Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Ttc27'

397479

Institutional Source

Beutler Lab

Gene Symbol

Ttc27

Ensembl Gene

ENSMUSG00000024078

Gene Name

tetratricopeptide repeat domain 27

Synonyms

2610511O17Rik

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75024730-75170565 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 75054690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 332 (L332*)

Ref Sequence

ENSEMBL: ENSMUSP00000024882 (fasta)

Gene Model

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

AlphaFold

Q8CD92

Predicted Effect

probably null
Transcript: ENSMUST00000024882
AA Change: L332*

SMART Domains

Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: L332*

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Rragc	A	G	4: 123,829,457 (GRCm39)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	probably damaging	Het

Other mutations in Ttc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ttc27	APN	17	75,087,811 (GRCm39)	missense	probably damaging	1.00
IGL01508:Ttc27	APN	17	75,142,352 (GRCm39)	missense	probably damaging	0.98
IGL02010:Ttc27	APN	17	75,087,906 (GRCm39)	splice site	probably benign
IGL02189:Ttc27	APN	17	75,036,894 (GRCm39)	missense	probably damaging	0.99
IGL02487:Ttc27	APN	17	75,163,549 (GRCm39)	missense	probably damaging	1.00
IGL02745:Ttc27	APN	17	75,046,728 (GRCm39)	missense	probably benign	0.37
IGL02816:Ttc27	APN	17	75,054,769 (GRCm39)	splice site	probably benign
IGL03389:Ttc27	APN	17	75,165,028 (GRCm39)	missense	probably benign	0.00
R0024:Ttc27	UTSW	17	75,077,259 (GRCm39)	missense	possibly damaging	0.79
R0511:Ttc27	UTSW	17	75,025,710 (GRCm39)	missense	probably benign	0.22
R0518:Ttc27	UTSW	17	75,163,544 (GRCm39)	missense	possibly damaging	0.80
R0521:Ttc27	UTSW	17	75,163,544 (GRCm39)	missense	possibly damaging	0.80
R0633:Ttc27	UTSW	17	75,036,972 (GRCm39)	missense	probably benign	0.02
R1415:Ttc27	UTSW	17	75,046,667 (GRCm39)	missense	probably benign
R1597:Ttc27	UTSW	17	75,170,402 (GRCm39)	missense	possibly damaging	0.95
R1961:Ttc27	UTSW	17	75,087,851 (GRCm39)	missense	probably damaging	0.99
R2038:Ttc27	UTSW	17	75,163,497 (GRCm39)	missense	probably benign	0.00
R3012:Ttc27	UTSW	17	75,147,454 (GRCm39)	missense	probably benign	0.17
R3619:Ttc27	UTSW	17	75,058,123 (GRCm39)	splice site	probably null
R4155:Ttc27	UTSW	17	75,147,455 (GRCm39)	missense	probably benign	0.09
R4272:Ttc27	UTSW	17	75,147,355 (GRCm39)	missense	probably damaging	1.00
R4291:Ttc27	UTSW	17	75,163,474 (GRCm39)	missense	probably damaging	1.00
R4557:Ttc27	UTSW	17	75,136,544 (GRCm39)	missense	probably benign	0.00
R5068:Ttc27	UTSW	17	75,106,337 (GRCm39)	missense	probably damaging	1.00
R5069:Ttc27	UTSW	17	75,106,337 (GRCm39)	missense	probably damaging	1.00
R5070:Ttc27	UTSW	17	75,106,337 (GRCm39)	missense	probably damaging	1.00
R5074:Ttc27	UTSW	17	75,054,750 (GRCm39)	missense	probably damaging	1.00
R5203:Ttc27	UTSW	17	75,084,649 (GRCm39)	missense	probably damaging	1.00
R5272:Ttc27	UTSW	17	75,049,972 (GRCm39)	missense	probably damaging	1.00
R6260:Ttc27	UTSW	17	75,165,086 (GRCm39)	missense	probably damaging	0.99
R6797:Ttc27	UTSW	17	75,036,883 (GRCm39)	missense	probably benign	0.28
R6830:Ttc27	UTSW	17	75,163,550 (GRCm39)	nonsense	probably null
R6987:Ttc27	UTSW	17	75,084,736 (GRCm39)	critical splice donor site	probably null
R7121:Ttc27	UTSW	17	75,054,710 (GRCm39)	missense	probably benign	0.04
R7393:Ttc27	UTSW	17	75,077,259 (GRCm39)	missense	possibly damaging	0.79
R7543:Ttc27	UTSW	17	75,024,745 (GRCm39)	start gained	probably benign
R7635:Ttc27	UTSW	17	75,025,710 (GRCm39)	missense	probably benign	0.22
R8231:Ttc27	UTSW	17	75,024,959 (GRCm39)	missense	probably benign	0.19
R8365:Ttc27	UTSW	17	75,054,669 (GRCm39)	missense	probably damaging	1.00
R8464:Ttc27	UTSW	17	75,024,925 (GRCm39)	missense	probably benign
R8493:Ttc27	UTSW	17	75,050,047 (GRCm39)	critical splice donor site	probably null
R8687:Ttc27	UTSW	17	75,046,679 (GRCm39)	missense	probably benign	0.00
X0026:Ttc27	UTSW	17	75,163,432 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGCATGCTGACCACATTTAGG -3'
(R):5'- TTGCCCAAGAAGTCTCCACC -3'

Sequencing Primer
(F):5'- TACACAGGTATGGTGCTACAGTCC -3'
(R):5'- GAAGTCTCCACCTTCACAAGC -3'

Posted On

2016-07-06