Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Cep95'

177756

Institutional Source

Beutler Lab

Gene Symbol

Cep95

Ensembl Gene

ENSMUSG00000018372

Gene Name

centrosomal protein 95

Synonyms

F630025I20Rik, Ccdc45, 4732496G21Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106789252-106819930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106800104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 143 (R143L)

Ref Sequence

ENSEMBL: ENSMUSP00000099357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000103068]

AlphaFold

Q8BVV7

Predicted Effect

probably benign
Transcript: ENSMUST00000018516
AA Change: R143L

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

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: R143L

Domain	Start	End	E-Value	Type
low complexity region	389	407	N/A	INTRINSIC
coiled coil region	584	633	N/A	INTRINSIC
coiled coil region	701	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103068
AA Change: R143L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: R143L

Domain	Start	End	E-Value	Type
low complexity region	346	364	N/A	INTRINSIC
coiled coil region	541	590	N/A	INTRINSIC
coiled coil region	658	750	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441 (GRCm38)		probably benign	Het
Aadacl2	C	T	3: 60,010,576 (GRCm38)	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223 (GRCm38)	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563 (GRCm38)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517 (GRCm38)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948 (GRCm38)	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995 (GRCm38)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm38)	D172G	probably benign	Het
Bax	T	C	7: 45,465,247 (GRCm38)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859 (GRCm38)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266 (GRCm38)		probably benign	Het
Cand1	A	G	10: 119,213,566 (GRCm38)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478 (GRCm38)		probably null	Het
Cd248	C	T	19: 5,069,932 (GRCm38)	P603S	probably benign	Het
Clptm1l	G	T	13: 73,614,673 (GRCm38)		probably null	Het
Cntnap5a	T	C	1: 116,060,200 (GRCm38)	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990 (GRCm38)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461 (GRCm38)	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293 (GRCm38)	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860 (GRCm38)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612 (GRCm38)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176 (GRCm38)	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328 (GRCm38)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038 (GRCm38)	S248*	probably null	Het
Glul	A	T	1: 153,905,538 (GRCm38)		probably benign	Het
Gm28042	A	G	2: 120,041,406 (GRCm38)	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783 (GRCm38)	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967 (GRCm38)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911 (GRCm38)	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785 (GRCm38)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332 (GRCm38)	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itga9	T	C	9: 118,607,117 (GRCm38)		probably null	Het
Itgb1	T	A	8: 128,705,458 (GRCm38)	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459 (GRCm38)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100 (GRCm38)	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541 (GRCm38)		probably null	Het
Kif12	T	A	4: 63,166,500 (GRCm38)	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474 (GRCm38)	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072 (GRCm38)		probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950 (GRCm38)	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529 (GRCm38)	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632 (GRCm38)	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647 (GRCm38)	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524 (GRCm38)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176 (GRCm38)	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113 (GRCm38)	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977 (GRCm38)	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075 (GRCm38)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865 (GRCm38)	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757 (GRCm38)	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560 (GRCm38)	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196 (GRCm38)	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681 (GRCm38)	V199A	probably benign	Het
Omp	G	T	7: 98,145,359 (GRCm38)	D20E	probably benign	Het
Otog	A	G	7: 46,283,908 (GRCm38)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292 (GRCm38)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986 (GRCm38)	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792 (GRCm38)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529 (GRCm38)	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807 (GRCm38)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381 (GRCm38)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462 (GRCm38)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447 (GRCm38)	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637 (GRCm38)	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024 (GRCm38)	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015 (GRCm38)		probably null	Het
Tars	A	G	15: 11,388,175 (GRCm38)	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767 (GRCm38)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960 (GRCm38)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706 (GRCm38)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526 (GRCm38)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680 (GRCm38)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551 (GRCm38)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390 (GRCm38)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872 (GRCm38)	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961 (GRCm38)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776 (GRCm38)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520 (GRCm38)		probably benign	Het
Vmn2r81	C	A	10: 79,293,024 (GRCm38)	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972 (GRCm38)	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907 (GRCm38)		probably benign	Het
Zfhx4	A	C	3: 5,241,729 (GRCm38)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745 (GRCm38)		probably null	Het

Other mutations in Cep95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cep95	APN	11	106,818,217 (GRCm38)	missense	probably damaging	0.98
IGL00988:Cep95	APN	11	106,806,394 (GRCm38)	missense	probably benign	0.00
IGL01306:Cep95	APN	11	106,813,815 (GRCm38)	missense	probably benign	0.00
IGL01995:Cep95	APN	11	106,806,371 (GRCm38)	missense	probably damaging	1.00
IGL02541:Cep95	APN	11	106,815,581 (GRCm38)	missense	probably damaging	0.99
ANU23:Cep95	UTSW	11	106,813,815 (GRCm38)	missense	probably benign	0.00
R0071:Cep95	UTSW	11	106,790,728 (GRCm38)	unclassified	probably benign
R0071:Cep95	UTSW	11	106,790,728 (GRCm38)	unclassified	probably benign
R0255:Cep95	UTSW	11	106,811,271 (GRCm38)	missense	probably benign	0.10
R0427:Cep95	UTSW	11	106,790,752 (GRCm38)	missense	probably benign	0.18
R0436:Cep95	UTSW	11	106,818,685 (GRCm38)	missense	probably null	0.98
R0583:Cep95	UTSW	11	106,814,623 (GRCm38)	missense	probably benign
R0831:Cep95	UTSW	11	106,814,704 (GRCm38)	missense	probably benign	0.00
R1459:Cep95	UTSW	11	106,817,955 (GRCm38)	missense	probably damaging	1.00
R1627:Cep95	UTSW	11	106,809,705 (GRCm38)	missense	probably damaging	1.00
R1768:Cep95	UTSW	11	106,806,351 (GRCm38)	nonsense	probably null
R1914:Cep95	UTSW	11	106,814,638 (GRCm38)	missense	probably damaging	1.00
R1915:Cep95	UTSW	11	106,814,638 (GRCm38)	missense	probably damaging	1.00
R1928:Cep95	UTSW	11	106,790,728 (GRCm38)	unclassified	probably benign
R2495:Cep95	UTSW	11	106,809,282 (GRCm38)	missense	possibly damaging	0.73
R3157:Cep95	UTSW	11	106,809,187 (GRCm38)	splice site	probably benign
R3158:Cep95	UTSW	11	106,809,187 (GRCm38)	splice site	probably benign
R3712:Cep95	UTSW	11	106,811,286 (GRCm38)	nonsense	probably null
R3881:Cep95	UTSW	11	106,806,292 (GRCm38)	missense	probably damaging	0.98
R4739:Cep95	UTSW	11	106,815,734 (GRCm38)	missense	probably benign	0.34
R4908:Cep95	UTSW	11	106,811,346 (GRCm38)	missense	probably damaging	1.00
R4989:Cep95	UTSW	11	106,816,654 (GRCm38)	splice site	probably null
R5913:Cep95	UTSW	11	106,818,509 (GRCm38)	unclassified	probably benign
R5925:Cep95	UTSW	11	106,812,401 (GRCm38)	missense	probably benign	0.00
R6291:Cep95	UTSW	11	106,815,596 (GRCm38)	missense	probably damaging	1.00
R6540:Cep95	UTSW	11	106,801,502 (GRCm38)	missense	probably damaging	0.97
R6924:Cep95	UTSW	11	106,811,197 (GRCm38)	missense	probably damaging	0.99
R6985:Cep95	UTSW	11	106,818,703 (GRCm38)	missense	probably damaging	0.99
R7156:Cep95	UTSW	11	106,809,224 (GRCm38)	missense	possibly damaging	0.84
R7940:Cep95	UTSW	11	106,796,148 (GRCm38)	missense	probably benign
R8348:Cep95	UTSW	11	106,813,767 (GRCm38)	missense	possibly damaging	0.81
R8509:Cep95	UTSW	11	106,805,050 (GRCm38)	missense	probably benign	0.08
R8849:Cep95	UTSW	11	106,816,804 (GRCm38)	missense
R9284:Cep95	UTSW	11	106,813,798 (GRCm38)	missense	probably benign
R9532:Cep95	UTSW	11	106,796,216 (GRCm38)	missense	probably damaging	0.98
R9673:Cep95	UTSW	11	106,812,496 (GRCm38)	missense	probably benign	0.05
X0028:Cep95	UTSW	11	106,812,410 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAAGGGACTCATGGCAGGT -3'
(R):5'- GGAGTACCAGTATCCATCCGTCCA -3'

Sequencing Primer
(F):5'- ACTCATGGCAGGTGGTGG -3'
(R):5'- tggaaggcacaggcagg -3'

Posted On

2014-04-24