Incidental Mutation 'R6328:Actg1'
| ID |
510821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actg1
|
| Ensembl Gene |
ENSMUSG00000062825 |
| Gene Name |
actin, gamma, cytoplasmic 1 |
| Synonyms |
E51, Actl |
| MMRRC Submission |
044482-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120236513-120239321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120238586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 80
(D80G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062147]
[ENSMUST00000071555]
[ENSMUST00000089616]
[ENSMUST00000106215]
[ENSMUST00000128055]
[ENSMUST00000131103]
|
| AlphaFold |
P63260 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062147
|
| SMART Domains |
Protein: ENSMUSP00000101821
Gene: ENSMUSG00000062825
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
153 |
1.43e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071555
AA Change: D80G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: D80G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
375 |
2.96e-244 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089616
|
| SMART Domains |
Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Actin
|
1 |
84 |
3.8e-32 |
PFAM |
|
Pfam:Actin
|
78 |
105 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106215
AA Change: D80G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: D80G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
375 |
2.96e-244 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128055
AA Change: D137G
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134296
Gene: ENSMUSG00000062825
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
62 |
268 |
6.73e-61 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131103
AA Change: D80G
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134070
Gene: ENSMUSG00000062825
AA Change: D80G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Actin
|
2 |
124 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175523
|
| Meta Mutation Damage Score |
0.9008 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta, and gamma, have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice in which this gene has been conditionally disrupted in muscle tissue display a reduced mobility and classical hind limb contractures when suspended by the tail. Mice homozygous for a null allele exhibit prenatal lethality, premature death, and progressive hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
G |
A |
8: 124,688,756 (GRCm39) |
R507W |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,477,264 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,984,512 (GRCm39) |
T1932I |
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,327,371 (GRCm39) |
T603S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,155,053 (GRCm39) |
F964I |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,215,570 (GRCm39) |
T77A |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,319,503 (GRCm39) |
H198R |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,519 (GRCm39) |
R16W |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,406 (GRCm39) |
R1103Q |
probably damaging |
Het |
| Cd59a |
A |
C |
2: 103,941,103 (GRCm39) |
Y27S |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,413 (GRCm39) |
H162R |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,212 (GRCm39) |
E240K |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,814,634 (GRCm39) |
V603A |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,772,980 (GRCm39) |
V359A |
probably benign |
Het |
| Dis3l2 |
T |
A |
1: 86,782,153 (GRCm39) |
S223T |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,679,734 (GRCm39) |
S535G |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,982 (GRCm39) |
K1977* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,165,717 (GRCm39) |
S515T |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,072,179 (GRCm39) |
E2397G |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,096 (GRCm39) |
G262S |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,509 (GRCm39) |
T477S |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,819 (GRCm39) |
E382G |
probably benign |
Het |
| Gltp |
A |
T |
5: 114,808,572 (GRCm39) |
C157S |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,887,905 (GRCm39) |
S378P |
probably damaging |
Het |
| Gulo |
G |
T |
14: 66,240,080 (GRCm39) |
T126K |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,124,836 (GRCm39) |
M251K |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,422,205 (GRCm39) |
D967G |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,858,933 (GRCm39) |
D68E |
probably damaging |
Het |
| Igkv5-39 |
G |
T |
6: 69,877,489 (GRCm39) |
S89* |
probably null |
Het |
| Kctd4 |
C |
A |
14: 76,200,037 (GRCm39) |
|
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,813 (GRCm39) |
Q255R |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,656 (GRCm39) |
I82T |
possibly damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,194 (GRCm39) |
M45L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,869,248 (GRCm39) |
K158I |
possibly damaging |
Het |
| Nufip1 |
C |
T |
14: 76,348,494 (GRCm39) |
P41L |
possibly damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,739 (GRCm39) |
W21R |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,073 (GRCm39) |
E183D |
probably damaging |
Het |
| Pcp2 |
T |
C |
8: 3,674,887 (GRCm39) |
D22G |
probably damaging |
Het |
| Pdk2 |
G |
C |
11: 94,930,228 (GRCm39) |
N69K |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,655,905 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
C |
A |
1: 138,041,416 (GRCm39) |
E148* |
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,108,405 (GRCm39) |
V225E |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,664,458 (GRCm39) |
M725K |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,660 (GRCm39) |
I1867F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,684,581 (GRCm39) |
Q1960L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,064,474 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,381,345 (GRCm39) |
R496* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,878,176 (GRCm39) |
V222I |
probably damaging |
Het |
| Sntg2 |
A |
C |
12: 30,308,013 (GRCm39) |
L224R |
probably damaging |
Het |
| Syt16 |
C |
A |
12: 74,313,467 (GRCm39) |
C464* |
probably null |
Het |
| Tapbpl |
T |
A |
6: 125,201,881 (GRCm39) |
S420C |
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,723,694 (GRCm39) |
E528G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,602,710 (GRCm39) |
T219A |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,981 (GRCm39) |
F467L |
probably damaging |
Het |
|
| Other mutations in Actg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0731:Actg1
|
UTSW |
11 |
120,237,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Actg1
|
UTSW |
11 |
120,237,636 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2860:Actg1
|
UTSW |
11 |
120,237,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2861:Actg1
|
UTSW |
11 |
120,237,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2862:Actg1
|
UTSW |
11 |
120,237,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4473:Actg1
|
UTSW |
11 |
120,239,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Actg1
|
UTSW |
11 |
120,238,305 (GRCm39) |
splice site |
probably benign |
|
|
R5004:Actg1
|
UTSW |
11 |
120,238,986 (GRCm39) |
intron |
probably benign |
|
|
R5026:Actg1
|
UTSW |
11 |
120,237,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Actg1
|
UTSW |
11 |
120,237,839 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5216:Actg1
|
UTSW |
11 |
120,238,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6660:Actg1
|
UTSW |
11 |
120,237,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Actg1
|
UTSW |
11 |
120,238,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Actg1
|
UTSW |
11 |
120,239,010 (GRCm39) |
missense |
unknown |
|
|
R8488:Actg1
|
UTSW |
11 |
120,238,517 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9033:Actg1
|
UTSW |
11 |
120,237,826 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9189:Actg1
|
UTSW |
11 |
120,239,013 (GRCm39) |
missense |
unknown |
|
|
Z1177:Actg1
|
UTSW |
11 |
120,238,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACTCGTCACGCCCAAG -3'
(R):5'- TGTTCCCTTCCATCGTAGGG -3'
Sequencing Primer
(F):5'- CCAAGGGGAGGCAAGGTCC -3'
(R):5'- CCGACACCAGGTTAGTTGAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation