Mutagenetix > Incidental Mutation

Incidental Mutation 'R2196:Cep55'

238391

Institutional Source

Beutler Lab

Gene Symbol

Cep55

Ensembl Gene

ENSMUSG00000024989

Gene Name

centrosomal protein 55

Synonyms

1200008O12Rik, 2700032M20Rik

MMRRC Submission

040198-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38043459-38062871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38057558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 187 (Y187N)

Ref Sequence

ENSEMBL: ENSMUSP00000127961 (fasta)

Gene Model

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

AlphaFold

Q8BT07

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082712

Predicted Effect

probably damaging
Transcript: ENSMUST00000096096
AA Change: Y187N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: Y187N

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

probably damaging
Transcript: ENSMUST00000116506
AA Change: Y187N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: Y187N

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

probably damaging
Transcript: ENSMUST00000169673
AA Change: Y187N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: Y187N

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Acvr2a	A	T	2: 48,760,324 (GRCm39)	T27S	possibly damaging	Het
Ankhd1	T	A	18: 36,781,432 (GRCm39)	N2161K	probably damaging	Het
Apba3	A	G	10: 81,107,542 (GRCm39)	Y350C	probably damaging	Het
Bnipl	T	A	3: 95,157,181 (GRCm39)	R47S	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Cep112	G	A	11: 108,461,187 (GRCm39)	E329K	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Csad	T	C	15: 102,096,028 (GRCm39)	N142D	probably benign	Het
Dars1	A	T	1: 128,306,595 (GRCm39)	I195N	probably damaging	Het
Dmxl1	T	A	18: 50,050,698 (GRCm39)	L2454Q	probably benign	Het
Emc1	A	T	4: 139,093,841 (GRCm39)	E650D	probably benign	Het
Enam	A	G	5: 88,650,603 (GRCm39)	D704G	probably damaging	Het
Fat1	T	A	8: 45,477,683 (GRCm39)	I2220N	probably damaging	Het
Fat4	T	C	3: 39,035,566 (GRCm39)	S3073P	probably benign	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Gcsh	G	A	8: 117,715,909 (GRCm39)	T58M	possibly damaging	Het
Ghrhr	T	C	6: 55,356,726 (GRCm39)	Y108H	probably damaging	Het
Gm5431	A	T	11: 48,780,058 (GRCm39)	I566N	probably damaging	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Grin2c	G	T	11: 115,141,492 (GRCm39)	S875R	probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Krt87	T	C	15: 101,336,314 (GRCm39)	E113G	probably damaging	Het
Map4	A	G	9: 109,900,116 (GRCm39)	E934G	probably damaging	Het
Mkx	A	G	18: 7,000,675 (GRCm39)	L89P	probably damaging	Het
Myo15a	T	A	11: 60,400,847 (GRCm39)	Y2982*	probably null	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nom1	A	G	5: 29,641,019 (GRCm39)	D353G	probably benign	Het
Notch1	A	T	2: 26,353,816 (GRCm39)	L1937*	probably null	Het
Nrxn2	A	T	19: 6,540,139 (GRCm39)	D820V	probably damaging	Het
Nup210	A	T	6: 91,032,226 (GRCm39)	N47K	probably benign	Het
Or1j12	T	A	2: 36,342,600 (GRCm39)	M1K	probably null	Het
Or4p21	G	A	2: 88,277,054 (GRCm39)	T76I	probably benign	Het
Or6d14	A	T	6: 116,533,578 (GRCm39)	Q64L	probably damaging	Het
Pcolce2	A	T	9: 95,576,742 (GRCm39)	I338F	probably damaging	Het
Pkd1	T	C	17: 24,799,046 (GRCm39)	M2755T	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Rab3a	T	C	8: 71,209,872 (GRCm39)	S51P	probably benign	Het
Scn10a	G	A	9: 119,438,070 (GRCm39)	A1933V	probably benign	Het
Serpina1c	T	A	12: 103,862,370 (GRCm39)	Y315F	probably damaging	Het
Slc29a4	A	C	5: 142,698,650 (GRCm39)	I104L	possibly damaging	Het
Spag16	G	A	1: 69,897,681 (GRCm39)	V144I	possibly damaging	Het
Spata22	A	G	11: 73,236,660 (GRCm39)	K322R	probably benign	Het
Sult2a8	T	A	7: 14,161,778 (GRCm39)	I23L	probably benign	Het
Thoc1	T	A	18: 9,986,300 (GRCm39)	V344D	probably damaging	Het
Tnn	G	C	1: 159,924,798 (GRCm39)	Y1185*	probably null	Het
Trpc4	A	G	3: 54,209,614 (GRCm39)	I660V	probably benign	Het
Urb1	A	G	16: 90,571,144 (GRCm39)	Y1222H	probably benign	Het
Usp4	A	G	9: 108,250,885 (GRCm39)	E531G	probably benign	Het
Vmn2r93	C	T	17: 18,525,428 (GRCm39)	S362L	probably damaging	Het
Zfhx3	G	T	8: 109,526,885 (GRCm39)	E927D	probably damaging	Het
Zfp644	A	T	5: 106,786,469 (GRCm39)	M1K	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	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
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
R7047:Cep55	UTSW	19	38,048,539 (GRCm39)	missense	possibly damaging	0.65
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'- AGTTCTCTGGAAACTGACTGTC -3'
(R):5'- TCACTCCTGTTGGGAAATGTCAG -3'

Sequencing Primer
(F):5'- CTCTGGAAACTGACTGTCATGTATTC -3'
(R):5'- GGGAAATGTCAGGCTTATCCC -3'

Posted On

2014-10-02