Incidental Mutation 'R4550:Ankrd53'
| ID |
333914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd53
|
| Ensembl Gene |
ENSMUSG00000014747 |
| Gene Name |
ankyrin repeat domain 53 |
| Synonyms |
4930564N15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4550 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83739626-83745308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83742242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 153
(V153A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014891]
[ENSMUST00000014892]
[ENSMUST00000206496]
|
| AlphaFold |
Q3V0J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014891
AA Change: V208A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: V208A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
ANK
|
110 |
140 |
1.15e0 |
SMART |
|
ANK
|
144 |
177 |
1.63e0 |
SMART |
|
ANK
|
181 |
210 |
1.78e-6 |
SMART |
|
Blast:ANK
|
215 |
243 |
6e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014892
|
| SMART Domains |
Protein: ENSMUSP00000014892
Gene: ENSMUSG00000014748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Erv26
|
1 |
186 |
6.2e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190077
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206496
AA Change: V153A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ext1 |
A |
G |
15: 52,965,182 (GRCm39) |
S395P |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,483 (GRCm39) |
K914R |
probably benign |
Het |
| Gm128 |
T |
C |
3: 95,147,472 (GRCm39) |
D274G |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kmt2c |
G |
C |
5: 25,505,172 (GRCm39) |
R3379G |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,283,857 (GRCm39) |
S675G |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,529,082 (GRCm39) |
F704S |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,798,160 (GRCm39) |
T961A |
probably benign |
Het |
| Serpina11 |
A |
G |
12: 103,949,154 (GRCm39) |
F341S |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
| Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,617 (GRCm39) |
R686G |
unknown |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
|
| Other mutations in Ankrd53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01875:Ankrd53
|
APN |
6 |
83,740,031 (GRCm39) |
nonsense |
probably null |
|
|
IGL03186:Ankrd53
|
APN |
6 |
83,740,695 (GRCm39) |
missense |
probably benign |
0.15 |
|
PIT4651001:Ankrd53
|
UTSW |
6 |
83,742,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Ankrd53
|
UTSW |
6 |
83,740,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Ankrd53
|
UTSW |
6 |
83,740,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Ankrd53
|
UTSW |
6 |
83,740,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Ankrd53
|
UTSW |
6 |
83,740,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Ankrd53
|
UTSW |
6 |
83,740,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3623:Ankrd53
|
UTSW |
6 |
83,740,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3624:Ankrd53
|
UTSW |
6 |
83,740,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4836:Ankrd53
|
UTSW |
6 |
83,745,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Ankrd53
|
UTSW |
6 |
83,739,639 (GRCm39) |
unclassified |
probably benign |
|
|
R6875:Ankrd53
|
UTSW |
6 |
83,745,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Ankrd53
|
UTSW |
6 |
83,739,893 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7293:Ankrd53
|
UTSW |
6 |
83,740,178 (GRCm39) |
missense |
probably null |
1.00 |
|
R7955:Ankrd53
|
UTSW |
6 |
83,744,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9641:Ankrd53
|
UTSW |
6 |
83,740,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Ankrd53
|
UTSW |
6 |
83,742,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTATGAACAGGGTCCTC -3'
(R):5'- ACTTTACTCAACTGACACCTGC -3'
Sequencing Primer
(F):5'- ATGAACAGGGTCCTCCATGGTG -3'
(R):5'- AACTGACACCTGCCTTCTTCAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation