Incidental Mutation 'R8023:Acte1'
| ID |
617533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acte1
|
| Ensembl Gene |
ENSMUSG00000031085 |
| Gene Name |
actin, epsilon 1 |
| Synonyms |
Gm498, LOC244239 |
| MMRRC Submission |
067462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143445528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 192
(S192P)
|
| 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 damaging
Transcript: ENSMUST00000152910
AA Change: S192P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: S192P
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179036
AA Change: S194P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
AA Change: S194P
| 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 damaging
Transcript: ENSMUST00000207630
AA Change: S190P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,474,345 (GRCm39) |
V378E |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
| Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
| H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
| Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
| Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
| Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
| Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
| Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
| Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,171 (GRCm39) |
I311T |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,336,975 (GRCm39) |
R572Q |
probably benign |
Het |
| Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
| Tcn2 |
A |
T |
11: 3,877,579 (GRCm39) |
I23K |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,224 (GRCm39) |
D180G |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
| Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,073,106 (GRCm39) |
|
probably null |
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 |
|
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'- CTCACCAAGGCATGCTGTGTAC -3'
(R):5'- TATCCTCATAGGCAAGCCCC -3'
Sequencing Primer
(F):5'- GCTGTGTACCCCCACATCATAATG -3'
(R):5'- TTGAAACCCTGTCTCAAAAGAGATGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation