Incidental Mutation 'R9220:Acte1'
| ID |
699404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acte1
|
| Ensembl Gene |
ENSMUSG00000031085 |
| Gene Name |
actin, epsilon 1 |
| Synonyms |
Gm498, LOC244239 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R9220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 143434902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134455]
[ENSMUST00000152910]
[ENSMUST00000179036]
[ENSMUST00000207235]
[ENSMUST00000207482]
[ENSMUST00000207630]
[ENSMUST00000207642]
[ENSMUST00000208038]
[ENSMUST00000208153]
[ENSMUST00000208457]
[ENSMUST00000208625]
[ENSMUST00000208761]
|
| AlphaFold |
D3YYH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134455
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152910
|
| SMART Domains |
Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179036
|
| SMART Domains |
Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
330 |
1.4e-81 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207482
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208761
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
| Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
| B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
| Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,626,457 (GRCm39) |
T384S |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
| Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
| Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
| Fsd1l |
A |
T |
4: 53,679,799 (GRCm39) |
K166* |
probably null |
Het |
| Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
| Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
| Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
| Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
| Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,805 (GRCm39) |
S1231P |
|
Het |
| Plekhg3 |
T |
A |
12: 76,618,839 (GRCm39) |
M497K |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
| Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
| Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
| Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
| Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,398,801 (GRCm39) |
S636G |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
| Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
| Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
| Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
| Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
probably benign |
Het |
|
| Other mutations in Acte1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02202:Acte1
|
APN |
7 |
143,447,910 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0128:Acte1
|
UTSW |
7 |
143,445,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Acte1
|
UTSW |
7 |
143,447,956 (GRCm39) |
splice site |
probably benign |
|
|
R0726:Acte1
|
UTSW |
7 |
143,425,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1025:Acte1
|
UTSW |
7 |
143,450,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2879:Acte1
|
UTSW |
7 |
143,447,800 (GRCm39) |
nonsense |
probably null |
|
|
R2925:Acte1
|
UTSW |
7 |
143,437,736 (GRCm39) |
nonsense |
probably null |
|
|
R3625:Acte1
|
UTSW |
7 |
143,425,591 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4003:Acte1
|
UTSW |
7 |
143,451,040 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4184:Acte1
|
UTSW |
7 |
143,447,858 (GRCm39) |
nonsense |
probably null |
|
|
R4205:Acte1
|
UTSW |
7 |
143,422,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6179:Acte1
|
UTSW |
7 |
143,425,524 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7170:Acte1
|
UTSW |
7 |
143,450,102 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8023:Acte1
|
UTSW |
7 |
143,445,528 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8109:Acte1
|
UTSW |
7 |
143,451,203 (GRCm39) |
splice site |
probably null |
|
|
R8120:Acte1
|
UTSW |
7 |
143,425,524 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8309:Acte1
|
UTSW |
7 |
143,437,680 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8516:Acte1
|
UTSW |
7 |
143,451,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8748:Acte1
|
UTSW |
7 |
143,445,556 (GRCm39) |
missense |
probably benign |
|
|
R8944:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8964:Acte1
|
UTSW |
7 |
143,423,030 (GRCm39) |
missense |
probably benign |
|
|
R9221:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9222:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9303:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9304:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9306:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9307:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9308:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9428:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9429:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9457:Acte1
|
UTSW |
7 |
143,437,713 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9596:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGATAGGTGGCAGGTGT -3'
(R):5'- TCAGGTTGGAACAGAACAGG -3'
Sequencing Primer
(F):5'- GGTGGTAGATTTTACACAAGCACAC -3'
(R):5'- GTTGGAACAGAACAGGATCCTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation