Incidental Mutation 'R4127:Actg2'
| ID |
315436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actg2
|
| Ensembl Gene |
ENSMUSG00000059430 |
| Gene Name |
actin, gamma 2, smooth muscle, enteric |
| Synonyms |
SMGA, Acta3, Act-4, Act4 |
| MMRRC Submission |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4127 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83489891-83513233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83499866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 128
(F128Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075161]
[ENSMUST00000121731]
[ENSMUST00000141904]
[ENSMUST00000152029]
[ENSMUST00000205926]
|
| AlphaFold |
P63268 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075161
AA Change: F128Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: F128Y
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
376 |
6.01e-236 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121731
AA Change: F128Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: F128Y
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
376 |
6.01e-236 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124933
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141904
AA Change: F128Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: F128Y
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
270 |
4.78e-116 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152029
AA Change: F128Y
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: F128Y
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
195 |
1.09e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205926
AA Change: F55Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. 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. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
probably null |
Het |
|
| Other mutations in Actg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Actg2
|
APN |
6 |
83,500,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4508001:Actg2
|
UTSW |
6 |
83,489,989 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0309:Actg2
|
UTSW |
6 |
83,496,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Actg2
|
UTSW |
6 |
83,497,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Actg2
|
UTSW |
6 |
83,499,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Actg2
|
UTSW |
6 |
83,500,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Actg2
|
UTSW |
6 |
83,499,801 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2512:Actg2
|
UTSW |
6 |
83,503,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Actg2
|
UTSW |
6 |
83,500,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Actg2
|
UTSW |
6 |
83,503,814 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5661:Actg2
|
UTSW |
6 |
83,497,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6030:Actg2
|
UTSW |
6 |
83,493,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Actg2
|
UTSW |
6 |
83,493,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Actg2
|
UTSW |
6 |
83,490,076 (GRCm39) |
nonsense |
probably null |
|
|
R7069:Actg2
|
UTSW |
6 |
83,497,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Actg2
|
UTSW |
6 |
83,504,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Actg2
|
UTSW |
6 |
83,497,697 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTCTGCCTTTCAAAACAGAAGG -3'
(R):5'- AGCACTGTGTAGCAATGCAG -3'
Sequencing Primer
(F):5'- CTGCCTTTCAAAACAGAAGGTATGGC -3'
(R):5'- GCAGTAAAATGTCCTTACAGATCTGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation