Incidental Mutation 'R6580:Ankrd49'
ID |
524090 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd49
|
Ensembl Gene |
ENSMUSG00000031931 |
Gene Name |
ankyrin repeat domain 49 |
Synonyms |
Gbif |
MMRRC Submission |
044704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R6580 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14690916-14695869 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14692694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 157
(S157P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034405]
[ENSMUST00000034406]
[ENSMUST00000115632]
[ENSMUST00000147305]
[ENSMUST00000214456]
[ENSMUST00000216037]
[ENSMUST00000216372]
[ENSMUST00000214979]
[ENSMUST00000215820]
|
AlphaFold |
Q8VE42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034405
|
SMART Domains |
Protein: ENSMUSP00000034405 Gene: ENSMUSG00000031928
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
13 |
249 |
6.3e-15 |
PFAM |
Mre11_DNA_bind
|
294 |
462 |
1.72e-70 |
SMART |
coiled coil region
|
487 |
519 |
N/A |
INTRINSIC |
low complexity region
|
566 |
594 |
N/A |
INTRINSIC |
low complexity region
|
683 |
699 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034406
AA Change: S157P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034406 Gene: ENSMUSG00000031931 AA Change: S157P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
ANK
|
72 |
102 |
1.02e3 |
SMART |
ANK
|
106 |
135 |
7.24e-7 |
SMART |
ANK
|
139 |
168 |
1.94e-7 |
SMART |
ANK
|
172 |
203 |
1.37e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115632
|
SMART Domains |
Protein: ENSMUSP00000111295 Gene: ENSMUSG00000031928
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
13 |
249 |
1.1e-31 |
PFAM |
Mre11_DNA_bind
|
294 |
435 |
7.6e-49 |
SMART |
coiled coil region
|
460 |
492 |
N/A |
INTRINSIC |
low complexity region
|
539 |
567 |
N/A |
INTRINSIC |
low complexity region
|
656 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147305
|
SMART Domains |
Protein: ENSMUSP00000116321 Gene: ENSMUSG00000031928
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
13 |
199 |
1.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214456
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214882
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216037
AA Change: S157P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216372
AA Change: S157P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215820
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
Other mutations in Ankrd49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Ankrd49
|
APN |
9 |
14,694,099 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01466:Ankrd49
|
APN |
9 |
14,692,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R1677:Ankrd49
|
UTSW |
9 |
14,692,674 (GRCm39) |
missense |
probably benign |
0.00 |
R4626:Ankrd49
|
UTSW |
9 |
14,693,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Ankrd49
|
UTSW |
9 |
14,692,510 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6931:Ankrd49
|
UTSW |
9 |
14,694,122 (GRCm39) |
missense |
probably benign |
0.12 |
R7125:Ankrd49
|
UTSW |
9 |
14,693,836 (GRCm39) |
frame shift |
probably null |
|
R7485:Ankrd49
|
UTSW |
9 |
14,693,837 (GRCm39) |
nonsense |
probably null |
|
R8342:Ankrd49
|
UTSW |
9 |
14,692,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Ankrd49
|
UTSW |
9 |
14,692,711 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Ankrd49
|
UTSW |
9 |
14,692,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCCTGGCGATATCAGAAG -3'
(R):5'- ATAGCTTGCTACAGTGCAGAG -3'
Sequencing Primer
(F):5'- CCTGGCGATATCAGAAGCAGTTTC -3'
(R):5'- TAGCTTGCTACAGTGCAGAGACTAC -3'
|
Posted On |
2018-06-22 |