Incidental Mutation 'R6319:Cdca8'
| ID |
509329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca8
|
| Ensembl Gene |
ENSMUSG00000028873 |
| Gene Name |
cell division cycle associated 8 |
| Synonyms |
D4Ertd421e, Borealin, DasraB, 4831429J16Rik |
| MMRRC Submission |
044474-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124812258-124830710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124815087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 177
(D177Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030690]
[ENSMUST00000084296]
|
| AlphaFold |
Q8BHX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030690
AA Change: D177Y
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
AA Change: D177Y
| 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 |
possibly damaging
Transcript: ENSMUST00000084296
AA Change: D177Y
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: D177Y
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
| Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
| Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
| Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
| Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
| Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
| Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
| Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
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 |
|
R1024:Cdca8
|
UTSW |
4 |
124,815,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGTTCCAACAGTGACCTCAGC -3'
(R):5'- GTGTGATCACAGGGAAGTTCTTAC -3'
Sequencing Primer
(F):5'- AACAGTGACCTCAGCTGTGCTC -3'
(R):5'- CTTACGAGCATGAACTTCTGCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation