Incidental Mutation 'R4003:Acte1'
| ID |
311346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acte1
|
| Ensembl Gene |
ENSMUSG00000031085 |
| Gene Name |
actin, epsilon 1 |
| Synonyms |
Gm498, LOC244239 |
| MMRRC Submission |
040945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4003 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143451040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 350
(M350L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134455]
[ENSMUST00000152910]
[ENSMUST00000179036]
[ENSMUST00000207235]
[ENSMUST00000207482]
[ENSMUST00000207630]
[ENSMUST00000207642]
[ENSMUST00000208761]
[ENSMUST00000208625]
[ENSMUST00000208153]
[ENSMUST00000208457]
[ENSMUST00000208038]
|
| AlphaFold |
D3YYH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152910
AA Change: M352L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: M352L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000207630
AA Change: M350L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208038
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,980,650 (GRCm39) |
I145N |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Bmp8b |
T |
A |
4: 123,015,671 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,259,138 (GRCm39) |
R33L |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,092,495 (GRCm39) |
E22G |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,720,977 (GRCm39) |
K2834E |
probably damaging |
Het |
| Eftud2 |
C |
T |
11: 102,750,936 (GRCm39) |
E286K |
possibly damaging |
Het |
| Elapor2 |
A |
C |
5: 9,490,877 (GRCm39) |
E629A |
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,755 (GRCm39) |
P439S |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,995 (GRCm39) |
K35E |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,778,844 (GRCm39) |
Q358H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,131,890 (GRCm39) |
D14G |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,899 (GRCm39) |
I1263T |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mylk |
C |
A |
16: 34,783,947 (GRCm39) |
A1371D |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,838,689 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,408,037 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,808,193 (GRCm39) |
M340K |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,034 (GRCm39) |
D1945G |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,337 (GRCm39) |
I376F |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,474 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,462,897 (GRCm39) |
V629A |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,693,988 (GRCm39) |
D633E |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,341,959 (GRCm39) |
V78M |
probably damaging |
Het |
| Tnfaip2 |
C |
T |
12: 111,417,778 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,058 (GRCm39) |
M333T |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,844,177 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,698,870 (GRCm39) |
C70* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,010,200 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,186,730 (GRCm39) |
E920G |
possibly damaging |
Het |
| Zhx3 |
G |
A |
2: 160,622,809 (GRCm39) |
P453S |
probably damaging |
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 |
|
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 |
|
|
R9220:Acte1
|
UTSW |
7 |
143,434,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- TGGACTAAAATTGTCAAACTCAGGC -3'
(R):5'- AGAGTCAGCCCTTGTTACAC -3'
Sequencing Primer
(F):5'- CAAACTCAGGCAGGTGTGTTTCC -3'
(R):5'- TTACTGTCCTTCAGGAGAAAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation