Incidental Mutation 'R5705:Aurkb'
| ID |
451939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aurkb
|
| Ensembl Gene |
ENSMUSG00000020897 |
| Gene Name |
aurora kinase B |
| Synonyms |
Stk5, IPL1, STK-1, AIRK2, aurora B, Aik2, Stk12 |
| MMRRC Submission |
043330-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5705 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68936473-68942490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68939641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 213
(L213I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021277]
[ENSMUST00000108666]
|
| AlphaFold |
O70126 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021277
AA Change: L213I
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021277
Gene: ENSMUSG00000020897
AA Change: L213I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
82 |
332 |
2.75e-94 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108666
AA Change: L213I
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104306
Gene: ENSMUSG00000020897
AA Change: L213I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
82 |
332 |
2.75e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156373
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 2 and 7. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. [provided by RefSeq, Sep 2015]
PHENOTYPE: Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
| Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
| Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
| Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
| Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
| Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
| Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
| Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
| Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
| Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
| Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
| Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
| Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
Het |
|
| Other mutations in Aurkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Aurkb
|
APN |
11 |
68,939,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Aurkb
|
UTSW |
11 |
68,939,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Aurkb
|
UTSW |
11 |
68,936,822 (GRCm39) |
nonsense |
probably null |
|
|
R4622:Aurkb
|
UTSW |
11 |
68,939,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Aurkb
|
UTSW |
11 |
68,939,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4933:Aurkb
|
UTSW |
11 |
68,938,970 (GRCm39) |
intron |
probably benign |
|
|
R5243:Aurkb
|
UTSW |
11 |
68,936,752 (GRCm39) |
splice site |
probably benign |
|
|
R6457:Aurkb
|
UTSW |
11 |
68,939,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6604:Aurkb
|
UTSW |
11 |
68,939,388 (GRCm39) |
nonsense |
probably null |
|
|
R7739:Aurkb
|
UTSW |
11 |
68,939,058 (GRCm39) |
nonsense |
probably null |
|
|
R8461:Aurkb
|
UTSW |
11 |
68,941,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9289:Aurkb
|
UTSW |
11 |
68,941,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGAGTCGGACCTTCGATG -3'
(R):5'- ATCACTATGTCTATACTGCAAGGAG -3'
Sequencing Primer
(F):5'- AGTCGGACCTTCGATGAGCAG -3'
(R):5'- TCCTGAGGAACAAGACAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation