Incidental Mutation 'R8120:Acte1'
ID |
631459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acte1
|
Ensembl Gene |
ENSMUSG00000031085 |
Gene Name |
actin, epsilon 1 |
Synonyms |
Gm498, LOC244239 |
MMRRC Submission |
067549-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R8120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143420575-143453780 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143425524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134455]
[ENSMUST00000152910]
[ENSMUST00000179036]
[ENSMUST00000207235]
[ENSMUST00000207482]
[ENSMUST00000207630]
[ENSMUST00000208153]
[ENSMUST00000208038]
[ENSMUST00000208457]
[ENSMUST00000208761]
[ENSMUST00000207642]
[ENSMUST00000208625]
|
AlphaFold |
D3YYH9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000134455
AA Change: T58A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152910
AA Change: T58A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115809 Gene: ENSMUSG00000031085 AA Change: T58A
Domain | Start | End | E-Value | Type |
ACTIN
|
3 |
372 |
1.94e-125 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179036
AA Change: T60A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000137404 Gene: ENSMUSG00000031085 AA Change: T60A
Domain | Start | End | E-Value | Type |
ACTIN
|
5 |
330 |
1.4e-81 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207235
AA Change: T58A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207482
AA Change: T58A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207630
AA Change: T58A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208153
AA Change: T58A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208038
AA Change: T58A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208457
AA Change: T58A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208761
AA Change: T58A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208625
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,349,460 (GRCm39) |
Q239L |
probably benign |
Het |
Abca12 |
T |
C |
1: 71,298,540 (GRCm39) |
I2361V |
possibly damaging |
Het |
Abcc8 |
T |
C |
7: 45,786,108 (GRCm39) |
E655G |
probably benign |
Het |
Ablim1 |
C |
T |
19: 57,035,360 (GRCm39) |
V662I |
probably benign |
Het |
Als2cl |
A |
C |
9: 110,714,460 (GRCm39) |
I103L |
possibly damaging |
Het |
Arhgef26 |
A |
T |
3: 62,248,796 (GRCm39) |
D370V |
probably damaging |
Het |
Brwd1 |
A |
C |
16: 95,820,649 (GRCm39) |
D1292E |
probably benign |
Het |
Cdc5l |
T |
C |
17: 45,718,796 (GRCm39) |
T607A |
probably benign |
Het |
Cfhr1 |
T |
C |
1: 139,475,583 (GRCm39) |
Y296C |
unknown |
Het |
Cubn |
A |
T |
2: 13,336,471 (GRCm39) |
C2452S |
probably damaging |
Het |
Dgcr2 |
A |
T |
16: 17,675,183 (GRCm39) |
Y187* |
probably null |
Het |
Dhodh |
G |
A |
8: 110,328,057 (GRCm39) |
T172I |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,002,769 (GRCm39) |
R3876C |
probably damaging |
Het |
Dnai4 |
G |
A |
4: 102,923,531 (GRCm39) |
R433W |
probably damaging |
Het |
Farsb |
A |
T |
1: 78,439,475 (GRCm39) |
N389K |
probably benign |
Het |
Fryl |
T |
C |
5: 73,228,527 (GRCm39) |
T1735A |
probably benign |
Het |
Garin4 |
T |
G |
1: 190,895,022 (GRCm39) |
Q540H |
probably damaging |
Het |
Gpcpd1 |
C |
T |
2: 132,395,943 (GRCm39) |
R136H |
probably damaging |
Het |
Gpr171 |
T |
A |
3: 59,005,406 (GRCm39) |
Y123F |
probably damaging |
Het |
Hcar1 |
C |
A |
5: 124,017,068 (GRCm39) |
V208F |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,818,779 (GRCm39) |
L524M |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,360,368 (GRCm39) |
H57Q |
probably damaging |
Het |
Itpripl2 |
G |
T |
7: 118,089,508 (GRCm39) |
N350K |
probably damaging |
Het |
Limk2 |
C |
T |
11: 3,298,589 (GRCm39) |
|
probably null |
Het |
Nae1 |
A |
T |
8: 105,246,267 (GRCm39) |
V315E |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,637,422 (GRCm39) |
Y386C |
probably benign |
Het |
Odr4 |
T |
C |
1: 150,260,177 (GRCm39) |
|
probably null |
Het |
Or10j3 |
C |
T |
1: 173,031,502 (GRCm39) |
T193I |
probably benign |
Het |
Or6z5 |
A |
T |
7: 6,477,119 (GRCm39) |
R3S |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,717,574 (GRCm39) |
A1512T |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,430,524 (GRCm39) |
D176G |
possibly damaging |
Het |
Pde4dip |
T |
A |
3: 97,614,254 (GRCm39) |
T1855S |
probably null |
Het |
Prr12 |
A |
G |
7: 44,684,166 (GRCm39) |
Y1625H |
probably damaging |
Het |
Psmc2 |
T |
C |
5: 22,005,566 (GRCm39) |
Y216H |
probably damaging |
Het |
Ptchd3 |
A |
T |
11: 121,733,034 (GRCm39) |
E641D |
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,531,602 (GRCm39) |
T110A |
probably damaging |
Het |
Rusc1 |
C |
A |
3: 88,996,513 (GRCm39) |
W690L |
probably damaging |
Het |
Sardh |
A |
G |
2: 27,108,863 (GRCm39) |
V624A |
possibly damaging |
Het |
Slc17a9 |
G |
A |
2: 180,374,308 (GRCm39) |
G125S |
probably benign |
Het |
Smpdl3a |
A |
T |
10: 57,683,547 (GRCm39) |
N219I |
probably damaging |
Het |
Spo11 |
G |
T |
2: 172,827,251 (GRCm39) |
D155Y |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,660,099 (GRCm39) |
T44A |
probably benign |
Het |
Tceanc2 |
A |
T |
4: 107,034,829 (GRCm39) |
I11N |
probably benign |
Het |
Tead2 |
A |
T |
7: 44,865,752 (GRCm39) |
|
probably benign |
Het |
Tpk1 |
A |
G |
6: 43,445,930 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,593,835 (GRCm39) |
N20602D |
probably damaging |
Het |
Tub |
T |
A |
7: 108,624,803 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
T |
7: 33,867,812 (GRCm39) |
S42T |
probably benign |
Het |
Vangl1 |
T |
A |
3: 102,070,758 (GRCm39) |
R393* |
probably null |
Het |
Washc3 |
G |
A |
10: 88,037,159 (GRCm39) |
|
probably null |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp267 |
A |
T |
3: 36,218,640 (GRCm39) |
N221I |
possibly damaging |
Het |
Zfp386 |
C |
T |
12: 116,018,573 (GRCm39) |
P81S |
unknown |
Het |
Zw10 |
A |
T |
9: 48,985,413 (GRCm39) |
E616D |
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 |
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 |
|
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'- ATTCCCAGCAGCCTCAGG -3'
(R):5'- GCAGGTTCCTTCTGTAGGGA -3'
Sequencing Primer
(F):5'- GGCACTGGCTCAAGTCCAC -3'
(R):5'- GTAGTCTAAAGAGGTCTATGCTCCC -3'
|
Posted On |
2020-06-30 |