Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Ttc27'

5746

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc27

Ensembl Gene

ENSMUSG00000024078

Gene Name

tetratricopeptide repeat domain 27

Synonyms

2610511O17Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

74717750-74863570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74780816 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 459 (C459S)

Ref Sequence

ENSEMBL: ENSMUSP00000024882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024882]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024882
AA Change: C459S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: C459S

Domain	Start	End	E-Value	Type
TPR	531	564	7.34e-3	SMART
TPR	565	598	5.56e-3	SMART
TPR	599	632	3.81e-1	SMART
Blast:TPR	633	666	7e-15	BLAST
coiled coil region	817	847	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Ttc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Ttc27	APN	17	74835357	missense	probably damaging	0.98
IGL02010:Ttc27	APN	17	74780911	splice site	probably benign
IGL02189:Ttc27	APN	17	74729899	missense	probably damaging	0.99
IGL02487:Ttc27	APN	17	74856554	missense	probably damaging	1.00
IGL02745:Ttc27	APN	17	74739733	missense	probably benign	0.37
IGL02816:Ttc27	APN	17	74747774	splice site	probably benign
IGL03389:Ttc27	APN	17	74858033	missense	probably benign	0.00
R0024:Ttc27	UTSW	17	74770264	missense	possibly damaging	0.79
R0511:Ttc27	UTSW	17	74718715	missense	probably benign	0.22
R0518:Ttc27	UTSW	17	74856549	missense	possibly damaging	0.80
R0521:Ttc27	UTSW	17	74856549	missense	possibly damaging	0.80
R0633:Ttc27	UTSW	17	74729977	missense	probably benign	0.02
R1415:Ttc27	UTSW	17	74739672	missense	probably benign
R1597:Ttc27	UTSW	17	74863407	missense	possibly damaging	0.95
R1961:Ttc27	UTSW	17	74780856	missense	probably damaging	0.99
R2038:Ttc27	UTSW	17	74856502	missense	probably benign	0.00
R3012:Ttc27	UTSW	17	74840459	missense	probably benign	0.17
R3619:Ttc27	UTSW	17	74751128	splice site	probably null
R4155:Ttc27	UTSW	17	74840460	missense	probably benign	0.09
R4272:Ttc27	UTSW	17	74840360	missense	probably damaging	1.00
R4291:Ttc27	UTSW	17	74856479	missense	probably damaging	1.00
R4557:Ttc27	UTSW	17	74829549	missense	probably benign	0.00
R5068:Ttc27	UTSW	17	74799342	missense	probably damaging	1.00
R5069:Ttc27	UTSW	17	74799342	missense	probably damaging	1.00
R5070:Ttc27	UTSW	17	74799342	missense	probably damaging	1.00
R5074:Ttc27	UTSW	17	74747755	missense	probably damaging	1.00
R5169:Ttc27	UTSW	17	74747695	nonsense	probably null
R5203:Ttc27	UTSW	17	74777654	missense	probably damaging	1.00
R5272:Ttc27	UTSW	17	74742977	missense	probably damaging	1.00
R6260:Ttc27	UTSW	17	74858091	missense	probably damaging	0.99
R6797:Ttc27	UTSW	17	74729888	missense	probably benign	0.28
R6830:Ttc27	UTSW	17	74856555	nonsense	probably null
R6987:Ttc27	UTSW	17	74777741	critical splice donor site	probably null
R7121:Ttc27	UTSW	17	74747715	missense	probably benign	0.04
R7393:Ttc27	UTSW	17	74770264	missense	possibly damaging	0.79
R7543:Ttc27	UTSW	17	74717750	start gained	probably benign
R7635:Ttc27	UTSW	17	74718715	missense	probably benign	0.22
R8231:Ttc27	UTSW	17	74717964	missense	probably benign	0.19
R8365:Ttc27	UTSW	17	74747674	missense	probably damaging	1.00
R8464:Ttc27	UTSW	17	74717930	missense	probably benign
R8493:Ttc27	UTSW	17	74743052	critical splice donor site	probably null
X0026:Ttc27	UTSW	17	74856437	missense	probably benign	0.19

Posted On

2012-04-20