Incidental Mutation 'R4205:Acte1'
| ID |
318874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acte1
|
| Ensembl Gene |
ENSMUSG00000031085 |
| Gene Name |
actin, epsilon 1 |
| Synonyms |
Gm498, LOC244239 |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 143422964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 17
(V17L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134455]
[ENSMUST00000152910]
[ENSMUST00000179036]
[ENSMUST00000207235]
[ENSMUST00000207482]
[ENSMUST00000207630]
[ENSMUST00000208625]
[ENSMUST00000208038]
[ENSMUST00000208761]
[ENSMUST00000207642]
[ENSMUST00000208153]
[ENSMUST00000208457]
|
| AlphaFold |
D3YYH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134455
AA Change: V17L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152910
AA Change: V17L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: V17L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179036
AA Change: V19L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
AA Change: V19L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
330 |
1.4e-81 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207235
AA Change: V17L
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207388
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207482
AA Change: V17L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207630
AA Change: V17L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208625
AA Change: V17L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208038
AA Change: V17L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208761
AA Change: V17L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207642
AA Change: V17L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208153
AA Change: V17L
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208457
AA Change: V17L
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
|
|
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'- GCATGGAGCTGTTTGAAGC -3'
(R):5'- TAAGGCCACCTTCTTGAGCC -3'
Sequencing Primer
(F):5'- TTCCTGAACAGCACCTACAGAGTG -3'
(R):5'- CCTTCTTGAGCCATTTGACAGGAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation