Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Cep70'

597449

Institutional Source

Beutler Lab

Gene Symbol

Cep70

Ensembl Gene

ENSMUSG00000056267

Gene Name

centrosomal protein 70

Synonyms

C030018L16Rik, 6720484E09Rik

MMRRC Submission

045810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99243367-99300404 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99281092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 331 (K331E)

Ref Sequence

ENSEMBL: ENSMUSP00000091312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093795] [ENSMUST00000191014] [ENSMUST00000191335]

AlphaFold

Q6IQY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093795
AA Change: K331E

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

SMART Domains

Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: K331E

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 benign
Transcript: ENSMUST00000191014

Predicted Effect

probably damaging
Transcript: ENSMUST00000191335
AA Change: K331E

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

SMART Domains

Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: K331E

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

Meta Mutation Damage Score

0.1648

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,304,843 (GRCm38)		probably null	Het
2410089E03Rik	C	A	15: 8,243,826 (GRCm38)	Q2534K	possibly damaging	Het
4930553M12Rik	A	T	4: 88,868,259 (GRCm38)	W41R	unknown	Het
Aatf	G	A	11: 84,511,509 (GRCm38)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,302,887 (GRCm38)	V972L	probably benign	Het
Abcb11	T	A	2: 69,286,818 (GRCm38)	R495S	probably damaging	Het
Acss2	T	A	2: 155,561,166 (GRCm38)	H621Q	probably benign	Het
Akap9	T	C	5: 4,046,736 (GRCm38)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,559,302 (GRCm38)	A597T	probably damaging	Het
Cacna1d	A	T	14: 30,075,852 (GRCm38)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,413,117 (GRCm38)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,587,375 (GRCm38)	P1457Q	probably damaging	Het
D430041D05Rik	A	T	2: 104,257,159 (GRCm38)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,025,720 (GRCm38)	I3898V	probably benign	Het
Drd2	A	G	9: 49,404,977 (GRCm38)	T346A	probably benign	Het
Efcab9	T	C	11: 32,522,941 (GRCm38)	T169A	possibly damaging	Het
Fam163a	A	T	1: 156,079,983 (GRCm38)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,438,563 (GRCm38)	D457N	probably benign	Het
Fbn1	A	T	2: 125,479,280 (GRCm38)		probably null	Het
Gpr37	A	T	6: 25,689,050 (GRCm38)	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,172,831 (GRCm38)	D265G	probably benign	Het
Idh1	G	T	1: 65,159,490 (GRCm38)	A407D	probably benign	Het
Ifna12	A	G	4: 88,603,178 (GRCm38)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,734,250 (GRCm38)	M109V	probably benign	Het
Jag2	A	T	12: 112,915,469 (GRCm38)		probably null	Het
Lca5l	T	C	16: 96,159,561 (GRCm38)	D572G	unknown	Het
Lcn11	G	A	2: 25,777,818 (GRCm38)	V73I	probably benign	Het
Lrba	A	G	3: 86,445,397 (GRCm38)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,813,238 (GRCm38)		probably null	Het
Malrd1	G	A	2: 15,797,799 (GRCm38)		probably null	Het
Morc2b	C	A	17: 33,137,244 (GRCm38)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Myo5b	A	T	18: 74,634,559 (GRCm38)	T313S	probably benign	Het
Neto2	C	A	8: 85,669,700 (GRCm38)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,434,303 (GRCm38)	V623I	probably damaging	Het
Olfr364-ps1	A	G	2: 37,146,846 (GRCm38)	I211M	possibly damaging	Het
Olfr371	T	A	8: 85,230,798 (GRCm38)	M101K	possibly damaging	Het
Olfr384	C	T	11: 73,603,506 (GRCm38)	Q309*	probably null	Het
Olfr603	C	A	7: 103,383,738 (GRCm38)	W88L	probably damaging	Het
Olfr825	T	G	10: 130,162,829 (GRCm38)	T166P	probably damaging	Het
Optc	A	G	1: 133,906,992 (GRCm38)	S15P	possibly damaging	Het
Otogl	A	G	10: 107,869,546 (GRCm38)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,689,970 (GRCm38)	S5P	probably benign	Het
Pde3a	A	T	6: 141,459,249 (GRCm38)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,586,408 (GRCm38)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,552,869 (GRCm38)		probably null	Het
Plxna4	G	T	6: 32,152,872 (GRCm38)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,256,701 (GRCm38)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,757,746 (GRCm38)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,462,072 (GRCm38)		probably null	Het
Rps6ka2	T	A	17: 7,277,449 (GRCm38)		probably null	Het
Rptn	A	T	3: 93,395,921 (GRCm38)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,308,429 (GRCm38)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,265,045 (GRCm38)	H101L	probably benign	Het
Sept3	A	G	15: 82,290,773 (GRCm38)	N305S	probably benign	Het
Serpina3f	G	T	12: 104,217,306 (GRCm38)	K142N	possibly damaging	Het
Ssh1	C	A	5: 113,966,234 (GRCm38)	R116L	probably benign	Het
Taf4	G	A	2: 179,932,029 (GRCm38)	T682M	probably damaging	Het
Tlr6	T	C	5: 64,954,350 (GRCm38)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,121,700 (GRCm38)	A70T	probably benign	Het
Ttn	A	T	2: 76,825,505 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,788,196 (GRCm38)	I16248N	probably damaging	Het
Vldlr	A	T	19: 27,217,615 (GRCm38)	M1L	probably benign	Het
Wscd1	A	G	11: 71,784,365 (GRCm38)	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,357,703 (GRCm38)		probably null	Het
Zfp827	T	C	8: 79,190,329 (GRCm38)	V511A		Het

Other mutations in Cep70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Cep70	APN	9	99,298,500 (GRCm38)	unclassified	probably benign
IGL02719:Cep70	APN	9	99,275,722 (GRCm38)	missense	probably damaging	0.99
IGL02878:Cep70	APN	9	99,281,107 (GRCm38)	splice site	probably benign
IGL02969:Cep70	APN	9	99,298,504 (GRCm38)	missense	possibly damaging	0.88
R0426:Cep70	UTSW	9	99,297,684 (GRCm38)	missense	probably benign	0.02
R0970:Cep70	UTSW	9	99,275,599 (GRCm38)	missense	possibly damaging	0.93
R1238:Cep70	UTSW	9	99,254,265 (GRCm38)	missense	probably benign	0.05
R1462:Cep70	UTSW	9	99,263,720 (GRCm38)	missense	probably benign	0.20
R1462:Cep70	UTSW	9	99,263,720 (GRCm38)	missense	probably benign	0.20
R2141:Cep70	UTSW	9	99,296,385 (GRCm38)	missense	probably damaging	1.00
R3922:Cep70	UTSW	9	99,275,579 (GRCm38)	makesense	probably null
R3964:Cep70	UTSW	9	99,298,534 (GRCm38)	missense	probably damaging	1.00
R3965:Cep70	UTSW	9	99,298,534 (GRCm38)	missense	probably damaging	1.00
R4044:Cep70	UTSW	9	99,262,609 (GRCm38)	missense	possibly damaging	0.66
R4174:Cep70	UTSW	9	99,246,313 (GRCm38)	start gained	probably benign
R4659:Cep70	UTSW	9	99,296,341 (GRCm38)	missense	possibly damaging	0.86
R4672:Cep70	UTSW	9	99,254,312 (GRCm38)	missense	possibly damaging	0.66
R4839:Cep70	UTSW	9	99,296,085 (GRCm38)	missense	probably benign	0.16
R5108:Cep70	UTSW	9	99,263,812 (GRCm38)	splice site	probably null
R5288:Cep70	UTSW	9	99,281,075 (GRCm38)	missense	probably damaging	1.00
R5386:Cep70	UTSW	9	99,281,075 (GRCm38)	missense	probably damaging	1.00
R5802:Cep70	UTSW	9	99,296,405 (GRCm38)	missense	probably damaging	0.96
R5934:Cep70	UTSW	9	99,254,265 (GRCm38)	missense	probably benign	0.05
R6076:Cep70	UTSW	9	99,298,505 (GRCm38)	missense	probably damaging	1.00
R6848:Cep70	UTSW	9	99,262,901 (GRCm38)	missense	probably benign	0.34
R6977:Cep70	UTSW	9	99,291,676 (GRCm38)	missense	probably damaging	1.00
R7286:Cep70	UTSW	9	99,275,585 (GRCm38)	missense	probably damaging	1.00
R7437:Cep70	UTSW	9	99,291,529 (GRCm38)	missense	probably damaging	1.00
R7879:Cep70	UTSW	9	99,262,633 (GRCm38)	missense	possibly damaging	0.54
R8063:Cep70	UTSW	9	99,296,122 (GRCm38)	missense	probably benign	0.02
R8299:Cep70	UTSW	9	99,262,861 (GRCm38)	missense	possibly damaging	0.95
R8466:Cep70	UTSW	9	99,278,020 (GRCm38)	critical splice donor site	probably null
R8684:Cep70	UTSW	9	99,263,789 (GRCm38)	missense	possibly damaging	0.93
R9017:Cep70	UTSW	9	99,299,776 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AAAATGCCTAGTAAACACCTAAGAG -3'
(R):5'- TCAGAAATATCTCCTTTTCCATTGTT -3'

Sequencing Primer
(F):5'- AGCACGGTCTATTTTCCAGAGGAC -3'
(R):5'- AACTGAGCTTTGCTATATGGACCAGG -3'

Posted On

2019-11-26