Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Cep70'

448794

Institutional Source

Beutler Lab

Gene Symbol

Cep70

Ensembl Gene

ENSMUSG00000056267

Gene Name

centrosomal protein 70

Synonyms

C030018L16Rik, 6720484E09Rik

MMRRC Submission

043391-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99243367-99300404 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99296405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 519 (N519D)

Ref Sequence

ENSEMBL: ENSMUSP00000139816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093795] [ENSMUST00000191335]

AlphaFold

Q6IQY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093795
AA Change: N519D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: N519D

Domain	Start	End	E-Value	Type
coiled coil region	96	210	N/A	INTRINSIC
coiled coil region	278	299	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
low complexity region	528	544	N/A	INTRINSIC
low complexity region	591	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187883

Predicted Effect

probably damaging
Transcript: ENSMUST00000191335
AA Change: N519D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: N519D

Domain	Start	End	E-Value	Type
coiled coil region	96	210	N/A	INTRINSIC
coiled coil region	278	299	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
low complexity region	528	544	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191492

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676		probably null	Het
Atp2a3	T	C	11: 72,972,882	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420	I155N	probably damaging	Het
Clgn	T	C	8: 83,425,614	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091		probably null	Het
Dnah17	C	T	11: 118,036,446	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790	S56T	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm14409	T	C	2: 177,265,256	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105		probably benign	Het
Gm7030	A	G	17: 36,111,287		probably benign	Het
Gpr137	C	T	19: 6,942,005	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056	N309K	unknown	Het
Hydin	A	T	8: 110,452,060	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644		probably benign	Het
Sirpb1c	T	C	3: 15,832,076	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236		probably benign	Het
Wapl	A	G	14: 34,692,320	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Cep70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Cep70	APN	9	99298500	unclassified	probably benign
IGL02719:Cep70	APN	9	99275722	missense	probably damaging	0.99
IGL02878:Cep70	APN	9	99281107	splice site	probably benign
IGL02969:Cep70	APN	9	99298504	missense	possibly damaging	0.88
R0426:Cep70	UTSW	9	99297684	missense	probably benign	0.02
R0970:Cep70	UTSW	9	99275599	missense	possibly damaging	0.93
R1238:Cep70	UTSW	9	99254265	missense	probably benign	0.05
R1462:Cep70	UTSW	9	99263720	missense	probably benign	0.20
R1462:Cep70	UTSW	9	99263720	missense	probably benign	0.20
R2141:Cep70	UTSW	9	99296385	missense	probably damaging	1.00
R3922:Cep70	UTSW	9	99275579	makesense	probably null
R3964:Cep70	UTSW	9	99298534	missense	probably damaging	1.00
R3965:Cep70	UTSW	9	99298534	missense	probably damaging	1.00
R4044:Cep70	UTSW	9	99262609	missense	possibly damaging	0.66
R4174:Cep70	UTSW	9	99246313	start gained	probably benign
R4659:Cep70	UTSW	9	99296341	missense	possibly damaging	0.86
R4672:Cep70	UTSW	9	99254312	missense	possibly damaging	0.66
R4839:Cep70	UTSW	9	99296085	missense	probably benign	0.16
R5108:Cep70	UTSW	9	99263812	splice site	probably null
R5288:Cep70	UTSW	9	99281075	missense	probably damaging	1.00
R5386:Cep70	UTSW	9	99281075	missense	probably damaging	1.00
R5934:Cep70	UTSW	9	99254265	missense	probably benign	0.05
R6076:Cep70	UTSW	9	99298505	missense	probably damaging	1.00
R6848:Cep70	UTSW	9	99262901	missense	probably benign	0.34
R6977:Cep70	UTSW	9	99291676	missense	probably damaging	1.00
R7286:Cep70	UTSW	9	99275585	missense	probably damaging	1.00
R7437:Cep70	UTSW	9	99291529	missense	probably damaging	1.00
R7754:Cep70	UTSW	9	99281092	missense	probably damaging	1.00
R7879:Cep70	UTSW	9	99262633	missense	possibly damaging	0.54
R8063:Cep70	UTSW	9	99296122	missense	probably benign	0.02
R8299:Cep70	UTSW	9	99262861	missense	possibly damaging	0.95
R8466:Cep70	UTSW	9	99278020	critical splice donor site	probably null
R8684:Cep70	UTSW	9	99263789	missense	possibly damaging	0.93
R9017:Cep70	UTSW	9	99299776	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACCAGAAAGAGGTAACGTTTGATAC -3'
(R):5'- TGAGAACAAGGCAACATTGTC -3'

Sequencing Primer
(F):5'- CGCCGAACTCTCAAACTT -3'
(R):5'- GGCAACATTGTCACCAAACC -3'

Posted On

2016-12-15