Incidental Mutation 'R1025:Acte1'
| ID |
94889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acte1
|
| Ensembl Gene |
ENSMUSG00000031085 |
| Gene Name |
actin, epsilon 1 |
| Synonyms |
Gm498, LOC244239 |
| MMRRC Submission |
039127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143450127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 291
(Y291C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134455]
[ENSMUST00000152910]
[ENSMUST00000179036]
[ENSMUST00000207235]
[ENSMUST00000207482]
[ENSMUST00000207630]
[ENSMUST00000208457]
[ENSMUST00000208038]
[ENSMUST00000208153]
[ENSMUST00000207642]
[ENSMUST00000208761]
[ENSMUST00000208625]
|
| AlphaFold |
D3YYH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134455
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152910
AA Change: Y293C
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: Y293C
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179036
AA Change: Y295C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
AA Change: Y295C
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
330 |
1.4e-81 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207482
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207630
AA Change: Y291C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208625
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
T |
17: 48,401,030 (GRCm39) |
K105M |
probably damaging |
Het |
| 3110009E18Rik |
C |
T |
1: 120,099,192 (GRCm39) |
T95I |
probably damaging |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,545,571 (GRCm39) |
A75T |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,792,826 (GRCm39) |
N434S |
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,871,057 (GRCm39) |
I300F |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,819,780 (GRCm39) |
S5171* |
probably null |
Het |
| Gabra2 |
T |
C |
5: 71,130,938 (GRCm39) |
S297G |
probably damaging |
Het |
| Irak3 |
A |
T |
10: 120,012,251 (GRCm39) |
I171N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,059,893 (GRCm39) |
I661V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,609 (GRCm39) |
D2384G |
probably damaging |
Het |
| Or14a260 |
T |
C |
7: 85,985,113 (GRCm39) |
M164V |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,445 (GRCm39) |
T11S |
probably benign |
Het |
| Pdcd6ip |
G |
A |
9: 113,491,354 (GRCm39) |
L630F |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,527,326 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
T |
G |
12: 31,578,736 (GRCm39) |
D639A |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,817 (GRCm39) |
C1754Y |
possibly damaging |
Het |
| Trpa1 |
C |
A |
1: 14,974,407 (GRCm39) |
M258I |
probably benign |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,240 (GRCm39) |
S42T |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,228 (GRCm39) |
F313L |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,017,618 (GRCm39) |
Y140H |
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 |
|
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 |
|
|
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'- GTCCACCGAACCTCAAGATTCCTG -3'
(R):5'- TGATGCCATGATGCCACCTTCTG -3'
Sequencing Primer
(F):5'- AACCTCAAGATTCCTGGTGGC -3'
(R):5'- ctctctctctctctctctctctc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation