Mutagenetix > Incidental Mutation

Incidental Mutation 'R5081:Cep68'

387136

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

6030463E10Rik

MMRRC Submission

042670-MU

Accession Numbers

Essential gene?

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

Stock #

R5081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20177037-20199424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20188477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 643 (Q643K)

Ref Sequence

ENSEMBL: ENSMUSP00000105225 (fasta)

Gene Model

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

AlphaFold

Q8C0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050611
AA Change: Q643K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: Q643K

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 damaging
Transcript: ENSMUST00000109596
AA Change: Q643K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: Q643K

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

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066

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

0.1127

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

93% (65/70)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aig1	A	G	10: 13,677,644 (GRCm39)	I116T	probably benign	Het
Alox12	A	T	11: 70,146,140 (GRCm39)		probably null	Het
Ap3s1	T	A	18: 46,887,497 (GRCm39)	D43E	probably benign	Het
Arhgap35	A	G	7: 16,299,059 (GRCm39)	M2T	possibly damaging	Het
Asah2	T	A	19: 31,991,708 (GRCm39)	E451V	probably benign	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Ass1	G	A	2: 31,378,665 (GRCm39)		probably null	Het
Ccpg1	A	G	9: 72,906,360 (GRCm39)	T39A	possibly damaging	Het
Cd101	T	A	3: 100,911,021 (GRCm39)	Y879F	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh23	T	C	10: 60,272,586 (GRCm39)	T530A	possibly damaging	Het
Ces1c	A	G	8: 93,854,197 (GRCm39)	S113P	probably damaging	Het
Cnga4	T	C	7: 105,056,232 (GRCm39)	I278T	probably benign	Het
Col1a1	A	G	11: 94,842,402 (GRCm39)	D1440G	unknown	Het
Cspp1	A	G	1: 10,117,691 (GRCm39)	I48V	possibly damaging	Het
Ctsj	T	A	13: 61,151,664 (GRCm39)	S85C	possibly damaging	Het
Cyp39a1	C	A	17: 44,057,488 (GRCm39)	D442E	probably damaging	Het
Dock3	A	T	9: 106,868,292 (GRCm39)	F664Y	probably damaging	Het
Gpcpd1	A	T	2: 132,389,622 (GRCm39)	H244Q	probably benign	Het
Gtf3a	T	A	5: 146,888,092 (GRCm39)	V131E	probably benign	Het
Gtpbp3	A	T	8: 71,943,026 (GRCm39)	R147W	probably damaging	Het
H2-Oa	A	T	17: 34,313,344 (GRCm39)	I132F	probably damaging	Het
Hsd17b8	G	A	17: 34,246,552 (GRCm39)		probably benign	Het
Idi1	T	A	13: 8,937,963 (GRCm39)	C91*	probably null	Het
Itga11	A	G	9: 62,662,478 (GRCm39)	I484V	probably benign	Het
Kpna3	C	T	14: 61,628,694 (GRCm39)	S101N	probably damaging	Het
Larp4	G	A	15: 99,870,898 (GRCm39)		probably benign	Het
Mink1	T	C	11: 70,495,970 (GRCm39)	L390P	probably damaging	Het
Morc1	T	G	16: 48,322,715 (GRCm39)	S337R	probably benign	Het
Myo10	A	G	15: 25,786,026 (GRCm39)	R1236G	probably damaging	Het
Nkx3-1	T	C	14: 69,429,396 (GRCm39)	I138T	possibly damaging	Het
Nnt	T	C	13: 119,502,936 (GRCm39)	N489S	probably damaging	Het
Nrcam	A	T	12: 44,617,136 (GRCm39)	I711F	probably benign	Het
Ntrk3	A	G	7: 78,227,522 (GRCm39)	S4P	probably damaging	Het
Obsl1	T	C	1: 75,464,607 (GRCm39)	T1605A	possibly damaging	Het
Or1j17	A	G	2: 36,578,655 (GRCm39)	I214V	possibly damaging	Het
Or7g32	A	G	9: 19,408,557 (GRCm39)	E171G	probably benign	Het
Pank1	T	C	19: 34,856,316 (GRCm39)	H54R	probably benign	Het
Pgm2l1	A	G	7: 99,917,472 (GRCm39)	I530V	probably benign	Het
Psmd2	A	G	16: 20,480,405 (GRCm39)	T709A	probably benign	Het
Qsox1	G	T	1: 155,688,581 (GRCm39)		probably benign	Het
Rbm14	A	G	19: 4,852,823 (GRCm39)	S520P	probably benign	Het
Rbm15b	G	A	9: 106,762,120 (GRCm39)	R683C	probably benign	Het
Rhbdd2	T	A	5: 135,664,876 (GRCm39)	V69D	probably damaging	Het
Sart1	T	C	19: 5,438,576 (GRCm39)	E27G	possibly damaging	Het
Scn4a	G	A	11: 106,239,553 (GRCm39)	P153L	probably damaging	Het
Serpinb6d	A	T	13: 33,855,230 (GRCm39)	R301S	probably benign	Het
Sf3a2	C	A	10: 80,640,275 (GRCm39)		probably benign	Het
Syne1	T	C	10: 4,997,767 (GRCm39)	D400G	probably benign	Het
Tenm2	T	C	11: 35,915,460 (GRCm39)	S2025G	possibly damaging	Het
Ttc16	A	T	2: 32,657,988 (GRCm39)	D476E	probably damaging	Het
Ttc9c	A	T	19: 8,793,396 (GRCm39)	C81*	probably null	Het
Ulk2	G	A	11: 61,694,488 (GRCm39)	P474L	probably damaging	Het
Vmn1r66	A	G	7: 10,008,722 (GRCm39)	C104R	probably damaging	Het
Vwa2	C	T	19: 56,897,752 (GRCm39)	H686Y	probably 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
R2023:Cep68	UTSW	11	20,189,888 (GRCm39)	missense	probably benign
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
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'- CAAACTCCTCTAAAGCATTCTGG -3'
(R):5'- AGGCAGACTTCATCACTGAGC -3'

Sequencing Primer
(F):5'- AGCATTCTGGCTCCAATGTATG -3'
(R):5'- TGAGCTCAGTCCAGCCCAC -3'

Posted On

2016-06-06