Incidental Mutation 'R0892:Ankub1'
| ID |
83526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankub1
|
| Ensembl Gene |
ENSMUSG00000074591 |
| Gene Name |
ankyrin repeat and ubiquitin domain containing 1 |
| Synonyms |
LOC242037, Gm410 |
| MMRRC Submission |
039055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
57574843-57599958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57597800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 57
(R57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099091]
[ENSMUST00000197088]
[ENSMUST00000200665]
|
| AlphaFold |
Q3UUE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099091
AA Change: R57G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: R57G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
78 |
3e-41 |
BLAST |
|
SCOP:d1euvb_
|
1 |
78 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197088
AA Change: R57G
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: R57G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
78 |
5e-40 |
BLAST |
|
ANK
|
191 |
220 |
6.7e-2 |
SMART |
|
Blast:ANK
|
239 |
268 |
5e-12 |
BLAST |
|
ANK
|
273 |
303 |
2.6e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200665
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
| Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
| Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
| Mapre2 |
A |
G |
18: 23,991,200 (GRCm39) |
N189S |
probably benign |
Het |
| Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,562,881 (GRCm39) |
V28D |
probably damaging |
Het |
| Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,429,033 (GRCm39) |
|
probably null |
Het |
| Sbsn |
A |
T |
7: 30,454,244 (GRCm39) |
Q50L |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,644,597 (GRCm39) |
L34P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ankub1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Ankub1
|
APN |
3 |
57,597,817 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03137:Ankub1
|
APN |
3 |
57,597,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Ankub1
|
UTSW |
3 |
57,597,796 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2073:Ankub1
|
UTSW |
3 |
57,599,713 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2104:Ankub1
|
UTSW |
3 |
57,580,296 (GRCm39) |
nonsense |
probably null |
|
|
R4869:Ankub1
|
UTSW |
3 |
57,597,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Ankub1
|
UTSW |
3 |
57,580,258 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6229:Ankub1
|
UTSW |
3 |
57,572,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6929:Ankub1
|
UTSW |
3 |
57,572,854 (GRCm39) |
nonsense |
probably null |
|
|
R7086:Ankub1
|
UTSW |
3 |
57,597,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7200:Ankub1
|
UTSW |
3 |
57,580,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7290:Ankub1
|
UTSW |
3 |
57,580,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Ankub1
|
UTSW |
3 |
57,599,938 (GRCm39) |
start gained |
probably benign |
|
|
R7336:Ankub1
|
UTSW |
3 |
57,573,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7407:Ankub1
|
UTSW |
3 |
57,572,624 (GRCm39) |
missense |
probably benign |
|
|
R7566:Ankub1
|
UTSW |
3 |
57,573,039 (GRCm39) |
nonsense |
probably null |
|
|
R7569:Ankub1
|
UTSW |
3 |
57,573,039 (GRCm39) |
nonsense |
probably null |
|
|
R7872:Ankub1
|
UTSW |
3 |
57,572,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Ankub1
|
UTSW |
3 |
57,597,837 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8734:Ankub1
|
UTSW |
3 |
57,599,706 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8774:Ankub1
|
UTSW |
3 |
57,597,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Ankub1
|
UTSW |
3 |
57,597,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Ankub1
|
UTSW |
3 |
57,572,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
|
| Posted On |
2013-11-08 |
Incidental Mutation