Incidental Mutation 'R2313:Ankrd53'
| ID |
245371 |
| 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 # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83739626-83745308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83740662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 95
(H95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006431]
[ENSMUST00000014891]
[ENSMUST00000206496]
|
| AlphaFold |
Q3V0J4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006431
|
| SMART Domains |
Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
44 |
110 |
1.9e-14 |
PFAM |
|
Pfam:ATP-synt_ab
|
167 |
393 |
9.4e-68 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
410 |
508 |
6.9e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014891
AA Change: H150L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: H150L
| 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 |
noncoding transcript
Transcript: ENSMUST00000189129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190077
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206496
AA Change: H95L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
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 |
|
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 |
|
R4550:Ankrd53
|
UTSW |
6 |
83,742,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTGTGAACACCTCCAAGGGAC -3'
(R):5'- GGAATCCTTGTCCTCACAACC -3'
Sequencing Primer
(F):5'- CTCCAAGGGACACAGGGAC -3'
(R):5'- CCCTCATCCTGTCCTGCAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation