Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01120:Ttc17'

50564

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: 0.556) question?

Stock #

IGL01120

Quality Score

Status

Chromosome

Chromosomal Location

94131112-94237034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94202141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 387 (E387G)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

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

AlphaFold

E9PVB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094801
AA Change: E387G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: E387G

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: E387G

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

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: E387G

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: E387G

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

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: E387G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,329 (GRCm39)		probably null	Het
Armcx5	T	C	X: 134,647,112 (GRCm39)	I396T	probably damaging	Het
Atm	T	C	9: 53,372,422 (GRCm39)		probably null	Het
Atp6v1c2	C	T	12: 17,358,294 (GRCm39)	E88K	probably damaging	Het
Caskin1	A	G	17: 24,724,343 (GRCm39)	T1044A	possibly damaging	Het
Cyp3a59	T	A	5: 146,039,671 (GRCm39)	S315T	probably damaging	Het
Dnaja1	T	A	4: 40,730,248 (GRCm39)	I240N	probably damaging	Het
Dnttip2	C	T	3: 122,072,386 (GRCm39)		probably benign	Het
Elavl2	A	T	4: 91,152,309 (GRCm39)	M136K	probably damaging	Het
Eml5	C	T	12: 98,810,278 (GRCm39)	V893I	probably benign	Het
Fbxw4	G	T	19: 45,628,955 (GRCm39)	A2E	probably benign	Het
Flg2	T	G	3: 93,108,475 (GRCm39)	S168A	probably damaging	Het
Fndc3a	G	A	14: 72,794,102 (GRCm39)	T857I	probably benign	Het
Gria1	A	G	11: 57,208,495 (GRCm39)	K797E	probably damaging	Het
Herc1	T	C	9: 66,336,162 (GRCm39)	F1569S	probably benign	Het
Kash5	G	T	7: 44,833,622 (GRCm39)	S560Y	probably damaging	Het
Lrrc45	T	C	11: 120,610,836 (GRCm39)	V524A	probably benign	Het
Myo19	T	C	11: 84,798,104 (GRCm39)	L708P	probably damaging	Het
Nup107	A	G	10: 117,606,146 (GRCm39)		probably benign	Het
Or10ab4	T	G	7: 107,654,774 (GRCm39)	M195R	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Palm	A	G	10: 79,652,621 (GRCm39)		probably benign	Het
Phf14	T	C	6: 11,962,739 (GRCm39)	V462A	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,708 (GRCm39)		probably null	Het
Pkp3	T	A	7: 140,664,095 (GRCm39)	L424*	probably null	Het
Prss29	A	G	17: 25,541,107 (GRCm39)	K184E	probably benign	Het
Prss3b	A	T	6: 41,008,607 (GRCm39)	Y236N	probably damaging	Het
Ptcd1	C	T	5: 145,089,053 (GRCm39)		probably benign	Het
Pth1r	T	C	9: 110,556,198 (GRCm39)	H225R	probably damaging	Het
Rffl	C	T	11: 82,696,848 (GRCm39)	V332I	probably damaging	Het
Rsl1	T	C	13: 67,325,230 (GRCm39)		probably benign	Het
Scart2	T	C	7: 139,876,472 (GRCm39)	L648P	probably benign	Het
Scn9a	T	C	2: 66,357,316 (GRCm39)	K986R	probably benign	Het
Slc22a15	A	G	3: 101,804,482 (GRCm39)	L181P	probably damaging	Het
Slc34a1	T	A	13: 55,556,884 (GRCm39)	L241H	probably damaging	Het
Slc4a4	C	A	5: 89,280,238 (GRCm39)	H354Q	probably damaging	Het
Sorcs2	T	C	5: 36,178,596 (GRCm39)	E1131G	probably damaging	Het
Ssc4d	C	A	5: 135,996,817 (GRCm39)	D95Y	probably damaging	Het
Tcte1	A	T	17: 45,850,594 (GRCm39)	D290V	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tlr4	C	T	4: 66,758,662 (GRCm39)	T485I	probably benign	Het
Trem1	A	G	17: 48,544,277 (GRCm39)	T101A	probably benign	Het
Vmn2r103	A	T	17: 20,013,259 (GRCm39)	T127S	probably benign	Het

Other mutations in Ttc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ttc17	APN	2	94,153,428 (GRCm39)	splice site	probably benign
IGL00870:Ttc17	APN	2	94,202,078 (GRCm39)	splice site	probably null
IGL01845:Ttc17	APN	2	94,163,177 (GRCm39)	nonsense	probably null
IGL01895:Ttc17	APN	2	94,205,491 (GRCm39)	missense	possibly damaging	0.80
IGL02064:Ttc17	APN	2	94,161,012 (GRCm39)	missense	probably damaging	1.00
IGL02296:Ttc17	APN	2	94,208,055 (GRCm39)	missense	probably damaging	1.00
IGL02309:Ttc17	APN	2	94,173,006 (GRCm39)	missense	probably benign
IGL02456:Ttc17	APN	2	94,193,130 (GRCm39)	splice site	probably benign
IGL02475:Ttc17	APN	2	94,194,721 (GRCm39)	missense	probably damaging	1.00
IGL03341:Ttc17	APN	2	94,205,566 (GRCm39)	missense	probably damaging	1.00
IGL03371:Ttc17	APN	2	94,216,450 (GRCm39)	missense	probably damaging	1.00
R0389:Ttc17	UTSW	2	94,208,439 (GRCm39)	missense	probably benign	0.03
R0443:Ttc17	UTSW	2	94,208,439 (GRCm39)	missense	probably benign	0.03
R0511:Ttc17	UTSW	2	94,153,465 (GRCm39)	missense	possibly damaging	0.87
R0763:Ttc17	UTSW	2	94,163,148 (GRCm39)	missense	probably benign	0.08
R1980:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R1981:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R1987:Ttc17	UTSW	2	94,194,690 (GRCm39)	missense	probably benign
R2064:Ttc17	UTSW	2	94,196,892 (GRCm39)	missense	probably damaging	1.00
R2147:Ttc17	UTSW	2	94,132,139 (GRCm39)	missense	possibly damaging	0.87
R2155:Ttc17	UTSW	2	94,196,987 (GRCm39)	missense	possibly damaging	0.88
R2844:Ttc17	UTSW	2	94,206,419 (GRCm39)	nonsense	probably null
R3719:Ttc17	UTSW	2	94,194,672 (GRCm39)	missense	probably benign	0.27
R3852:Ttc17	UTSW	2	94,199,758 (GRCm39)	missense	possibly damaging	0.86
R3947:Ttc17	UTSW	2	94,206,491 (GRCm39)	splice site	probably benign
R4411:Ttc17	UTSW	2	94,173,098 (GRCm39)	missense	probably damaging	0.97
R4461:Ttc17	UTSW	2	94,196,916 (GRCm39)	missense	probably benign	0.02
R4660:Ttc17	UTSW	2	94,194,774 (GRCm39)	missense	possibly damaging	0.51
R4762:Ttc17	UTSW	2	94,202,113 (GRCm39)	missense	probably damaging	1.00
R4818:Ttc17	UTSW	2	94,163,236 (GRCm39)	missense	possibly damaging	0.91
R4819:Ttc17	UTSW	2	94,194,955 (GRCm39)	missense	probably damaging	1.00
R4864:Ttc17	UTSW	2	94,196,980 (GRCm39)	missense	probably benign	0.01
R4870:Ttc17	UTSW	2	94,196,954 (GRCm39)	missense	probably damaging	1.00
R5203:Ttc17	UTSW	2	94,209,061 (GRCm39)	missense	probably damaging	1.00
R5288:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5385:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5386:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5453:Ttc17	UTSW	2	94,133,905 (GRCm39)	missense	probably damaging	1.00
R5583:Ttc17	UTSW	2	94,208,027 (GRCm39)	missense	probably damaging	1.00
R5683:Ttc17	UTSW	2	94,192,866 (GRCm39)	missense	probably damaging	1.00
R5921:Ttc17	UTSW	2	94,209,193 (GRCm39)	missense	probably damaging	1.00
R6272:Ttc17	UTSW	2	94,189,100 (GRCm39)	missense	probably damaging	1.00
R6444:Ttc17	UTSW	2	94,133,891 (GRCm39)	missense	possibly damaging	0.57
R6748:Ttc17	UTSW	2	94,216,447 (GRCm39)	missense	probably benign	0.02
R7204:Ttc17	UTSW	2	94,192,773 (GRCm39)	missense	possibly damaging	0.95
R7300:Ttc17	UTSW	2	94,205,479 (GRCm39)	missense	probably damaging	1.00
R7446:Ttc17	UTSW	2	94,205,495 (GRCm39)	missense	probably damaging	0.97
R7680:Ttc17	UTSW	2	94,196,889 (GRCm39)	missense	probably benign	0.06
R7912:Ttc17	UTSW	2	94,209,166 (GRCm39)	missense	probably damaging	1.00
R8083:Ttc17	UTSW	2	94,204,909 (GRCm39)	missense	probably damaging	1.00
R8304:Ttc17	UTSW	2	94,199,526 (GRCm39)	intron	probably benign
R8381:Ttc17	UTSW	2	94,132,166 (GRCm39)	missense	probably damaging	1.00
R8512:Ttc17	UTSW	2	94,202,108 (GRCm39)	missense	probably damaging	1.00
R8737:Ttc17	UTSW	2	94,206,374 (GRCm39)	critical splice donor site	probably null
R8850:Ttc17	UTSW	2	94,237,003 (GRCm39)	missense	possibly damaging	0.55
R8886:Ttc17	UTSW	2	94,205,473 (GRCm39)	missense	probably benign	0.19
R8888:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R8891:Ttc17	UTSW	2	94,192,764 (GRCm39)	missense	probably damaging	1.00
R9336:Ttc17	UTSW	2	94,189,198 (GRCm39)	missense	probably benign	0.00
R9600:Ttc17	UTSW	2	94,204,890 (GRCm39)	missense	probably damaging	1.00
R9632:Ttc17	UTSW	2	94,209,097 (GRCm39)	missense	probably damaging	1.00
R9642:Ttc17	UTSW	2	94,194,735 (GRCm39)	missense	probably benign	0.00
R9657:Ttc17	UTSW	2	94,237,010 (GRCm39)	start codon destroyed	probably benign	0.02
X0013:Ttc17	UTSW	2	94,161,015 (GRCm39)	missense	probably damaging	1.00
X0018:Ttc17	UTSW	2	94,209,061 (GRCm39)	missense	probably damaging	1.00
X0025:Ttc17	UTSW	2	94,154,861 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-06-21