Mutagenetix > Incidental Mutation

Incidental Mutation 'R9354:Cep68'

708277

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

6030463E10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20177037-20199424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20188569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 612 (E612G)

Ref Sequence

ENSEMBL: ENSMUSP00000054943 (fasta)

Gene Model

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

AlphaFold

Q8C0D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050611
AA Change: E612G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: E612G

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: E612G

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

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: E612G

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,873 (GRCm39)	Q181R	unknown	Het
Acsl1	T	G	8: 46,966,753 (GRCm39)	C242G	probably benign	Het
Agap2	A	C	10: 126,923,104 (GRCm39)	N646T	unknown	Het
Ankrd44	A	T	1: 54,687,438 (GRCm39)	*994R	probably null	Het
Apol7c	C	T	15: 77,410,112 (GRCm39)	R278H	possibly damaging	Het
Birc6	A	G	17: 74,921,401 (GRCm39)	E2166G	probably benign	Het
Caskin2	G	A	11: 115,693,468 (GRCm39)	T528M	probably damaging	Het
Ccdc30	G	T	4: 119,230,850 (GRCm39)	P15Q	possibly damaging	Het
Cemip2	A	G	19: 21,779,389 (GRCm39)	S400G	probably benign	Het
Cenpf	G	A	1: 189,379,114 (GRCm39)	T45I		Het
Chpf2	T	C	5: 24,796,392 (GRCm39)	L446P	probably damaging	Het
Ctsl	A	T	13: 64,516,850 (GRCm39)	Y40N	probably damaging	Het
Dis3l	T	C	9: 64,221,922 (GRCm39)	N496S	probably benign	Het
Espnl	A	T	1: 91,272,323 (GRCm39)	D561V	probably benign	Het
Flnb	T	A	14: 7,818,411 (GRCm38)	L87Q	probably benign	Het
Gbp9	T	A	5: 105,232,825 (GRCm39)	I276F	possibly damaging	Het
Gid4	G	T	11: 60,308,618 (GRCm39)	R46L	probably benign	Het
Gper1	G	A	5: 139,412,029 (GRCm39)	D125N	possibly damaging	Het
Gpr146	A	G	5: 139,378,366 (GRCm39)	N56S	probably benign	Het
Grhpr	G	T	4: 44,981,465 (GRCm39)	R5L	probably benign	Het
Gstm6	A	T	3: 107,850,018 (GRCm39)	N59K	probably damaging	Het
Hdac7	A	T	15: 97,694,769 (GRCm39)	F802L	probably damaging	Het
Igfbpl1	A	T	4: 45,816,348 (GRCm39)	V159D	probably damaging	Het
Itga8	T	C	2: 12,237,668 (GRCm39)	S351G	possibly damaging	Het
Itgad	C	A	7: 127,785,146 (GRCm39)	H354Q	probably damaging	Het
Jmjd1c	T	C	10: 67,059,875 (GRCm39)	S641P	probably damaging	Het
Klhl33	T	C	14: 51,130,385 (GRCm39)	T110A	probably benign	Het
Lcorl	T	A	5: 45,890,968 (GRCm39)	K545*	probably null	Het
Lilra6	A	G	7: 3,914,628 (GRCm39)	S546P	probably damaging	Het
Ly6c1	T	A	15: 74,916,471 (GRCm39)	I124F	probably benign	Het
Map4	A	G	9: 109,897,847 (GRCm39)	T858A	probably benign	Het
Marchf5	G	T	19: 37,185,264 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,307,157 (GRCm39)	K769E		Het
Myh6	T	A	14: 55,200,992 (GRCm39)	I157F	probably damaging	Het
Naip1	A	G	13: 100,563,994 (GRCm39)	V389A	probably benign	Het
Or52b3	G	A	7: 102,204,397 (GRCm39)	R302H	possibly damaging	Het
Pcdhgc4	A	G	18: 37,949,640 (GRCm39)	H352R	probably benign	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pick1	T	C	15: 79,123,848 (GRCm39)	V73A	probably damaging	Het
Ppwd1	C	T	13: 104,342,080 (GRCm39)	V625I	probably benign	Het
Prss59	A	G	6: 40,905,473 (GRCm39)	V61A	probably damaging	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapb	A	G	2: 158,279,313 (GRCm39)	N445S	possibly damaging	Het
Rapgef6	G	T	11: 54,510,749 (GRCm39)	R222L	possibly damaging	Het
Rorc	A	T	3: 94,280,170 (GRCm39)		probably benign	Het
Rps6ka1	A	C	4: 133,594,432 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,725,757 (GRCm39)	Y1164C	probably benign	Het
Sema5a	T	A	15: 32,562,902 (GRCm39)	Y304*	probably null	Het
Slc26a4	A	T	12: 31,585,255 (GRCm39)	V513D	possibly damaging	Het
Slf2	T	A	19: 44,936,471 (GRCm39)	D705E	probably damaging	Het
Spag17	A	G	3: 99,934,905 (GRCm39)	T704A	probably benign	Het
Tex15	C	G	8: 34,063,344 (GRCm39)	Q925E	possibly damaging	Het
Trim38	A	T	13: 23,969,875 (GRCm39)	T145S	probably benign	Het
Trpm3	G	A	19: 22,425,696 (GRCm39)	C17Y	probably benign	Het
Usp42	A	G	5: 143,701,027 (GRCm39)	Y999H	probably benign	Het
Vat1	A	C	11: 101,351,441 (GRCm39)	M300R	probably benign	Het
Vmn1r85	T	A	7: 12,818,725 (GRCm39)	I140F	probably damaging	Het
Vmn2r57	T	C	7: 41,049,663 (GRCm39)	I695M	probably benign	Het
Wnk1	C	T	6: 119,942,660 (GRCm39)	R789Q	unknown	Het
Zswim5	G	A	4: 116,844,232 (GRCm39)	G1090D	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
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
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'- TGAGCTACAAGACTCCAGTTACTTG -3'
(R):5'- GGTGGAGACAAATGACCATCTG -3'

Sequencing Primer
(F):5'- GCTGCAGAGAAGACTTGA -3'
(R):5'- GCCAAAATGCTGGTAATTTTAGCC -3'

Posted On

2022-04-18