Incidental Mutation 'R4682:Aurkc'
| ID |
350078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aurkc
|
| Ensembl Gene |
ENSMUSG00000070837 |
| Gene Name |
aurora kinase C |
| Synonyms |
IAK3, AIE1, Stk13, AIK3 |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6998346-7006090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6998538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 33
(V33M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086248]
[ENSMUST00000207660]
[ENSMUST00000207711]
[ENSMUST00000208049]
[ENSMUST00000208518]
|
| AlphaFold |
O88445 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086248
AA Change: V33M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000083426
Gene: ENSMUSG00000070837
AA Change: V33M
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
55 |
305 |
1.39e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208049
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208781
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele are viable but subfertile, as shown by reduced litter sizes or failure to produce a litter. Observed sperm abnormalities include heterogeneous chromatin condensation, loose acrosomes, and blunted heads. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
probably damaging |
Het |
|
| Other mutations in Aurkc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Aurkc
|
APN |
7 |
6,999,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00896:Aurkc
|
APN |
7 |
7,005,513 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0282:Aurkc
|
UTSW |
7 |
7,005,427 (GRCm39) |
splice site |
probably null |
|
|
R0615:Aurkc
|
UTSW |
7 |
7,005,402 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3498:Aurkc
|
UTSW |
7 |
7,003,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Aurkc
|
UTSW |
7 |
7,005,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Aurkc
|
UTSW |
7 |
7,005,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7592:Aurkc
|
UTSW |
7 |
7,003,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8483:Aurkc
|
UTSW |
7 |
6,999,664 (GRCm39) |
nonsense |
probably null |
|
|
R8933:Aurkc
|
UTSW |
7 |
7,005,796 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9003:Aurkc
|
UTSW |
7 |
6,999,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Aurkc
|
UTSW |
7 |
6,998,527 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Aurkc
|
UTSW |
7 |
6,998,513 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATCCTATAGGGCAAGCAG -3'
(R):5'- CTTGCAGGGATCTTTCTCATACG -3'
Sequencing Primer
(F):5'- AGCAGCCTGGCTTCTCTGTG -3'
(R):5'- ATACGTGCCACCACTTTGGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation