Incidental Mutation 'R4549:Ankrd60'
| ID |
333887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd60
|
| Ensembl Gene |
ENSMUSG00000027517 |
| Gene Name |
ankyrin repeat domain 60 |
| Synonyms |
1700030G11Rik, 1700019A24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
173410451-173420066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173414395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 125
(T125S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109112]
[ENSMUST00000119453]
|
| AlphaFold |
A2AMD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109112
AA Change: T5S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517
AA Change: T5S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
73 |
102 |
2.83e0 |
SMART |
|
ANK
|
106 |
135 |
2.13e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119453
AA Change: T125S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517
AA Change: T125S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:UBQ
|
70 |
142 |
5e-39 |
BLAST |
|
ANK
|
193 |
222 |
2.83e0 |
SMART |
|
ANK
|
226 |
255 |
2.13e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147693
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
G |
A |
9: 59,217,511 (GRCm39) |
V175I |
probably damaging |
Het |
| Aldh7a1 |
A |
G |
18: 56,665,066 (GRCm39) |
V371A |
probably benign |
Het |
| Ap1m1 |
T |
A |
8: 72,994,064 (GRCm39) |
Y7N |
probably damaging |
Het |
| Carmil3 |
G |
A |
14: 55,743,121 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,819,972 (GRCm39) |
L5235H |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 131,179,775 (GRCm39) |
L124P |
probably damaging |
Het |
| Gnpda2 |
T |
A |
5: 69,743,872 (GRCm39) |
E54D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,143,579 (GRCm39) |
N95K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,486 (GRCm39) |
D2425G |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,554,734 (GRCm39) |
E2152K |
possibly damaging |
Het |
| Serpinb6e |
T |
A |
13: 34,017,214 (GRCm39) |
T269S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,758,906 (GRCm39) |
|
probably benign |
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 |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,067,292 (GRCm39) |
R49G |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,993,749 (GRCm39) |
F286L |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,649,221 (GRCm39) |
K656N |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,214,073 (GRCm39) |
V295A |
probably benign |
Het |
|
| Other mutations in Ankrd60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Ankrd60
|
APN |
2 |
173,412,996 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0060:Ankrd60
|
UTSW |
2 |
173,414,406 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0060:Ankrd60
|
UTSW |
2 |
173,414,406 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0569:Ankrd60
|
UTSW |
2 |
173,412,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0587:Ankrd60
|
UTSW |
2 |
173,410,644 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2941:Ankrd60
|
UTSW |
2 |
173,410,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Ankrd60
|
UTSW |
2 |
173,410,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5763:Ankrd60
|
UTSW |
2 |
173,419,882 (GRCm39) |
frame shift |
probably null |
|
|
R5786:Ankrd60
|
UTSW |
2 |
173,419,882 (GRCm39) |
frame shift |
probably null |
|
|
R5787:Ankrd60
|
UTSW |
2 |
173,419,882 (GRCm39) |
frame shift |
probably null |
|
|
R5788:Ankrd60
|
UTSW |
2 |
173,419,882 (GRCm39) |
frame shift |
probably null |
|
|
R7527:Ankrd60
|
UTSW |
2 |
173,419,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7618:Ankrd60
|
UTSW |
2 |
173,412,834 (GRCm39) |
splice site |
probably null |
|
|
R7756:Ankrd60
|
UTSW |
2 |
173,410,562 (GRCm39) |
makesense |
probably null |
|
|
R7758:Ankrd60
|
UTSW |
2 |
173,410,562 (GRCm39) |
makesense |
probably null |
|
|
R8039:Ankrd60
|
UTSW |
2 |
173,414,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9345:Ankrd60
|
UTSW |
2 |
173,410,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9573:Ankrd60
|
UTSW |
2 |
173,410,791 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9604:Ankrd60
|
UTSW |
2 |
173,412,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGCAGAAAGCTCTTCTTC -3'
(R):5'- ACCATCAAGGGAGAGACTTCC -3'
Sequencing Primer
(F):5'- AGTTTCACACTAAAGACTAAAGACTG -3'
(R):5'- AGGGAGAGACTTCCCCCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation