Mutagenetix > Incidental Mutation

Incidental Mutation 'R0792:Cep68'

82467

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

6030463E10Rik

MMRRC Submission

038972-MU

Accession Numbers

Essential gene?

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

Stock #

R0792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20177037-20199424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20190652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 120 (L120H)

Ref Sequence

ENSEMBL: ENSMUSP00000125113 (fasta)

Gene Model

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

AlphaFold

Q8C0D9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050611
AA Change: L120H

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: L120H

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

possibly damaging
Transcript: ENSMUST00000109596
AA Change: L120H

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: L120H

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

possibly damaging
Transcript: ENSMUST00000162811
AA Change: L120H

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: L120H

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: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ahnak	G	T	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Ap3d1	A	T	10: 80,544,313 (GRCm39)	H1161Q	probably benign	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bdnf	G	A	2: 109,554,463 (GRCm39)	C239Y	probably damaging	Het
Bpifa5	G	T	2: 154,007,539 (GRCm39)		probably null	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Cpne1	G	T	2: 155,919,339 (GRCm39)	Q343K	probably benign	Het
Dlc1	A	T	8: 37,405,702 (GRCm39)	I29K	probably benign	Het
Dnah9	T	C	11: 65,786,827 (GRCm39)	D3602G	possibly damaging	Het
Dock1	A	G	7: 134,475,879 (GRCm39)	S885G	probably benign	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fmo6	C	T	1: 162,748,132 (GRCm39)	A311T	probably damaging	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	T	17: 34,461,588 (GRCm39)	T109I	probably damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Krt1c	A	G	15: 101,724,932 (GRCm39)	V226A	probably damaging	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Ltbp4	G	T	7: 27,024,485 (GRCm39)	P715Q	probably damaging	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Naip6	A	G	13: 100,420,274 (GRCm39)	I1332T	possibly damaging	Het
Ncstn	A	G	1: 171,899,072 (GRCm39)	V353A	possibly damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5ac21	A	T	16: 59,124,352 (GRCm39)	I280F	probably damaging	Het
Or5p81	A	G	7: 108,267,364 (GRCm39)	H247R	probably damaging	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Prr14l	A	G	5: 32,985,767 (GRCm39)	S1243P	probably damaging	Het
Prss1	T	C	6: 41,435,878 (GRCm39)	M1T	probably null	Het
Raver2	T	A	4: 100,960,147 (GRCm39)	V209D	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Slc16a13	A	T	11: 70,111,457 (GRCm39)	V16E	probably damaging	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Sobp	A	C	10: 42,898,689 (GRCm39)	S299A	probably damaging	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Ubox5	A	T	2: 130,442,630 (GRCm39)	V19E	probably damaging	Het
Vmn1r173	A	G	7: 23,402,160 (GRCm39)	T132A	probably benign	Het
Zfp267	A	G	3: 36,218,711 (GRCm39)	M244V	probably benign	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	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
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
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'- TTGGTGATCCTGAAGACTGCTGCC -3'
(R):5'- TGAAATCCCCTGAACGCTCTGCTC -3'

Sequencing Primer
(F):5'- AGATGCTTCTGCTAGAAAGCTG -3'
(R):5'- TTCAACACAGTGCCCTTTCC -3'

Posted On

2013-11-08