Incidental Mutation 'R8748:Acte1'
ID |
663650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acte1
|
Ensembl Gene |
ENSMUSG00000031085 |
Gene Name |
actin, epsilon 1 |
Synonyms |
Gm498, LOC244239 |
MMRRC Submission |
068591-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R8748 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143445556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 201
(I201T)
|
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 benign
Transcript: ENSMUST00000152910
AA Change: I201T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115809 Gene: ENSMUSG00000031085 AA Change: I201T
Domain | Start | End | E-Value | Type |
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179036
AA Change: I203T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137404 Gene: ENSMUSG00000031085 AA Change: I203T
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: I199T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,836,597 (GRCm39) |
F1233I |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,532,026 (GRCm39) |
I87T |
|
Het |
Atr |
A |
G |
9: 95,814,476 (GRCm39) |
M2058V |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Bscl2 |
A |
G |
19: 8,825,311 (GRCm39) |
E365G |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,608,634 (GRCm39) |
S77R |
probably benign |
Het |
Ccdc91 |
T |
C |
6: 147,464,194 (GRCm39) |
I214T |
unknown |
Het |
Chpf2 |
T |
C |
5: 24,796,821 (GRCm39) |
F589S |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,226,229 (GRCm39) |
Y2953F |
probably damaging |
Het |
Cts8 |
A |
T |
13: 61,397,086 (GRCm39) |
V278D |
probably damaging |
Het |
Cyp20a1 |
T |
C |
1: 60,392,181 (GRCm39) |
V79A |
probably damaging |
Het |
Dach1 |
G |
A |
14: 98,065,770 (GRCm39) |
Q686* |
probably null |
Het |
Daxx |
A |
G |
17: 34,131,138 (GRCm39) |
D355G |
probably damaging |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Eif4ebp2 |
A |
T |
10: 61,270,806 (GRCm39) |
H74Q |
probably benign |
Het |
Exoc3l |
T |
C |
8: 106,016,777 (GRCm39) |
D679G |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,378,516 (GRCm39) |
W349R |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,834,161 (GRCm39) |
Y4144N |
possibly damaging |
Het |
Gm37240 |
A |
G |
3: 84,405,045 (GRCm39) |
*253Q |
probably null |
Het |
Hycc1 |
T |
A |
5: 24,170,320 (GRCm39) |
D343V |
probably benign |
Het |
Ildr1 |
A |
C |
16: 36,542,734 (GRCm39) |
E422A |
probably benign |
Het |
Itsn2 |
A |
G |
12: 4,751,337 (GRCm39) |
E1309G |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,368,068 (GRCm39) |
D2231G |
probably benign |
Het |
Mtnr1a |
T |
C |
8: 45,538,675 (GRCm39) |
S38P |
probably benign |
Het |
Or10d3 |
C |
G |
9: 39,461,711 (GRCm39) |
G152A |
possibly damaging |
Het |
Or10d3 |
C |
A |
9: 39,461,712 (GRCm39) |
G152* |
probably null |
Het |
Or10v5 |
A |
G |
19: 11,805,596 (GRCm39) |
S265P |
probably damaging |
Het |
Or11h6 |
G |
T |
14: 50,880,211 (GRCm39) |
V152F |
probably benign |
Het |
Pate13 |
A |
C |
9: 35,820,351 (GRCm39) |
D25A |
probably damaging |
Het |
Pcdhb9 |
G |
A |
18: 37,535,901 (GRCm39) |
G632S |
probably damaging |
Het |
Pgr |
C |
A |
9: 8,958,449 (GRCm39) |
L819I |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,838,148 (GRCm39) |
S448P |
unknown |
Het |
Pip5k1a |
A |
G |
3: 94,971,695 (GRCm39) |
M471T |
probably benign |
Het |
Postn |
A |
G |
3: 54,296,760 (GRCm39) |
D758G |
probably damaging |
Het |
Rbmyf9 |
T |
A |
Y: 3,774,915 (GRCm39) |
|
probably null |
Het |
Rpl3 |
T |
C |
15: 79,963,902 (GRCm39) |
I280V |
probably benign |
Het |
Rtl1 |
A |
T |
12: 109,561,492 (GRCm39) |
S116T |
probably benign |
Het |
Six5 |
A |
G |
7: 18,829,049 (GRCm39) |
H163R |
probably benign |
Het |
Smarca4 |
A |
G |
9: 21,546,164 (GRCm39) |
D114G |
possibly damaging |
Het |
Tex46 |
C |
T |
4: 136,337,808 (GRCm39) |
|
probably benign |
Het |
Tmem144 |
A |
G |
3: 79,743,539 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,186,453 (GRCm39) |
T617A |
probably benign |
Het |
Vmn1r74 |
T |
A |
7: 11,580,903 (GRCm39) |
S68T |
probably benign |
Het |
Zfp184 |
G |
A |
13: 22,144,217 (GRCm39) |
R641Q |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,319,419 (GRCm39) |
R531H |
probably benign |
Het |
Zfp764 |
T |
C |
7: 127,003,862 (GRCm39) |
E423G |
possibly 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 |
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 |
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'- ACCAAGGCATGCTGTGTACC -3'
(R):5'- TACATATCCTCATAGGCAAGCC -3'
Sequencing Primer
(F):5'- GCTGTGTACCCCCACATCATAATG -3'
(R):5'- TATCCTCATAGGCAAGCCCCAAG -3'
|
Posted On |
2021-03-08 |