Mutagenetix > Incidental Mutation

Incidental Mutation 'R6977:Cep70'

542514

Institutional Source

Beutler Lab

Gene Symbol

Cep70

Ensembl Gene

ENSMUSG00000056267

Gene Name

centrosomal protein 70

Synonyms

C030018L16Rik, 6720484E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99125420-99182457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99173729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 420 (D420G)

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: D420G

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

SMART Domains

Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: D420G

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

probably damaging
Transcript: ENSMUST00000191335
AA Change: D420G

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

SMART Domains

Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: D420G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	A	13: 59,839,394 (GRCm39)	S17L	possibly damaging	Het
Acap2	G	T	16: 30,936,079 (GRCm39)	T336K	probably damaging	Het
Angptl7	A	T	4: 148,581,850 (GRCm39)	W179R	probably damaging	Het
Atp9b	A	G	18: 80,796,317 (GRCm39)	F909L	probably damaging	Het
BC051665	A	T	13: 60,932,486 (GRCm39)	Y66*	probably null	Het
C8b	A	G	4: 104,644,193 (GRCm39)	T287A	possibly damaging	Het
Camk2a	G	A	18: 61,093,076 (GRCm39)	G301E	probably damaging	Het
Ccdc186	A	G	19: 56,787,219 (GRCm39)	M583T	probably benign	Het
Cd55b	T	A	1: 130,347,528 (GRCm39)	K94N	probably damaging	Het
Celsr3	T	C	9: 108,704,914 (GRCm39)	S466P	probably benign	Het
Cep152	A	G	2: 125,410,742 (GRCm39)		probably null	Het
Cnih4	T	C	1: 180,989,713 (GRCm39)	S48P	possibly damaging	Het
Cpne8	T	C	15: 90,381,294 (GRCm39)	K507E	probably benign	Het
Cyp2b23	T	C	7: 26,380,745 (GRCm39)	Y160C	possibly damaging	Het
Dnah9	C	A	11: 65,998,735 (GRCm39)	M1104I	probably benign	Het
Fam135a	T	A	1: 24,093,179 (GRCm39)	N149I	probably damaging	Het
Fbxl4	A	T	4: 22,376,930 (GRCm39)	Q122L	probably benign	Het
Gm11232	T	C	4: 71,676,178 (GRCm39)		probably benign	Het
Gm5901	A	G	7: 105,026,367 (GRCm39)	Y45C	probably benign	Het
Gsap	A	T	5: 21,476,219 (GRCm39)	I553F	probably damaging	Het
Ifih1	A	G	2: 62,436,530 (GRCm39)	F631S	probably damaging	Het
Kics2	A	G	10: 121,581,371 (GRCm39)	H124R	probably damaging	Het
Kif21a	T	C	15: 90,865,040 (GRCm39)	D544G	probably damaging	Het
Klc2	G	A	19: 5,159,393 (GRCm39)	R552C	probably damaging	Het
Lamp1	T	C	8: 13,223,661 (GRCm39)	V293A	probably damaging	Het
Muc16	T	A	9: 18,556,633 (GRCm39)	D3220V	unknown	Het
Myb	A	T	10: 21,028,551 (GRCm39)	I104K	probably damaging	Het
Mycbp2	C	A	14: 103,392,342 (GRCm39)	R3227L	probably damaging	Het
Ncapd2	A	T	6: 125,148,472 (GRCm39)	L1053Q	probably damaging	Het
Nelfe	T	A	17: 35,073,688 (GRCm39)	V316E	probably damaging	Het
Noxred1	T	C	12: 87,268,091 (GRCm39)	I347V	probably null	Het
Or8g50	A	G	9: 39,648,330 (GRCm39)	Y73C	probably benign	Het
Plekha7	A	G	7: 115,735,202 (GRCm39)	V1033A	probably benign	Het
Plekhh1	G	C	12: 79,112,491 (GRCm39)	W589C	probably damaging	Het
Ppp6r3	A	T	19: 3,517,272 (GRCm39)	F658L	probably damaging	Het
Prss55	A	G	14: 64,316,785 (GRCm39)	M119T	probably damaging	Het
Rab28	G	A	5: 41,855,735 (GRCm39)	Q87*	probably null	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sdr16c6	A	T	4: 4,076,865 (GRCm39)	F11L	probably benign	Het
Serpinb5	T	G	1: 106,800,077 (GRCm39)	V89G	probably benign	Het
Slc12a9	A	T	5: 137,314,075 (GRCm39)	V628E	probably damaging	Het
Slc25a34	G	A	4: 141,347,809 (GRCm39)	R291C	probably damaging	Het
Slmap	C	T	14: 26,254,574 (GRCm39)	R36H	probably damaging	Het
Sybu	A	G	15: 44,541,091 (GRCm39)	S324P	probably benign	Het
Syk	A	T	13: 52,787,094 (GRCm39)	M363L	probably benign	Het
Tecpr2	T	C	12: 110,906,200 (GRCm39)	V934A	probably benign	Het
Thpo	A	G	16: 20,544,433 (GRCm39)	L200P	probably damaging	Het
Tiam2	T	A	17: 3,568,934 (GRCm39)	S1693R	probably damaging	Het
Usp48	A	G	4: 137,377,671 (GRCm39)	D232G	probably damaging	Het
Wasf1	A	G	10: 40,802,581 (GRCm39)	S79G	probably damaging	Het
Zfp90	G	T	8: 107,151,948 (GRCm39)	D554Y	probably damaging	Het
Zfp90	A	T	8: 107,151,949 (GRCm39)	D554V	probably damaging	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		probably benign	Het

Other mutations in Cep70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Cep70	APN	9	99,180,553 (GRCm39)	unclassified	probably benign
IGL02719:Cep70	APN	9	99,157,775 (GRCm39)	missense	probably damaging	0.99
IGL02878:Cep70	APN	9	99,163,160 (GRCm39)	splice site	probably benign
IGL02969:Cep70	APN	9	99,180,557 (GRCm39)	missense	possibly damaging	0.88
R0426:Cep70	UTSW	9	99,179,737 (GRCm39)	missense	probably benign	0.02
R0970:Cep70	UTSW	9	99,157,652 (GRCm39)	missense	possibly damaging	0.93
R1238:Cep70	UTSW	9	99,136,318 (GRCm39)	missense	probably benign	0.05
R1462:Cep70	UTSW	9	99,145,773 (GRCm39)	missense	probably benign	0.20
R1462:Cep70	UTSW	9	99,145,773 (GRCm39)	missense	probably benign	0.20
R2141:Cep70	UTSW	9	99,178,438 (GRCm39)	missense	probably damaging	1.00
R3922:Cep70	UTSW	9	99,157,632 (GRCm39)	makesense	probably null
R3964:Cep70	UTSW	9	99,180,587 (GRCm39)	missense	probably damaging	1.00
R3965:Cep70	UTSW	9	99,180,587 (GRCm39)	missense	probably damaging	1.00
R4044:Cep70	UTSW	9	99,144,662 (GRCm39)	missense	possibly damaging	0.66
R4174:Cep70	UTSW	9	99,128,366 (GRCm39)	start gained	probably benign
R4659:Cep70	UTSW	9	99,178,394 (GRCm39)	missense	possibly damaging	0.86
R4672:Cep70	UTSW	9	99,136,365 (GRCm39)	missense	possibly damaging	0.66
R4839:Cep70	UTSW	9	99,178,138 (GRCm39)	missense	probably benign	0.16
R5108:Cep70	UTSW	9	99,145,865 (GRCm39)	splice site	probably null
R5288:Cep70	UTSW	9	99,163,128 (GRCm39)	missense	probably damaging	1.00
R5386:Cep70	UTSW	9	99,163,128 (GRCm39)	missense	probably damaging	1.00
R5802:Cep70	UTSW	9	99,178,458 (GRCm39)	missense	probably damaging	0.96
R5934:Cep70	UTSW	9	99,136,318 (GRCm39)	missense	probably benign	0.05
R6076:Cep70	UTSW	9	99,180,558 (GRCm39)	missense	probably damaging	1.00
R6848:Cep70	UTSW	9	99,144,954 (GRCm39)	missense	probably benign	0.34
R7286:Cep70	UTSW	9	99,157,638 (GRCm39)	missense	probably damaging	1.00
R7437:Cep70	UTSW	9	99,173,582 (GRCm39)	missense	probably damaging	1.00
R7754:Cep70	UTSW	9	99,163,145 (GRCm39)	missense	probably damaging	1.00
R7879:Cep70	UTSW	9	99,144,686 (GRCm39)	missense	possibly damaging	0.54
R8063:Cep70	UTSW	9	99,178,175 (GRCm39)	missense	probably benign	0.02
R8299:Cep70	UTSW	9	99,144,914 (GRCm39)	missense	possibly damaging	0.95
R8466:Cep70	UTSW	9	99,160,073 (GRCm39)	critical splice donor site	probably null
R8684:Cep70	UTSW	9	99,145,842 (GRCm39)	missense	possibly damaging	0.93
R9017:Cep70	UTSW	9	99,181,829 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TACTGCCCATGCTTACAGGTG -3'
(R):5'- TACAGGATCAGAAATATGTAAGGCC -3'

Sequencing Primer
(F):5'- CCCATGCTTACAGGTGCTGTG -3'
(R):5'- GTCTATATAAAGAGTTCCAGGCCAGC -3'

Posted On

2018-11-28