Incidental Mutation 'R0575:Anapc11'
| ID |
56193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc11
|
| Ensembl Gene |
ENSMUSG00000025135 |
| Gene Name |
anaphase promoting complex subunit 11 |
| Synonyms |
1110011I19Rik |
| MMRRC Submission |
038765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
R0575 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120489247-120499024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120490192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 36
(D36G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026125]
[ENSMUST00000026128]
[ENSMUST00000093140]
|
| AlphaFold |
Q9CPX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026125
|
| SMART Domains |
Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
RRM
|
106 |
178 |
7.64e-20 |
SMART |
|
FoP_duplication
|
187 |
255 |
1.33e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026128
AA Change: D36G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135
AA Change: D36G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093140
AA Change: D36G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097714
Gene: ENSMUSG00000025135
AA Change: D36G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156685
|
| Meta Mutation Damage Score |
0.3930 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
| Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
| Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
| Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
| Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
| Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
| Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
| Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
| Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
| Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
| Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
| Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
Het |
|
| Other mutations in Anapc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01656:Anapc11
|
APN |
11 |
120,490,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02689:Anapc11
|
APN |
11 |
120,490,168 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02738:Anapc11
|
APN |
11 |
120,490,102 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0373:Anapc11
|
UTSW |
11 |
120,496,203 (GRCm39) |
missense |
probably benign |
|
|
R8167:Anapc11
|
UTSW |
11 |
120,490,112 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9480:Anapc11
|
UTSW |
11 |
120,496,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Anapc11
|
UTSW |
11 |
120,496,250 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGTACTAACTCCAGGTCATCCTC -3'
(R):5'- GCAACCAATGTCTGAACTTCAATTTGCT -3'
Sequencing Primer
(F):5'- CTTCCCTCAGGTCACAGGC -3'
(R):5'- ttcacttgcctctgcctc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation