GRCm38)	missense	probably damaging	1.00
R4864:Ttc17	UTSW	2	94,366,635 (GRCm38)	missense	probably benign	0.01
R4870:Ttc17	UTSW	2	94,366,609 (GRCm38)	missense	probably damaging	1.00
R5203:Ttc17	UTSW	2	94,378,716 (GRCm38)	missense	probably damaging	1.00
R5288:Ttc17	UTSW	2	94,303,640 (GRCm38)	missense	probably damaging	1.00
R5385:Ttc17	UTSW	2	94,303,640 (GRCm38)	missense	probably damaging	1.00
R5386:Ttc17	UTSW	2	94,303,640 (GRCm38)	missense	probably damaging	1.00
R5453:Ttc17	UTSW	2	94,303,560 (GRCm38)	missense	probably damaging	1.00
R5583:Ttc17	UTSW	2	94,377,682 (GRCm38)	missense	probably damaging	1.00
R5683:Ttc17	UTSW	2	94,362,521 (GRCm38)	missense	probably damaging	1.00
R5921:Ttc17	UTSW	2	94,378,848 (GRCm38)	missense	probably damaging	1.00
R6272:Ttc17	UTSW	2	94,358,755 (GRCm38)	missense	probably damaging	1.00
R6444:Ttc17	UTSW	2	94,303,546 (GRCm38)	missense	possibly damaging	0.57
R6748:Ttc17	UTSW	2	94,386,102 (GRCm38)	missense	probably benign	0.02
R7204:Ttc17	UTSW	2	94,362,428 (GRCm38)	missense	possibly damaging	0.95
R7300:Ttc17	UTSW	2	94,375,134 (GRCm38)	missense	probably damaging	1.00
R7446:Ttc17	UTSW	2	94,375,150 (GRCm38)	missense	probably damaging	0.97
R7680:Ttc17	UTSW	2	94,366,544 (GRCm38)	missense	probably benign	0.06
R7912:Ttc17	UTSW	2	94,378,821 (GRCm38)	missense	probably damaging	1.00
R8083:Ttc17	UTSW	2	94,374,564 (GRCm38)	missense	probably damaging	1.00
R8304:Ttc17	UTSW	2	94,369,181 (GRCm38)	intron	probably benign
R8381:Ttc17	UTSW	2	94,301,821 (GRCm38)	missense	probably damaging	1.00
R8512:Ttc17	UTSW	2	94,371,763 (GRCm38)	missense	probably damaging	1.00
R8737:Ttc17	UTSW	2	94,376,029 (GRCm38)	critical splice donor site	probably null
R8850:Ttc17	UTSW	2	94,406,658 (GRCm38)	missense	possibly damaging	0.55
R8886:Ttc17	UTSW	2	94,375,128 (GRCm38)	missense	probably benign	0.19
R8888:Ttc17	UTSW	2	94,326,704 (GRCm38)	missense	probably benign	0.14
R8891:Ttc17	UTSW	2	94,362,419 (GRCm38)	missense	probably damaging	1.00
R9336:Ttc17	UTSW	2	94,358,853 (GRCm38)	missense	probably benign	0.00
R9600:Ttc17	UTSW	2	94,374,545 (GRCm38)	missense	probably damaging	1.00
R9632:Ttc17	UTSW	2	94,378,752 (GRCm38)	missense	probably damaging	1.00
R9642:Ttc17	UTSW	2	94,364,390 (GRCm38)	missense	probably benign	0.00
R9657:Ttc17	UTSW	2	94,406,665 (GRCm38)	start codon destroyed	probably benign	0.02
X0013:Ttc17	UTSW	2	94,330,670 (GRCm38)	missense	probably damaging	1.00
X0018:Ttc17	UTSW	2	94,378,716 (GRCm38)	missense	probably damaging	1.00
X0025:Ttc17	UTSW	2	94,324,516 (GRCm38)	missense	possibly damaging	0.86

Posted On

2016-08-02