Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Cep55'

547399

Institutional Source

Beutler Lab

Gene Symbol

Cep55

Ensembl Gene

ENSMUSG00000024989

Gene Name

centrosomal protein 55

Synonyms

1200008O12Rik, 2700032M20Rik

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38043459-38062871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38048539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 65 (V65D)

Ref Sequence

ENSEMBL: ENSMUSP00000112205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096096] [ENSMUST00000116506] [ENSMUST00000169673]

AlphaFold

Q8BT07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096096
AA Change: V65D

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: V65D

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
coiled coil region	98	150	N/A	INTRINSIC
Pfam:EABR	171	205	1.2e-22	PFAM
coiled coil region	229	395	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116506
AA Change: V65D

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: V65D

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
coiled coil region	98	150	N/A	INTRINSIC
Pfam:EABR	171	205	1.2e-22	PFAM
coiled coil region	229	371	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169673
AA Change: V65D

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: V65D

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
coiled coil region	98	150	N/A	INTRINSIC
Pfam:EABR	171	204	8.6e-22	PFAM
coiled coil region	229	395	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Cep55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cep55	APN	19	38,061,887 (GRCm39)	missense	probably damaging	1.00
IGL02359:Cep55	APN	19	38,058,316 (GRCm39)	missense	probably damaging	1.00
R0079:Cep55	UTSW	19	38,048,769 (GRCm39)	missense	probably benign	0.04
R0308:Cep55	UTSW	19	38,048,659 (GRCm39)	missense	possibly damaging	0.94
R0377:Cep55	UTSW	19	38,060,337 (GRCm39)	nonsense	probably null
R0725:Cep55	UTSW	19	38,048,622 (GRCm39)	missense	possibly damaging	0.48
R0736:Cep55	UTSW	19	38,061,765 (GRCm39)	missense	probably benign	0.21
R1842:Cep55	UTSW	19	38,046,348 (GRCm39)	missense	probably benign	0.09
R2196:Cep55	UTSW	19	38,057,558 (GRCm39)	missense	probably damaging	1.00
R2227:Cep55	UTSW	19	38,051,082 (GRCm39)	missense	probably benign	0.37
R3832:Cep55	UTSW	19	38,041,560 (GRCm39)	unclassified	probably benign
R4936:Cep55	UTSW	19	38,060,202 (GRCm39)	splice site	probably null
R4938:Cep55	UTSW	19	38,058,364 (GRCm39)	missense	probably damaging	1.00
R5246:Cep55	UTSW	19	38,058,119 (GRCm39)	missense	probably benign	0.39
R5628:Cep55	UTSW	19	38,058,396 (GRCm39)	nonsense	probably null
R5774:Cep55	UTSW	19	38,051,103 (GRCm39)	missense	probably damaging	1.00
R6708:Cep55	UTSW	19	38,048,709 (GRCm39)	missense	probably benign	0.23
R6787:Cep55	UTSW	19	38,046,374 (GRCm39)	missense	probably benign	0.01
R7187:Cep55	UTSW	19	38,048,806 (GRCm39)	critical splice donor site	probably null
R7473:Cep55	UTSW	19	38,058,384 (GRCm39)	missense	probably damaging	0.99
R7762:Cep55	UTSW	19	38,057,517 (GRCm39)	splice site	probably null
R7863:Cep55	UTSW	19	38,046,247 (GRCm39)	start gained	probably benign
R9030:Cep55	UTSW	19	38,059,592 (GRCm39)	critical splice donor site	probably null
R9555:Cep55	UTSW	19	38,059,592 (GRCm39)	critical splice donor site	probably null
X0023:Cep55	UTSW	19	38,060,315 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTACCGCCATTGATCCAG -3'
(R):5'- ATAGGGACTCCAGCAACTGC -3'

Sequencing Primer
(F):5'- TGTTAACTAGAACACAGATGGCGTTG -3'
(R):5'- AACTGCTGCTTCTTCTCACATTC -3'

Posted On

2019-05-13