Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Cep78'

702456

Institutional Source

Beutler Lab

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15955774-15984989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15974466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 325 (Y325C)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

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

AlphaFold

Q6IRU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047704
AA Change: Y325C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: Y325C

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

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
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly damaging	Het

Other mutations in Cep78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Cep78	APN	19	15969140	missense	probably benign
IGL00920:Cep78	APN	19	15981486	missense	probably benign	0.03
IGL01548:Cep78	APN	19	15981200	splice site	probably benign
IGL01662:Cep78	APN	19	15960995	missense	probably damaging	1.00
IGL01933:Cep78	APN	19	15955940	missense	probably benign
IGL02014:Cep78	APN	19	15984738	missense	probably damaging	1.00
IGL02198:Cep78	APN	19	15956369	missense	probably damaging	1.00
IGL02331:Cep78	APN	19	15974415	missense	probably benign	0.16
IGL02431:Cep78	APN	19	15959579	missense	probably benign
IGL02731:Cep78	APN	19	15956306	missense	probably benign	0.02
IGL03268:Cep78	APN	19	15974442	nonsense	probably null
IGL03338:Cep78	APN	19	15959623	missense	probably damaging	0.97
himalayas	UTSW	19	15969128	missense	possibly damaging	0.66
R0426:Cep78	UTSW	19	15970970	nonsense	probably null
R0619:Cep78	UTSW	19	15978862	missense	probably damaging	0.99
R0659:Cep78	UTSW	19	15956190	missense	probably damaging	0.97
R1517:Cep78	UTSW	19	15959663	missense	probably damaging	1.00
R1758:Cep78	UTSW	19	15959536	missense	probably damaging	1.00
R1836:Cep78	UTSW	19	15969169	missense	probably damaging	1.00
R1865:Cep78	UTSW	19	15956004	missense	probably damaging	1.00
R1920:Cep78	UTSW	19	15974351	splice site	probably benign
R2483:Cep78	UTSW	19	15960980	missense	probably damaging	1.00
R2958:Cep78	UTSW	19	15978909	missense	probably damaging	1.00
R3814:Cep78	UTSW	19	15981802	critical splice acceptor site	probably null
R4133:Cep78	UTSW	19	15969155	missense	probably damaging	1.00
R4214:Cep78	UTSW	19	15959579	missense	probably benign
R5783:Cep78	UTSW	19	15956359	missense	probably benign	0.02
R5791:Cep78	UTSW	19	15961072	missense	probably benign	0.19
R5910:Cep78	UTSW	19	15969128	missense	possibly damaging	0.66
R5924:Cep78	UTSW	19	15961066	missense	probably damaging	1.00
R6148:Cep78	UTSW	19	15981786	nonsense	probably null
R6162:Cep78	UTSW	19	15974940	missense	probably benign	0.28
R6235:Cep78	UTSW	19	15976486	splice site	probably null
R6968:Cep78	UTSW	19	15981738	missense	probably benign	0.38
R7228:Cep78	UTSW	19	15969197	missense	probably benign	0.01
R7913:Cep78	UTSW	19	15970577	missense	probably benign
R7914:Cep78	UTSW	19	15976308	missense	probably benign	0.30
R7934:Cep78	UTSW	19	15956390	missense	probably damaging	0.96
R8059:Cep78	UTSW	19	15981512	missense	probably benign	0.02
R8146:Cep78	UTSW	19	15956363	missense	probably damaging	1.00
R8532:Cep78	UTSW	19	15959584	missense	possibly damaging	0.81
R9039:Cep78	UTSW	19	15959543	missense	probably benign	0.44
R9062:Cep78	UTSW	19	15978954	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CTAACACATGGTAGGTGCAGG -3'
(R):5'- CTGCTATCTGAACTAAAATCAGGTGAC -3'

Sequencing Primer
(F):5'- TGCAGGTGTTGGAGACATAAAAAGC -3'
(R):5'- ACTCGATTTGTAGACCAGGC -3'

Posted On

2022-03-25