Incidental Mutation 'IGL01445:Aunip'
| ID |
84381 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aunip
|
| Ensembl Gene |
ENSMUSG00000078521 |
| Gene Name |
aurora kinase A and ninein interacting protein |
| Synonyms |
2610002D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01445
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134238310-134251233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134250318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 88
(T88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102550]
[ENSMUST00000105866]
[ENSMUST00000116279]
[ENSMUST00000131613]
|
| AlphaFold |
E9Q6Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102550
|
| SMART Domains |
Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105866
AA Change: T88A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521
AA Change: T88A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIB
|
26 |
335 |
1.5e-134 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116279
|
| SMART Domains |
Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131613
|
| SMART Domains |
Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
201 |
2.3e-69 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(44) : Gene trapped(44)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,923,198 (GRCm39) |
I499M |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,356,126 (GRCm39) |
|
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,786,468 (GRCm39) |
D407G |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,189 (GRCm39) |
N47K |
possibly damaging |
Het |
| Cd177 |
G |
T |
7: 24,451,496 (GRCm39) |
T469N |
possibly damaging |
Het |
| Cep70 |
C |
T |
9: 99,180,553 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,693,489 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 47,169,947 (GRCm39) |
H1138Y |
probably benign |
Het |
| Coa5 |
G |
A |
1: 37,459,659 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,300,701 (GRCm39) |
T168A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,833,988 (GRCm39) |
T831A |
probably benign |
Het |
| Fbxo43 |
A |
G |
15: 36,151,972 (GRCm39) |
Y582H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,826,299 (GRCm39) |
V1602A |
probably benign |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
C |
T |
9: 40,012,608 (GRCm39) |
M59I |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,039 (GRCm39) |
Y103H |
probably damaging |
Het |
| Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
| Prom2 |
T |
C |
2: 127,381,433 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,757,970 (GRCm39) |
I170V |
possibly damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,141,504 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Tmem63a |
C |
T |
1: 180,774,196 (GRCm39) |
R18C |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,746,731 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tpsg1 |
C |
A |
17: 25,591,472 (GRCm39) |
S24* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,854 (GRCm39) |
M500V |
probably benign |
Het |
|
| Other mutations in Aunip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Aunip
|
APN |
4 |
134,250,722 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0019:Aunip
|
UTSW |
4 |
134,250,823 (GRCm39) |
nonsense |
probably null |
|
|
R0173:Aunip
|
UTSW |
4 |
134,250,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2064:Aunip
|
UTSW |
4 |
134,250,618 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3971:Aunip
|
UTSW |
4 |
134,250,780 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4809:Aunip
|
UTSW |
4 |
134,238,450 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5018:Aunip
|
UTSW |
4 |
134,250,928 (GRCm39) |
splice site |
probably null |
|
|
R8116:Aunip
|
UTSW |
4 |
134,250,618 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8672:Aunip
|
UTSW |
4 |
134,250,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation