Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Cep70'

576679

Institutional Source

Beutler Lab

Gene Symbol

Cep70

Ensembl Gene

ENSMUSG00000056267

Gene Name

centrosomal protein 70

Synonyms

C030018L16Rik, 6720484E09Rik

MMRRC Submission

045513-MU

Accession Numbers

Essential gene?

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

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99125420-99182457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99173582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 371 (L371P)

Ref Sequence

ENSEMBL: ENSMUSP00000091312 (fasta)

Gene Model

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

AlphaFold

Q6IQY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093795
AA Change: L371P

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

SMART Domains

Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: L371P

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: L371P

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

SMART Domains

Protein: ENSMUSP00000139816
Gene: ENSMUSG00000056267
AA Change: L371P

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,619,472 (GRCm39)	I1192F	probably damaging	Het
Abca8a	A	G	11: 109,941,790 (GRCm39)	S1160P	probably benign	Het
Adamtsl2	A	G	2: 26,979,721 (GRCm39)	I297V	probably damaging	Het
Aebp1	T	A	11: 5,819,757 (GRCm39)	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,314,930 (GRCm39)	T28A	probably damaging	Het
Akap3	A	T	6: 126,842,618 (GRCm39)	K412N	probably damaging	Het
Atl1	A	G	12: 69,978,396 (GRCm39)	I123V	probably benign	Het
Atp10a	G	A	7: 58,308,288 (GRCm39)	R29H	unknown	Het
C4b	T	C	17: 34,953,707 (GRCm39)	D967G	probably benign	Het
Ccdc186	T	C	19: 56,795,429 (GRCm39)	N416S	probably damaging	Het
Ccna2	T	C	3: 36,625,239 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,230,753 (GRCm39)	C958*	probably null	Het
Crlf2	T	C	5: 109,702,839 (GRCm39)	D318G	probably benign	Het
Csf1	T	C	3: 107,658,072 (GRCm39)	N14D	probably benign	Het
Dars1	A	G	1: 128,299,941 (GRCm39)	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,389,453 (GRCm39)	E813G	probably damaging	Het
Ebi3	T	A	17: 56,261,410 (GRCm39)	M102K	probably benign	Het
Epg5	A	G	18: 78,066,493 (GRCm39)	D2131G	probably benign	Het
Fam186a	A	T	15: 99,840,775 (GRCm39)	L1823H	probably damaging	Het
H2-M3	T	C	17: 37,583,569 (GRCm39)	M309T	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ino80	A	G	2: 119,273,067 (GRCm39)	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,184,417 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,404,687 (GRCm39)	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,488,959 (GRCm39)	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,712,657 (GRCm39)	Y3226N		Het
Lrp1b	G	T	2: 40,712,658 (GRCm39)	D3225E		Het
Megf10	G	C	18: 57,395,203 (GRCm39)	G522R	probably damaging	Het
Nectin2	A	T	7: 19,483,193 (GRCm39)	L12*	probably null	Het
Ngef	A	T	1: 87,408,327 (GRCm39)	M580K	probably damaging	Het
Oga	A	T	19: 45,767,046 (GRCm39)	M110K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,687 (GRCm39)	M205V	probably benign	Het
Or1e1c	A	G	11: 73,265,844 (GRCm39)	S93G	probably benign	Het
Or5an1b	T	C	19: 12,299,472 (GRCm39)	N240D	probably damaging	Het
Pcdhb13	T	C	18: 37,577,728 (GRCm39)	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,619,145 (GRCm39)	I312V	probably benign	Het
Pglyrp3	A	G	3: 91,937,985 (GRCm39)	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,757,421 (GRCm39)	V1539A	probably damaging	Het
Prxl2b	C	A	4: 154,981,053 (GRCm39)	C194F	possibly damaging	Het
Rcn2	T	C	9: 55,965,353 (GRCm39)	L274P	probably damaging	Het
Rpp30	A	G	19: 36,081,838 (GRCm39)	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,289,230 (GRCm39)	M134V	probably damaging	Het
Samd3	A	T	10: 26,146,004 (GRCm39)	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,444 (GRCm39)	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,110,994 (GRCm39)	L604P	probably benign	Het
Strn3	A	T	12: 51,656,946 (GRCm39)	H777Q	probably damaging	Het
Tap1	G	A	17: 34,409,616 (GRCm39)	W284*	probably null	Het
Tlcd5	C	T	9: 43,023,080 (GRCm39)	W91*	probably null	Het
Tmem181a	A	G	17: 6,353,540 (GRCm39)	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,713,368 (GRCm39)	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,560 (GRCm39)	V19M	probably benign	Het
Zfp932	T	A	5: 110,157,880 (GRCm39)	M526K	probably benign	Het
Zfp959	G	T	17: 56,205,334 (GRCm39)	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,346,863 (GRCm39)	S300P	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
R6977:Cep70	UTSW	9	99,173,729 (GRCm39)	missense	probably damaging	1.00
R7286:Cep70	UTSW	9	99,157,638 (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'- GTGGATTATAACAGTCAATGACAGC -3'
(R):5'- CAGCTACTTACCTTTAAGGATGTCAG -3'

Sequencing Primer
(F):5'- GTCAATGACAGCTTTCAAACCC -3'
(R):5'- AAGGATGTCAGTTCATCTACCC -3'

Posted On

2019-10-07