Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Cep68'

376999

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20227037-20249429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20239239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 591 (T591M)

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: T591M

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: T591M

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: T591M

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: T591M

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: T591M

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: T591M

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113	R333*	probably null	Het
Brca2	T	A	5: 150,556,937	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832	C267Y	probably benign	Het
Chil4	T	C	3: 106,204,144	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758		probably null	Het
Ednrb	T	C	14: 103,820,011	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071		probably benign	Het
Gm884	T	C	11: 103,614,872	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Herc3	T	C	6: 58,887,499	V706A	probably damaging	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409		probably benign	Het
Ms4a2	A	G	19: 11,618,429	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434	C1270*	probably null	Het
Ncoa5	A	G	2: 165,002,150	L111P	probably damaging	Het
Nup107	T	C	10: 117,770,478	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328	C76S	probably damaging	Het
Plk1	T	C	7: 122,168,605	V411A	probably damaging	Het
Pole	C	T	5: 110,324,753	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831	G935V	probably damaging	Het
Srgap3	A	G	6: 112,746,934	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,809,100	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,071,002	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776	C394Y	possibly damaging	Het

Other mutations in Cep68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Cep68	APN	11	20239510	missense	probably benign	0.14
IGL02404:Cep68	APN	11	20240004	missense	possibly damaging	0.89
IGL02441:Cep68	APN	11	20239186	missense	probably benign	0.01
IGL02554:Cep68	APN	11	20240096	missense	possibly damaging	0.61
IGL02732:Cep68	APN	11	20236109	unclassified	probably benign
PIT4366001:Cep68	UTSW	11	20240007	missense	probably benign	0.21
PIT4418001:Cep68	UTSW	11	20239731	missense	probably benign
R0399:Cep68	UTSW	11	20230571	missense	probably benign	0.10
R0792:Cep68	UTSW	11	20240652	missense	possibly damaging	0.76
R0882:Cep68	UTSW	11	20239393	missense	probably benign
R1163:Cep68	UTSW	11	20240539	missense	probably damaging	0.99
R1869:Cep68	UTSW	11	20240217	missense	probably damaging	1.00
R2023:Cep68	UTSW	11	20239888	missense	probably benign
R2901:Cep68	UTSW	11	20240187	missense	probably damaging	0.99
R2902:Cep68	UTSW	11	20240187	missense	probably damaging	0.99
R4292:Cep68	UTSW	11	20240079	missense	probably damaging	0.99
R4393:Cep68	UTSW	11	20238544	missense	probably benign	0.01
R4557:Cep68	UTSW	11	20239113	intron	probably benign
R4581:Cep68	UTSW	11	20239333	missense	probably benign	0.02
R4647:Cep68	UTSW	11	20239349	missense	probably benign	0.00
R5081:Cep68	UTSW	11	20238477	missense	probably damaging	0.98
R5658:Cep68	UTSW	11	20241885	critical splice donor site	probably null
R6380:Cep68	UTSW	11	20230498	missense	probably benign
R7444:Cep68	UTSW	11	20239438	missense	probably benign	0.01
R7455:Cep68	UTSW	11	20230571	missense	probably damaging	0.99
R7486:Cep68	UTSW	11	20242166	missense	probably benign	0.05
R8075:Cep68	UTSW	11	20239335	missense	probably benign	0.01
R8388:Cep68	UTSW	11	20230582	missense	probably damaging	1.00
R8407:Cep68	UTSW	11	20240446	missense	possibly damaging	0.62
R8501:Cep68	UTSW	11	20239132	missense	unknown
R8830:Cep68	UTSW	11	20230418	unclassified	probably benign
R8980:Cep68	UTSW	11	20240390	missense	probably benign
R9354:Cep68	UTSW	11	20238569	missense	probably damaging	1.00
R9534:Cep68	UTSW	11	20240686	missense	probably benign	0.00
R9597:Cep68	UTSW	11	20238506	missense	probably benign	0.00
R9780:Cep68	UTSW	11	20242142	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GGATCAGCCTCTACCAAAGC -3'
(R):5'- TTCAGGCATTCTATCCAGCC -3'

Sequencing Primer
(F):5'- GAACACTGCTGCTGCGTTAC -3'
(R):5'- ATTCTATCCAGCCCCAGGACTCTAG -3'

Posted On

2016-03-17