Mutagenetix > Incidental Mutation

Incidental Mutation 'R3012:Ttc27'

257550

Institutional Source

Beutler Lab

Gene Symbol

Ttc27

Ensembl Gene

ENSMUSG00000024078

Gene Name

tetratricopeptide repeat domain 27

Synonyms

2610511O17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R3012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74717750-74863570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74840459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 669 (I669F)

Ref Sequence

ENSEMBL: ENSMUSP00000024882 (fasta)

Gene Model

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

AlphaFold

Q8CD92

Predicted Effect

probably benign
Transcript: ENSMUST00000024882
AA Change: I669F

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: I669F

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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	G	T	19: 40,557,691	Y585*	probably null	Het
Ankrd17	G	A	5: 90,230,868	P2563S	probably damaging	Het
Atg10	A	T	13: 91,154,278	F47Y	probably damaging	Het
Ccdc39	C	T	3: 33,814,668	R798Q	probably damaging	Het
Cfi	A	G	3: 129,874,930	D535G	probably damaging	Het
Dgat1	T	A	15: 76,503,393	Q308H	possibly damaging	Het
Dsp	T	C	13: 38,193,342	I1701T	possibly damaging	Het
E330009J07Rik	T	C	6: 40,435,992	E45G	probably benign	Het
Egr2	GAA	GA	10: 67,539,903		probably null	Het
Fes	G	C	7: 80,387,167	S56R	possibly damaging	Het
Gria1	G	A	11: 57,289,434	V737M	probably damaging	Het
Gtf2h1	A	G	7: 46,803,895	H84R	probably damaging	Het
Ifi208	A	G	1: 173,695,570		probably null	Het
Il15	T	A	8: 82,344,420	N22I	probably damaging	Het
Me1	A	G	9: 86,611,912	S323P	probably benign	Het
Olfr713	T	C	7: 107,036,362	F69S	possibly damaging	Het
Parp4	T	C	14: 56,595,416		probably null	Het
Pcdhga7	A	G	18: 37,715,638	T233A	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rpe65	G	T	3: 159,604,563	V128F	possibly damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Tbc1d32	A	G	10: 56,173,915	V509A	probably benign	Het
Tln1	T	A	4: 43,542,525	T1428S	probably benign	Het
Tubb3	T	G	8: 123,421,236	C303G	probably damaging	Het
Tulp2	G	T	7: 45,518,763	V188L	probably damaging	Het
Zfr	T	C	15: 12,166,163	Y840H	probably damaging	Het

Other mutations in Ttc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ttc27	APN	17	74780816	missense	probably damaging	1.00
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
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
R8687:Ttc27	UTSW	17	74739684	missense	probably benign	0.00
X0026:Ttc27	UTSW	17	74856437	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACCTTCCTCAGAGTCAAAGC -3'
(R):5'- TAAGTCAGAGTGGCATACCTGAAC -3'

Sequencing Primer
(F):5'- CCTCAGAGTCAAAGCTTTTAGAACG -3'
(R):5'- CAGCAATACTGTATGTGATGGCACC -3'

Posted On

2015-01-11