Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:Cep78'

319374

Institutional Source

Beutler Lab

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R4214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15936943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 588 (T588A)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047704]

AlphaFold

Q6IRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000047704
AA Change: T588A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: T588A

Domain	Start	End	E-Value	Type
LRR	152	179	2.95e-3	SMART
Blast:LRR	180	207	1e-10	BLAST
LRR	231	259	6.28e-1	SMART
LRR	260	287	8.81e-2	SMART
LRR	288	313	1.96e2	SMART
low complexity region	427	450	N/A	INTRINSIC
coiled coil region	462	511	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,515,845 (GRCm39)		noncoding transcript	Het
Abca12	T	A	1: 71,327,856 (GRCm39)	D1408V	probably damaging	Het
Abca13	A	T	11: 9,243,877 (GRCm39)	L1913F	probably damaging	Het
Acad9	A	G	3: 36,127,752 (GRCm39)	E118G	probably damaging	Het
Adamts5	G	A	16: 85,665,531 (GRCm39)	A590V	probably damaging	Het
Ano6	A	C	15: 95,863,790 (GRCm39)	Y791S	probably benign	Het
Aox1	T	C	1: 58,346,603 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,261,051 (GRCm39)	I128N	probably damaging	Het
Atp2b3	A	G	X: 72,613,921 (GRCm39)	M1142V	probably benign	Het
AU041133	A	G	10: 81,987,223 (GRCm39)	H292R	probably damaging	Het
Bco2	A	G	9: 50,456,666 (GRCm39)	M158T	probably benign	Het
Bpnt1	T	A	1: 185,077,626 (GRCm39)		probably benign	Het
Cadm1	A	G	9: 47,708,741 (GRCm39)	D157G	probably damaging	Het
Catsperg1	T	C	7: 28,895,357 (GRCm39)	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,035,872 (GRCm39)	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,486,076 (GRCm39)	S524R	probably benign	Het
Cfap65	T	A	1: 74,966,840 (GRCm39)	E282D	possibly damaging	Het
Drd2	A	G	9: 49,316,221 (GRCm39)	K327R	probably benign	Het
Erich5	C	T	15: 34,471,557 (GRCm39)	P262L	possibly damaging	Het
Ezh2	A	C	6: 47,510,748 (GRCm39)	D578E	probably damaging	Het
Fez1	A	G	9: 36,781,784 (GRCm39)	N20S	probably damaging	Het
Folr2	T	G	7: 101,492,906 (GRCm39)	K39T	probably damaging	Het
Gm10549	G	T	18: 33,597,530 (GRCm39)		probably null	Het
Gm14393	C	T	2: 174,903,640 (GRCm39)	C89Y	probably benign	Het
Gm5329	T	G	7: 31,671,828 (GRCm39)		noncoding transcript	Het
Gm7367	A	G	7: 59,805,517 (GRCm39)		noncoding transcript	Het
Gpr162	A	T	6: 124,837,031 (GRCm39)	W338R	probably damaging	Het
Ift80	A	T	3: 68,898,141 (GRCm39)	F65I	possibly damaging	Het
Klra6	T	G	6: 129,995,885 (GRCm39)	I158L	probably benign	Het
Lpp	T	A	16: 24,580,804 (GRCm39)	Y173*	probably null	Het
Lrp12	A	G	15: 39,735,976 (GRCm39)	V671A	probably benign	Het
Lrrc27	C	T	7: 138,803,609 (GRCm39)	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,573,609 (GRCm39)	T225M	probably benign	Het
Megf8	T	A	7: 25,054,793 (GRCm39)	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,181,344 (GRCm39)	T109A	probably benign	Het
Mon2	T	C	10: 122,852,397 (GRCm39)	E992G	probably benign	Het
Msl3	A	G	X: 167,450,059 (GRCm39)	I267T	probably damaging	Het
Msl3	A	T	X: 167,445,430 (GRCm39)	N430K	probably damaging	Het
Nab2	G	T	10: 127,500,917 (GRCm39)	Y25*	probably null	Het
Notch3	T	C	17: 32,351,181 (GRCm39)	E1938G	possibly damaging	Het
Or5ae2	C	T	7: 84,506,497 (GRCm39)	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,354,167 (GRCm39)	T44A	probably damaging	Het
Pdpr	A	G	8: 111,856,212 (GRCm39)		probably benign	Het
Pfkp	A	G	13: 6,669,261 (GRCm39)	S241P	probably damaging	Het
Phgdh	A	T	3: 98,235,377 (GRCm39)	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,790,494 (GRCm39)	Q1055*	probably null	Het
Plscr2	A	G	9: 92,169,790 (GRCm39)	N80S	probably benign	Het
Polr3k	A	T	2: 181,510,035 (GRCm39)	M80L	probably benign	Het
Prex2	A	G	1: 11,171,383 (GRCm39)	D304G	probably damaging	Het
Prex2	A	G	1: 11,355,285 (GRCm39)	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,586,514 (GRCm39)	H91L	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Tbx18	T	C	9: 87,606,518 (GRCm39)	Y209C	probably damaging	Het
Themis3	T	C	17: 66,867,012 (GRCm39)	N76S	probably benign	Het
Trhde	A	T	10: 114,623,975 (GRCm39)	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,173 (GRCm39)	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,420,003 (GRCm39)	V216A	probably benign	Het

Other mutations in Cep78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Cep78	APN	19	15,946,504 (GRCm39)	missense	probably benign
IGL00920:Cep78	APN	19	15,958,850 (GRCm39)	missense	probably benign	0.03
IGL01548:Cep78	APN	19	15,958,564 (GRCm39)	splice site	probably benign
IGL01662:Cep78	APN	19	15,938,359 (GRCm39)	missense	probably damaging	1.00
IGL01933:Cep78	APN	19	15,933,304 (GRCm39)	missense	probably benign
IGL02014:Cep78	APN	19	15,962,102 (GRCm39)	missense	probably damaging	1.00
IGL02198:Cep78	APN	19	15,933,733 (GRCm39)	missense	probably damaging	1.00
IGL02331:Cep78	APN	19	15,951,779 (GRCm39)	missense	probably benign	0.16
IGL02431:Cep78	APN	19	15,936,943 (GRCm39)	missense	probably benign
IGL02731:Cep78	APN	19	15,933,670 (GRCm39)	missense	probably benign	0.02
IGL03268:Cep78	APN	19	15,951,806 (GRCm39)	nonsense	probably null
IGL03338:Cep78	APN	19	15,936,987 (GRCm39)	missense	probably damaging	0.97
himalayas	UTSW	19	15,946,492 (GRCm39)	missense	possibly damaging	0.66
R0426:Cep78	UTSW	19	15,948,334 (GRCm39)	nonsense	probably null
R0619:Cep78	UTSW	19	15,956,226 (GRCm39)	missense	probably damaging	0.99
R0659:Cep78	UTSW	19	15,933,554 (GRCm39)	missense	probably damaging	0.97
R1517:Cep78	UTSW	19	15,937,027 (GRCm39)	missense	probably damaging	1.00
R1758:Cep78	UTSW	19	15,936,900 (GRCm39)	missense	probably damaging	1.00
R1836:Cep78	UTSW	19	15,946,533 (GRCm39)	missense	probably damaging	1.00
R1865:Cep78	UTSW	19	15,933,368 (GRCm39)	missense	probably damaging	1.00
R1920:Cep78	UTSW	19	15,951,715 (GRCm39)	splice site	probably benign
R2483:Cep78	UTSW	19	15,938,344 (GRCm39)	missense	probably damaging	1.00
R2958:Cep78	UTSW	19	15,956,273 (GRCm39)	missense	probably damaging	1.00
R3814:Cep78	UTSW	19	15,959,166 (GRCm39)	critical splice acceptor site	probably null
R4133:Cep78	UTSW	19	15,946,519 (GRCm39)	missense	probably damaging	1.00
R5783:Cep78	UTSW	19	15,933,723 (GRCm39)	missense	probably benign	0.02
R5791:Cep78	UTSW	19	15,938,436 (GRCm39)	missense	probably benign	0.19
R5910:Cep78	UTSW	19	15,946,492 (GRCm39)	missense	possibly damaging	0.66
R5924:Cep78	UTSW	19	15,938,430 (GRCm39)	missense	probably damaging	1.00
R6148:Cep78	UTSW	19	15,959,150 (GRCm39)	nonsense	probably null
R6162:Cep78	UTSW	19	15,952,304 (GRCm39)	missense	probably benign	0.28
R6235:Cep78	UTSW	19	15,953,850 (GRCm39)	splice site	probably null
R6968:Cep78	UTSW	19	15,959,102 (GRCm39)	missense	probably benign	0.38
R7228:Cep78	UTSW	19	15,946,561 (GRCm39)	missense	probably benign	0.01
R7913:Cep78	UTSW	19	15,947,941 (GRCm39)	missense	probably benign
R7914:Cep78	UTSW	19	15,953,672 (GRCm39)	missense	probably benign	0.30
R7934:Cep78	UTSW	19	15,933,754 (GRCm39)	missense	probably damaging	0.96
R8059:Cep78	UTSW	19	15,958,876 (GRCm39)	missense	probably benign	0.02
R8146:Cep78	UTSW	19	15,933,727 (GRCm39)	missense	probably damaging	1.00
R8532:Cep78	UTSW	19	15,936,948 (GRCm39)	missense	possibly damaging	0.81
R9039:Cep78	UTSW	19	15,936,907 (GRCm39)	missense	probably benign	0.44
R9062:Cep78	UTSW	19	15,956,318 (GRCm39)	missense	probably benign	0.23
R9264:Cep78	UTSW	19	15,951,830 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGATGCTGCTTCTGGAAAC -3'
(R):5'- AGTAGGCGTCGGCTTCTAAGAG -3'

Sequencing Primer
(F):5'- GGAAACAGGTACAAACTTAGCTCTTC -3'
(R):5'- TCGTCCGCAGATGAATTC -3'

Posted On

2015-06-10