Mutagenetix > Incidental Mutation

Incidental Mutation 'R7228:Cep78'

562320

Institutional Source

Beutler Lab

Gene Symbol

Cep78

Ensembl Gene

ENSMUSG00000041491

Gene Name

centrosomal protein 78

Synonyms

5730599I05Rik

MMRRC Submission

045300-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15933137-15962353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15946561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 424 (S424P)

Ref Sequence

ENSEMBL: ENSMUSP00000037596 (fasta)

Gene Model

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

AlphaFold

Q6IRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000047704
AA Change: S424P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: S424P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,653 (GRCm39)	F2467I	probably benign	Het
Acod1	A	G	14: 103,286,765 (GRCm39)	T23A	probably benign	Het
Adam2	T	A	14: 66,291,361 (GRCm39)	K306*	probably null	Het
Adcy10	A	C	1: 165,337,841 (GRCm39)	I152L	probably damaging	Het
Amigo1	T	C	3: 108,094,546 (GRCm39)	L15P	probably benign	Het
Aqp2	A	G	15: 99,480,005 (GRCm39)	N156S	probably benign	Het
AU041133	A	G	10: 81,987,105 (GRCm39)	K253E	possibly damaging	Het
Cacna1s	A	G	1: 135,998,797 (GRCm39)	T231A	possibly damaging	Het
Carf	A	T	1: 60,148,553 (GRCm39)	N83I	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,532 (GRCm39)	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,271,527 (GRCm39)	V1111M	possibly damaging	Het
Cfap74	G	A	4: 155,549,507 (GRCm39)	V123M	unknown	Het
Crot	T	A	5: 9,026,051 (GRCm39)	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,710,803 (GRCm39)	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,621,569 (GRCm39)	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,610,574 (GRCm39)	K80E	probably damaging	Het
Elp4	T	A	2: 105,622,647 (GRCm39)	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,554,012 (GRCm39)	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,822,651 (GRCm39)	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,899,087 (GRCm39)	T825A	probably benign	Het
Gm2042	A	G	12: 87,924,719 (GRCm39)	E60G	probably benign	Het
Gm26566	G	T	4: 88,640,542 (GRCm39)	R111L	unknown	Het
Gm3138	C	A	14: 15,632,269 (GRCm39)	H147Q	probably damaging	Het
Gucy1b1	T	A	3: 81,940,581 (GRCm39)	N615I	unknown	Het
Ighv14-1	A	T	12: 113,895,981 (GRCm39)	F8I	not run	Het
Kcnh8	C	T	17: 53,263,744 (GRCm39)	T747I	probably benign	Het
Kctd1	T	A	18: 15,195,469 (GRCm39)	S385C	possibly damaging	Het
Lmo7	T	A	14: 102,133,971 (GRCm39)	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027 (GRCm39)	K80N	probably damaging	Het
Map2k5	C	T	9: 63,265,304 (GRCm39)	D75N	probably damaging	Het
Matr3	T	C	18: 35,695,537 (GRCm39)	V4A	unknown	Het
Megf10	T	C	18: 57,322,661 (GRCm39)	C69R	probably damaging	Het
Mettl1	A	G	10: 126,881,152 (GRCm39)	E221G	probably benign	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mlh3	A	T	12: 85,282,430 (GRCm39)	L1401Q	probably benign	Het
Nacad	T	C	11: 6,548,412 (GRCm39)	I1412V	probably benign	Het
Nkain4	A	T	2: 180,596,362 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,044,633 (GRCm39)	C1518*	probably null	Het
Npw	A	G	17: 24,877,065 (GRCm39)	V112A	probably benign	Het
Or10a5	A	T	7: 106,636,307 (GRCm39)	H315L	probably benign	Het
Or2v1	T	A	11: 49,025,706 (GRCm39)	M229K	possibly damaging	Het
Pdzd2	T	C	15: 12,373,059 (GRCm39)	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,231 (GRCm39)	K37*	probably null	Het
Phkb	T	G	8: 86,569,636 (GRCm39)		probably benign	Het
Pou2af2	T	C	9: 51,202,956 (GRCm39)	D66G	probably damaging	Het
Prrc2b	C	A	2: 32,104,318 (GRCm39)	Y1265*	probably null	Het
Rab31	T	A	17: 66,024,548 (GRCm39)	M44L	probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Rapgef2	T	C	3: 78,976,525 (GRCm39)	D1279G	probably benign	Het
Rbm46	T	C	3: 82,749,840 (GRCm39)	D468G	probably benign	Het
Ryr3	T	C	2: 112,692,197 (GRCm39)	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,552,897 (GRCm39)	L221P	probably damaging	Het
Slit3	T	A	11: 35,490,245 (GRCm39)	V361E	probably damaging	Het
Soat1	G	A	1: 156,261,808 (GRCm39)	S400F	probably damaging	Het
Spp1	T	C	5: 104,588,311 (GRCm39)	S238P	probably damaging	Het
Tdpoz8	T	A	3: 92,980,993 (GRCm39)	C4S	possibly damaging	Het
Tfap2c	T	C	2: 172,393,492 (GRCm39)	S136P	probably benign	Het
Tgfbr2	T	C	9: 115,939,011 (GRCm39)	E297G	probably damaging	Het
Trim2	T	C	3: 84,099,488 (GRCm39)	D228G	probably benign	Het
Wdr82	C	A	9: 106,053,871 (GRCm39)	A74E	probably benign	Het
Zfp451	T	C	1: 33,842,475 (GRCm39)	T136A	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGCCCAGAAGCAACTATACTTTG -3'
(R):5'- AACAGGAATCAGCCATGCG -3'

Sequencing Primer
(F):5'- GCAACTATACTTTGTAATGGTCTCGG -3'
(R):5'- AATCAGCCATGCGGAGTGC -3'

Posted On

2019-06-26