Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02014:Cep78'

183456

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: 0.785) question?

Stock #

IGL02014

Quality Score

Status

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15962102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 48 (D48G)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

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

AlphaFold

Q6IRU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047704
AA Change: D48G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: D48G

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	C	T	1: 54,696,779 (GRCm39)	G654S	possibly damaging	Het
Ark2c	A	T	18: 77,556,055 (GRCm39)	V167E	probably damaging	Het
Arl14ep	C	T	2: 106,797,458 (GRCm39)	A180T	probably benign	Het
Btbd9	A	C	17: 30,736,124 (GRCm39)	S330A	probably damaging	Het
Col4a4	C	T	1: 82,501,681 (GRCm39)		probably benign	Het
Ctdsp1	C	T	1: 74,433,175 (GRCm39)		probably benign	Het
Gapvd1	G	A	2: 34,594,203 (GRCm39)	P949L	probably damaging	Het
Gas6	T	C	8: 13,518,359 (GRCm39)	T492A	possibly damaging	Het
Igbp1b	A	T	6: 138,634,601 (GRCm39)	V281D	probably benign	Het
Mapk8ip3	G	A	17: 25,122,254 (GRCm39)		probably benign	Het
Met	T	C	6: 17,527,256 (GRCm39)		probably benign	Het
Mmachc	A	G	4: 116,560,907 (GRCm39)	F196S	probably damaging	Het
Or52z13	T	A	7: 103,246,937 (GRCm39)	I138N	probably damaging	Het
Pah	A	T	10: 87,417,789 (GRCm39)	T427S	probably benign	Het
Pcdh7	C	A	5: 57,877,045 (GRCm39)	P200Q	probably benign	Het
Pde3a	C	A	6: 141,404,870 (GRCm39)	P365Q	probably null	Het
Pkm	A	G	9: 59,576,244 (GRCm39)	T143A	possibly damaging	Het
Plppr4	A	G	3: 117,129,222 (GRCm39)	S82P	probably damaging	Het
Ryr3	T	C	2: 112,777,260 (GRCm39)	E299G	possibly damaging	Het
Sdk2	G	A	11: 113,729,320 (GRCm39)	P1086S	probably damaging	Het
Spats1	G	A	17: 45,772,166 (GRCm39)	R81C	probably benign	Het
Spmap2l	T	A	5: 77,195,002 (GRCm39)	F59I	probably damaging	Het
Tbc1d2	T	C	4: 46,649,778 (GRCm39)	N86S	possibly damaging	Het
Vezt	T	A	10: 93,832,811 (GRCm39)	Y10F	probably benign	Het
Vmn1r174	C	A	7: 23,453,583 (GRCm39)	P83H	probably damaging	Het
Vmn1r218	C	T	13: 23,321,001 (GRCm39)	T36I	probably damaging	Het
Zmym4	A	T	4: 126,794,462 (GRCm39)	N889K	possibly damaging	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
IGL00920:Cep78	APN	19	15,958,850 (GRCm39)	missense	probably benign	0.03
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
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

2014-05-07