Incidental Mutation 'R0030:Ankrd65'
| ID |
64517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd65
|
| Ensembl Gene |
ENSMUSG00000078487 |
| Gene Name |
ankyrin repeat domain 65 |
| Synonyms |
E230028L10Rik |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155875432-155884132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 155875942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 72
(R72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105593]
[ENSMUST00000165000]
|
| AlphaFold |
F6YK91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105593
AA Change: R54S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101218
Gene: ENSMUSG00000078487
AA Change: R54S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
32 |
61 |
2.32e2 |
SMART |
|
ANK
|
65 |
94 |
1.31e-4 |
SMART |
|
ANK
|
98 |
127 |
2.16e-5 |
SMART |
|
ANK
|
165 |
195 |
2.47e0 |
SMART |
|
low complexity region
|
205 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165000
AA Change: R72S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129173
Gene: ENSMUSG00000078487
AA Change: R72S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
50 |
79 |
2.32e2 |
SMART |
|
ANK
|
83 |
112 |
1.31e-4 |
SMART |
|
ANK
|
116 |
145 |
2.16e-5 |
SMART |
|
Blast:ANK
|
149 |
178 |
4e-6 |
BLAST |
|
ANK
|
183 |
213 |
2.47e0 |
SMART |
|
low complexity region
|
223 |
233 |
N/A |
INTRINSIC |
|
ANK
|
243 |
272 |
2.15e0 |
SMART |
|
ANK
|
276 |
305 |
8.99e-3 |
SMART |
|
ANK
|
309 |
338 |
6.76e-7 |
SMART |
|
ANK
|
342 |
371 |
9.93e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185136
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,816,466 (GRCm39) |
Y755* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Ank1 |
C |
A |
8: 23,583,909 (GRCm39) |
D337E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,947 (GRCm39) |
S462P |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,914 (GRCm39) |
R132G |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,296,034 (GRCm39) |
C480* |
probably null |
Het |
| Gak |
C |
T |
5: 108,761,413 (GRCm39) |
W206* |
probably null |
Het |
| Ggt7 |
G |
T |
2: 155,348,408 (GRCm39) |
D5E |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,400,651 (GRCm39) |
G339* |
probably null |
Het |
| Ikzf3 |
T |
C |
11: 98,358,438 (GRCm39) |
T300A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,867 (GRCm39) |
M261K |
possibly damaging |
Het |
| Pax1 |
C |
A |
2: 147,210,502 (GRCm39) |
F412L |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,101,876 (GRCm39) |
I1006N |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,387,605 (GRCm39) |
V51A |
possibly damaging |
Het |
| Scn10a |
G |
C |
9: 119,499,056 (GRCm39) |
T304R |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
G |
T |
4: 139,154,104 (GRCm39) |
V2104L |
probably damaging |
Het |
|
| Other mutations in Ankrd65 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02145:Ankrd65
|
APN |
4 |
155,875,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0492:Ankrd65
|
UTSW |
4 |
155,875,133 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Ankrd65
|
UTSW |
4 |
155,877,362 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1468:Ankrd65
|
UTSW |
4 |
155,877,362 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1660:Ankrd65
|
UTSW |
4 |
155,876,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2120:Ankrd65
|
UTSW |
4 |
155,876,530 (GRCm39) |
missense |
probably benign |
|
|
R2516:Ankrd65
|
UTSW |
4 |
155,875,868 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4781:Ankrd65
|
UTSW |
4 |
155,877,493 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6790:Ankrd65
|
UTSW |
4 |
155,877,260 (GRCm39) |
splice site |
probably null |
|
|
R7806:Ankrd65
|
UTSW |
4 |
155,877,437 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9171:Ankrd65
|
UTSW |
4 |
155,875,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9773:Ankrd65
|
UTSW |
4 |
155,877,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATGGTGACAAGGGACACCTG -3'
(R):5'- ACGTCGCAGCAATAGTTCTGCC -3'
Sequencing Primer
(F):5'- CCTGGTAAGGTGAACCAGC -3'
(R):5'- AGCAATAGTTCTGCCACGTTTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation