Mutagenetix > Incidental Mutation

Incidental Mutation 'R2023:Cep68'

220148

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

6030463E10Rik

MMRRC Submission

040032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R2023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20177037-20199424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20189888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 375 (S375A)

Ref Sequence

ENSEMBL: ENSMUSP00000125113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]

AlphaFold

Q8C0D9

Predicted Effect

probably benign
Transcript: ENSMUST00000050611
AA Change: S375A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: S375A

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
SPEC	605	706	1.28e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109596
AA Change: S375A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: S375A

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
SCOP:d1quua1	594	648	1e-2	SMART
Blast:SPEC	605	646	6e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161218

Predicted Effect

probably benign
Transcript: ENSMUST00000162811
AA Change: S375A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: S375A

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,247 (GRCm39)	S447P	possibly damaging	Het
9930111J21Rik2	A	G	11: 48,911,144 (GRCm39)	F430L	probably benign	Het
Acap2	A	G	16: 30,938,233 (GRCm39)	V297A	probably damaging	Het
Adam3	G	A	8: 25,179,479 (GRCm39)	R613C	possibly damaging	Het
Akt1	C	T	12: 112,626,071 (GRCm39)	R67Q	probably benign	Het
Ambp	T	C	4: 63,069,702 (GRCm39)	Y108C	probably damaging	Het
Apob	A	G	12: 8,061,090 (GRCm39)	I3158V	probably benign	Het
Bank1	T	C	3: 136,031,679 (GRCm39)	T8A	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc88a	G	T	11: 29,413,546 (GRCm39)	E695*	probably null	Het
Cfap44	A	G	16: 44,236,375 (GRCm39)	I417V	probably benign	Het
Chrna2	T	A	14: 66,379,677 (GRCm39)	H5Q	probably benign	Het
Cog7	A	T	7: 121,536,193 (GRCm39)	I549K	probably damaging	Het
Col28a1	C	A	6: 8,083,783 (GRCm39)	S558I	possibly damaging	Het
Cyp4f14	A	G	17: 33,125,505 (GRCm39)	I385T	probably damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm5616	A	G	9: 48,361,928 (GRCm39)		noncoding transcript	Het
Gm5709	T	C	3: 59,543,142 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Itpr3	T	A	17: 27,321,785 (GRCm39)	M1054K	possibly damaging	Het
Kars1	T	C	8: 112,728,484 (GRCm39)	N200S	probably benign	Het
Kdm2a	C	A	19: 4,372,492 (GRCm39)	R951L	probably damaging	Het
Ldhd	T	A	8: 112,356,578 (GRCm39)	H61L	probably damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Micall2	A	G	5: 139,703,266 (GRCm39)	V190A	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,883 (GRCm39)	V627E	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nox3	A	G	17: 3,744,296 (GRCm39)		probably benign	Het
Or4b1d	G	T	2: 89,969,200 (GRCm39)	C94*	probably null	Het
Or5p63	A	G	7: 107,811,049 (GRCm39)	L229P	probably damaging	Het
Or6c1b	T	A	10: 129,273,451 (GRCm39)	Y257N	probably damaging	Het
Osbpl2	C	A	2: 179,791,969 (GRCm39)		probably null	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Pgr	T	A	9: 8,958,399 (GRCm39)	V802D	probably damaging	Het
Pgs1	A	G	11: 117,893,228 (GRCm39)	E55G	probably benign	Het
Pkd2	T	A	5: 104,614,744 (GRCm39)		probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Ptprd	C	T	4: 75,875,341 (GRCm39)	E1240K	probably damaging	Het
Recql5	G	A	11: 115,784,466 (GRCm39)	T878I	probably benign	Het
Rnf17	A	G	14: 56,669,036 (GRCm39)	D233G	possibly damaging	Het
Sectm1a	A	G	11: 120,960,408 (GRCm39)		probably benign	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Srcin1	A	G	11: 97,416,872 (GRCm39)	S931P	probably benign	Het
Tcof1	C	T	18: 60,966,605 (GRCm39)	G329R	probably damaging	Het
Thsd7a	G	A	6: 12,327,535 (GRCm39)	H1446Y	probably benign	Het
Tlr11	A	G	14: 50,600,026 (GRCm39)	T671A	probably damaging	Het
Tmem171	C	A	13: 98,828,733 (GRCm39)	W139L	probably damaging	Het
Vmn2r101	C	T	17: 19,810,368 (GRCm39)	R385*	probably null	Het
Vps13c	A	T	9: 67,843,567 (GRCm39)		probably benign	Het
Wdr87-ps	G	T	7: 29,230,959 (GRCm39)		noncoding transcript	Het
Zfp287	A	C	11: 62,605,808 (GRCm39)	Y366*	probably null	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp523	A	G	17: 28,419,978 (GRCm39)		probably benign	Het
Zfp667	A	C	7: 6,308,416 (GRCm39)	K361N	possibly damaging	Het

Other mutations in Cep68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Cep68	APN	11	20,189,510 (GRCm39)	missense	probably benign	0.14
IGL02404:Cep68	APN	11	20,190,004 (GRCm39)	missense	possibly damaging	0.89
IGL02441:Cep68	APN	11	20,189,186 (GRCm39)	missense	probably benign	0.01
IGL02554:Cep68	APN	11	20,190,096 (GRCm39)	missense	possibly damaging	0.61
IGL02732:Cep68	APN	11	20,186,109 (GRCm39)	unclassified	probably benign
PIT4366001:Cep68	UTSW	11	20,190,007 (GRCm39)	missense	probably benign	0.21
PIT4418001:Cep68	UTSW	11	20,189,731 (GRCm39)	missense	probably benign
R0399:Cep68	UTSW	11	20,180,571 (GRCm39)	missense	probably benign	0.10
R0792:Cep68	UTSW	11	20,190,652 (GRCm39)	missense	possibly damaging	0.76
R0882:Cep68	UTSW	11	20,189,393 (GRCm39)	missense	probably benign
R1163:Cep68	UTSW	11	20,190,539 (GRCm39)	missense	probably damaging	0.99
R1869:Cep68	UTSW	11	20,190,217 (GRCm39)	missense	probably damaging	1.00
R2901:Cep68	UTSW	11	20,190,187 (GRCm39)	missense	probably damaging	0.99
R2902:Cep68	UTSW	11	20,190,187 (GRCm39)	missense	probably damaging	0.99
R4292:Cep68	UTSW	11	20,190,079 (GRCm39)	missense	probably damaging	0.99
R4393:Cep68	UTSW	11	20,188,544 (GRCm39)	missense	probably benign	0.01
R4557:Cep68	UTSW	11	20,189,113 (GRCm39)	intron	probably benign
R4581:Cep68	UTSW	11	20,189,333 (GRCm39)	missense	probably benign	0.02
R4647:Cep68	UTSW	11	20,189,349 (GRCm39)	missense	probably benign	0.00
R4887:Cep68	UTSW	11	20,189,239 (GRCm39)	missense	probably benign	0.15
R5081:Cep68	UTSW	11	20,188,477 (GRCm39)	missense	probably damaging	0.98
R5658:Cep68	UTSW	11	20,191,885 (GRCm39)	critical splice donor site	probably null
R6380:Cep68	UTSW	11	20,180,498 (GRCm39)	missense	probably benign
R7444:Cep68	UTSW	11	20,189,438 (GRCm39)	missense	probably benign	0.01
R7455:Cep68	UTSW	11	20,180,571 (GRCm39)	missense	probably damaging	0.99
R7486:Cep68	UTSW	11	20,192,166 (GRCm39)	missense	probably benign	0.05
R8075:Cep68	UTSW	11	20,189,335 (GRCm39)	missense	probably benign	0.01
R8388:Cep68	UTSW	11	20,180,582 (GRCm39)	missense	probably damaging	1.00
R8407:Cep68	UTSW	11	20,190,446 (GRCm39)	missense	possibly damaging	0.62
R8501:Cep68	UTSW	11	20,189,132 (GRCm39)	missense	unknown
R8830:Cep68	UTSW	11	20,180,418 (GRCm39)	unclassified	probably benign
R8980:Cep68	UTSW	11	20,190,390 (GRCm39)	missense	probably benign
R9354:Cep68	UTSW	11	20,188,569 (GRCm39)	missense	probably damaging	1.00
R9534:Cep68	UTSW	11	20,190,686 (GRCm39)	missense	probably benign	0.00
R9597:Cep68	UTSW	11	20,188,506 (GRCm39)	missense	probably benign	0.00
R9780:Cep68	UTSW	11	20,192,142 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGCCTCTCTTCTGTCTGGGAAAG -3'
(R):5'- TCATGTCCTGACTGAGCCTG -3'

Sequencing Primer
(F):5'- GAAAGGGTGGCTCTTTCTCC -3'
(R):5'- CTGCAGGACTCAGGTGTAGATC -3'

Posted On

2014-08-25