Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00920:Cep78'

29501

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

IGL00920

Quality Score

Status

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15958850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047704]

AlphaFold

Q6IRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000047704
AA Change: I165V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: I165V

Domain	Start	End	E-Value	Type
LRR	152	179	2.95e-3	SMART
Blast:LRR	180	207	1e-10	BLAST
LRR	231	259	6.28e-1	SMART
LRR	260	287	8.81e-2	SMART
LRR	288	313	1.96e2	SMART
low complexity region	427	450	N/A	INTRINSIC
coiled coil region	462	511	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181731

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd209e	T	C	8: 3,899,187 (GRCm39)	D175G	probably damaging	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Dpp9	T	C	17: 56,507,599 (GRCm39)	T357A	probably benign	Het
Gm42416	T	A	18: 37,085,820 (GRCm39)	M1K	probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh5	A	T	12: 75,023,267 (GRCm39)	D600E	probably damaging	Het
Msantd5f1	T	A	4: 73,605,679 (GRCm39)		probably benign	Het
Ndst4	A	G	3: 125,231,860 (GRCm39)	D143G	probably damaging	Het
Nrros	A	G	16: 31,966,438 (GRCm39)	F14S	probably benign	Het
Or5g9	A	T	2: 85,552,583 (GRCm39)	Y278F	probably damaging	Het
Or8g2b	T	C	9: 39,751,230 (GRCm39)	F167L	probably benign	Het
Pcdh7	A	T	5: 57,877,473 (GRCm39)	I343F	probably damaging	Het
Piwil4	C	T	9: 14,638,733 (GRCm39)	R264H	probably damaging	Het
Pnpt1	A	G	11: 29,107,087 (GRCm39)		probably benign	Het
Pycr2	T	A	1: 180,733,958 (GRCm39)		probably benign	Het
Rfx7	T	A	9: 72,500,638 (GRCm39)	Y133N	probably damaging	Het
Slc17a3	A	G	13: 24,040,464 (GRCm39)	I263V	probably benign	Het
Spink5	A	T	18: 44,136,276 (GRCm39)	E562D	probably damaging	Het
Spty2d1	T	C	7: 46,648,735 (GRCm39)	R65G	probably damaging	Het
Thbs1	C	T	2: 117,943,682 (GRCm39)	T100I	probably damaging	Het
Triml1	T	C	8: 43,591,719 (GRCm39)	N213S	probably damaging	Het
Trp53bp2	T	C	1: 182,272,219 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,995,890 (GRCm39)	I253V	possibly damaging	Het
Zan	C	T	5: 137,462,786 (GRCm39)	V798I	unknown	Het
Zfp608	C	T	18: 55,022,903 (GRCm39)	M1504I	probably benign	Het

Other mutations in Cep78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Cep78	APN	19	15,946,504 (GRCm39)	missense	probably benign
IGL01548:Cep78	APN	19	15,958,564 (GRCm39)	splice site	probably benign
IGL01662:Cep78	APN	19	15,938,359 (GRCm39)	missense	probably damaging	1.00
IGL01933:Cep78	APN	19	15,933,304 (GRCm39)	missense	probably benign
IGL02014:Cep78	APN	19	15,962,102 (GRCm39)	missense	probably damaging	1.00
IGL02198:Cep78	APN	19	15,933,733 (GRCm39)	missense	probably damaging	1.00
IGL02331:Cep78	APN	19	15,951,779 (GRCm39)	missense	probably benign	0.16
IGL02431:Cep78	APN	19	15,936,943 (GRCm39)	missense	probably benign
IGL02731:Cep78	APN	19	15,933,670 (GRCm39)	missense	probably benign	0.02
IGL03268:Cep78	APN	19	15,951,806 (GRCm39)	nonsense	probably null
IGL03338:Cep78	APN	19	15,936,987 (GRCm39)	missense	probably damaging	0.97
himalayas	UTSW	19	15,946,492 (GRCm39)	missense	possibly damaging	0.66
R0426:Cep78	UTSW	19	15,948,334 (GRCm39)	nonsense	probably null
R0619:Cep78	UTSW	19	15,956,226 (GRCm39)	missense	probably damaging	0.99
R0659:Cep78	UTSW	19	15,933,554 (GRCm39)	missense	probably damaging	0.97
R1517:Cep78	UTSW	19	15,937,027 (GRCm39)	missense	probably damaging	1.00
R1758:Cep78	UTSW	19	15,936,900 (GRCm39)	missense	probably damaging	1.00
R1836:Cep78	UTSW	19	15,946,533 (GRCm39)	missense	probably damaging	1.00
R1865:Cep78	UTSW	19	15,933,368 (GRCm39)	missense	probably damaging	1.00
R1920:Cep78	UTSW	19	15,951,715 (GRCm39)	splice site	probably benign
R2483:Cep78	UTSW	19	15,938,344 (GRCm39)	missense	probably damaging	1.00
R2958:Cep78	UTSW	19	15,956,273 (GRCm39)	missense	probably damaging	1.00
R3814:Cep78	UTSW	19	15,959,166 (GRCm39)	critical splice acceptor site	probably null
R4133:Cep78	UTSW	19	15,946,519 (GRCm39)	missense	probably damaging	1.00
R4214:Cep78	UTSW	19	15,936,943 (GRCm39)	missense	probably benign
R5783:Cep78	UTSW	19	15,933,723 (GRCm39)	missense	probably benign	0.02
R5791:Cep78	UTSW	19	15,938,436 (GRCm39)	missense	probably benign	0.19
R5910:Cep78	UTSW	19	15,946,492 (GRCm39)	missense	possibly damaging	0.66
R5924:Cep78	UTSW	19	15,938,430 (GRCm39)	missense	probably damaging	1.00
R6148:Cep78	UTSW	19	15,959,150 (GRCm39)	nonsense	probably null
R6162:Cep78	UTSW	19	15,952,304 (GRCm39)	missense	probably benign	0.28
R6235:Cep78	UTSW	19	15,953,850 (GRCm39)	splice site	probably null
R6968:Cep78	UTSW	19	15,959,102 (GRCm39)	missense	probably benign	0.38
R7228:Cep78	UTSW	19	15,946,561 (GRCm39)	missense	probably benign	0.01
R7913:Cep78	UTSW	19	15,947,941 (GRCm39)	missense	probably benign
R7914:Cep78	UTSW	19	15,953,672 (GRCm39)	missense	probably benign	0.30
R7934:Cep78	UTSW	19	15,933,754 (GRCm39)	missense	probably damaging	0.96
R8059:Cep78	UTSW	19	15,958,876 (GRCm39)	missense	probably benign	0.02
R8146:Cep78	UTSW	19	15,933,727 (GRCm39)	missense	probably damaging	1.00
R8532:Cep78	UTSW	19	15,936,948 (GRCm39)	missense	possibly damaging	0.81
R9039:Cep78	UTSW	19	15,936,907 (GRCm39)	missense	probably benign	0.44
R9062:Cep78	UTSW	19	15,956,318 (GRCm39)	missense	probably benign	0.23
R9264:Cep78	UTSW	19	15,951,830 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17