Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Cep78'

61810

Institutional Source

Beutler Lab

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R0659 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15933554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 675 (V675M)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

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

AlphaFold

Q6IRU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047704
AA Change: V675M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: V675M

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	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
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
R4214:Cep78	UTSW	19	15,936,943 (GRCm39)	missense	probably benign
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'- TGCTGACGAATGGACACGTTCC -3'
(R):5'- ACCAGCGATGCTCTGATTCCTTTAC -3'

Sequencing Primer
(F):5'- GGACACGTTCCTGAAGTTCAAAATC -3'
(R):5'- TTACCTCTGAACACCGTCCAG -3'

Posted On

2013-07-30