Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Cdca8'

98746

Institutional Source

Beutler Lab

Gene Symbol

Cdca8

Ensembl Gene

ENSMUSG00000028873

Gene Name

cell division cycle associated 8

Synonyms

D4Ertd421e, Borealin, DasraB, 4831429J16Rik

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124812258-124830710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124815798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 171 (S171R)

Ref Sequence

ENSEMBL: ENSMUSP00000081319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030690] [ENSMUST00000084296] [ENSMUST00000165281]

AlphaFold

Q8BHX3

Predicted Effect

probably benign
Transcript: ENSMUST00000030690
AA Change: S171R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
AA Change: S171R

Domain	Start	End	E-Value	Type
Pfam:Nbl1_Borealin_N	20	76	1.9e-20	PFAM
low complexity region	109	139	N/A	INTRINSIC
Pfam:Borealin	148	286	5.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084296
AA Change: S171R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: S171R

Domain	Start	End	E-Value	Type
Pfam:Nbl1_Borealin_N	19	77	2.7e-24	PFAM
low complexity region	109	139	N/A	INTRINSIC
Pfam:Borealin	173	286	2.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147074

Predicted Effect

probably benign
Transcript: ENSMUST00000149146

SMART Domains

Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876

Domain	Start	End	E-Value	Type
Pfam:Ephrin_lbd	1	66	2.2e-25	PFAM
low complexity region	74	87	N/A	INTRINSIC
FN3	193	290	6.54e-6	SMART
FN3	306	392	1.66e-7	SMART
Pfam:EphA2_TM	421	496	2.4e-15	PFAM
TyrKc	499	754	5.17e-90	SMART
SAM	784	851	1.2e-15	SMART
low complexity region	852	862	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165281

SMART Domains

Protein: ENSMUSP00000132145
Gene: ENSMUSG00000028873

Domain	Start	End	E-Value	Type
Pfam:Nbl1_Borealin_N	19	77	1.5e-25	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit early embryonic lethality due to mitotic defects associated with abnormal microtubule organization and mislocalization of the chromosomal passenger protein complex. Blastocysts fail to develop past E3.5 and undergo apoptosis by E5.5. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	Het

Other mutations in Cdca8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0024:Cdca8	UTSW	4	124,820,457 (GRCm39)	critical splice donor site	probably null
R0017:Cdca8	UTSW	4	124,814,168 (GRCm39)	missense	probably benign	0.15
R0017:Cdca8	UTSW	4	124,814,168 (GRCm39)	missense	probably benign	0.15
R0025:Cdca8	UTSW	4	124,815,047 (GRCm39)	missense	possibly damaging	0.90
R4689:Cdca8	UTSW	4	124,824,896 (GRCm39)	missense	probably damaging	1.00
R5077:Cdca8	UTSW	4	124,820,470 (GRCm39)	missense	probably damaging	1.00
R5597:Cdca8	UTSW	4	124,812,793 (GRCm39)	missense	probably damaging	1.00
R6319:Cdca8	UTSW	4	124,815,087 (GRCm39)	missense	possibly damaging	0.81
R6390:Cdca8	UTSW	4	124,830,168 (GRCm39)	missense	probably damaging	1.00
R7818:Cdca8	UTSW	4	124,820,456 (GRCm39)	critical splice donor site	probably null
R9100:Cdca8	UTSW	4	124,830,238 (GRCm39)	missense	probably benign	0.25
R9605:Cdca8	UTSW	4	124,830,384 (GRCm39)	missense	probably damaging	1.00
R9765:Cdca8	UTSW	4	124,814,122 (GRCm39)	missense	probably benign	0.11
X0026:Cdca8	UTSW	4	124,820,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTCCTTCAAGAGACATGCAGCC -3'
(R):5'- TGTGCTCAACTGGGACAAACCTTC -3'

Sequencing Primer
(F):5'- gttagagcacttcctgcttttcc -3'
(R):5'- ACTGGGACAAACCTTCTTAGGTTG -3'

Posted On

2014-01-09