Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Cep78'

619628

Institutional Source

Beutler Lab

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

MMRRC Submission

067894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R8059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15958876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 156 (V156E)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

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

AlphaFold

Q6IRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000047704
AA Change: V156E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: V156E

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

0.0663

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,279 (GRCm39)	M3372K	probably benign	Het
Abcg3	A	T	5: 105,100,948 (GRCm39)		probably null	Het
Adam19	G	A	11: 46,027,293 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,344,794 (GRCm39)	T53K	probably damaging	Het
Ccdc141	A	C	2: 76,875,095 (GRCm39)	L705R	probably damaging	Het
Cers2	A	G	3: 95,229,982 (GRCm39)	D342G	probably damaging	Het
Chl1	T	A	6: 103,651,948 (GRCm39)	I272N	probably damaging	Het
Defb30	A	G	14: 63,273,383 (GRCm39)	*77Q	probably null	Het
Dnai3	C	G	3: 145,752,428 (GRCm39)	R749S	possibly damaging	Het
Dnm3	A	G	1: 161,911,708 (GRCm39)	V63A	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Entpd2	G	T	2: 25,288,096 (GRCm39)	V107L	probably damaging	Het
Hectd1	T	A	12: 51,837,161 (GRCm39)	H799L	possibly damaging	Het
Hira	T	C	16: 18,730,901 (GRCm39)	V200A	probably damaging	Het
Hspd1	T	C	1: 55,120,883 (GRCm39)	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,369,003 (GRCm39)	S326G	probably benign	Het
Kctd19	T	G	8: 106,122,983 (GRCm39)	I144L	probably benign	Het
Lama4	T	C	10: 38,842,057 (GRCm39)	I36T	probably benign	Het
Lrrn3	T	C	12: 41,504,216 (GRCm39)	T34A	probably benign	Het
Maco1	A	T	4: 134,555,359 (GRCm39)	C371*	probably null	Het
Maml3	A	G	3: 51,764,110 (GRCm39)	S285P	probably damaging	Het
Man2b2	A	G	5: 36,973,504 (GRCm39)	Y492H	probably damaging	Het
Mapk10	G	T	5: 103,114,478 (GRCm39)	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,481 (GRCm39)	R163C	probably damaging	Het
Mtmr7	C	T	8: 41,034,564 (GRCm39)	A253T	probably damaging	Het
Naca	C	T	10: 127,876,372 (GRCm39)	P468L	unknown	Het
Nckap1l	T	C	15: 103,401,714 (GRCm39)	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,040,173 (GRCm39)	*629W	probably null	Het
Nfkb1	C	T	3: 135,299,613 (GRCm39)	A731T	possibly damaging	Het
Nop2	T	C	6: 125,117,775 (GRCm39)	V442A	probably damaging	Het
Oaz2	C	T	9: 65,596,425 (GRCm39)	P163L	probably damaging	Het
Or5p57	T	C	7: 107,665,223 (GRCm39)	T231A	probably benign	Het
Or6d14	C	T	6: 116,533,434 (GRCm39)	T16I	possibly damaging	Het
Or8k23	A	G	2: 86,186,306 (GRCm39)	V140A	probably benign	Het
Pabpc2	A	T	18: 39,907,875 (GRCm39)	N380I	probably benign	Het
Pax3	T	C	1: 78,080,003 (GRCm39)	D461G	probably benign	Het
Pds5b	G	T	5: 150,731,300 (GRCm39)	R1443L	unknown	Het
Per1	G	A	11: 68,997,309 (GRCm39)	R828H	probably damaging	Het
Phlpp2	T	A	8: 110,622,189 (GRCm39)	S144T	probably benign	Het
Plod1	A	T	4: 148,012,941 (GRCm39)	I207N	probably damaging	Het
Psmc6	A	T	14: 45,578,260 (GRCm39)	I208F	probably damaging	Het
Rev3l	T	C	10: 39,719,491 (GRCm39)	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,521,214 (GRCm39)		probably benign	Het
Rtraf	T	C	14: 19,872,631 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,294,792 (GRCm39)	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,272,572 (GRCm39)	T348S	probably benign	Het
Slc39a8	G	T	3: 135,532,347 (GRCm39)	A39S	probably benign	Het
Slc8a3	C	T	12: 81,249,032 (GRCm39)	G799S	probably damaging	Het
Sp1	T	G	15: 102,316,337 (GRCm39)	S46R	possibly damaging	Het
Spta1	A	G	1: 174,045,936 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,882,198 (GRCm39)	P499L	probably benign	Het
Trav21-dv12	C	A	14: 54,114,178 (GRCm39)	D99E	probably damaging	Het
Trpv6	T	G	6: 41,601,520 (GRCm39)	I467L	probably benign	Het
Ttc41	A	G	10: 86,548,842 (GRCm39)	Y12C	probably benign	Het
Vmn1r233	T	C	17: 21,214,698 (GRCm39)	N84S	probably benign	Het
Vrtn	T	C	12: 84,696,690 (GRCm39)	F480S	probably benign	Het
Zc3h13	C	G	14: 75,565,250 (GRCm39)	R788G	unknown	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
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
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'- TAGCATCTGAGCAGGCACAG -3'
(R):5'- TTCCAGTTATGTAAGGCTCTTAGAGG -3'

Sequencing Primer
(F):5'- CACAGGAAGGAGGCAGCTC -3'
(R):5'- AGAGGCTGCTTAAGTGTATCAG -3'

Posted On

2020-01-23