Incidental Mutation 'R7452:Actn1'
| ID |
577821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
045526-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80230376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 293
(T293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
| AlphaFold |
Q7TPR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021554
AA Change: T293A
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: T293A
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
133 |
4.24e-23 |
SMART |
|
CH
|
146 |
245 |
5.06e-21 |
SMART |
|
Pfam:Spectrin
|
274 |
384 |
5.9e-17 |
PFAM |
|
SPEC
|
397 |
498 |
1.69e-25 |
SMART |
|
SPEC
|
512 |
619 |
1.47e-2 |
SMART |
|
Pfam:Spectrin
|
630 |
733 |
4.7e-14 |
PFAM |
|
EFh
|
750 |
778 |
1.73e-5 |
SMART |
|
EFh
|
791 |
819 |
8.13e-2 |
SMART |
|
efhand_Ca_insen
|
822 |
888 |
5.22e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167327
AA Change: T293A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: T293A
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
133 |
4.24e-23 |
SMART |
|
CH
|
146 |
245 |
5.06e-21 |
SMART |
|
Pfam:Spectrin
|
274 |
384 |
1.7e-17 |
PFAM |
|
SPEC
|
397 |
498 |
1.69e-25 |
SMART |
|
SPEC
|
512 |
619 |
1.47e-2 |
SMART |
|
Pfam:Spectrin
|
630 |
733 |
8.4e-14 |
PFAM |
|
EFh
|
750 |
778 |
1.36e0 |
SMART |
|
EFh
|
786 |
814 |
8.13e-2 |
SMART |
|
efhand_Ca_insen
|
817 |
883 |
5.22e-38 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,618,291 (GRCm39) |
Q195K |
probably damaging |
Het |
| Abcg4 |
C |
T |
9: 44,190,897 (GRCm39) |
G249R |
probably damaging |
Het |
| Adamts5 |
T |
A |
16: 85,674,869 (GRCm39) |
T432S |
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,506 (GRCm39) |
T347A |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 31,050,735 (GRCm39) |
D432G |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,734,881 (GRCm39) |
T797A |
possibly damaging |
Het |
| Aoc1 |
T |
G |
6: 48,885,724 (GRCm39) |
V743G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,833,892 (GRCm39) |
S858R |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,480,438 (GRCm39) |
V162G |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,140,814 (GRCm39) |
D588G |
possibly damaging |
Het |
| Art3 |
A |
G |
5: 92,540,539 (GRCm39) |
Y94C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,946,527 (GRCm39) |
D444E |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,282,075 (GRCm39) |
H111R |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,717,596 (GRCm39) |
L469P |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,406 (GRCm39) |
E802V |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,452,981 (GRCm39) |
D574G |
probably damaging |
Het |
| Chd7 |
A |
C |
4: 8,854,731 (GRCm39) |
D2024A |
probably benign |
Het |
| Corin |
T |
A |
5: 72,592,590 (GRCm39) |
D269V |
possibly damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,795 (GRCm39) |
I359F |
probably damaging |
Het |
| Defb6 |
T |
C |
8: 19,275,540 (GRCm39) |
L7P |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,196 (GRCm39) |
M1817L |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,866,664 (GRCm39) |
F682S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,065,052 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Enpp2 |
T |
C |
15: 54,730,132 (GRCm39) |
N462S |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,107 (GRCm39) |
|
probably null |
Het |
| F7 |
C |
T |
8: 13,085,215 (GRCm39) |
H414Y |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,347,375 (GRCm39) |
H50R |
possibly damaging |
Het |
| Fig4 |
T |
C |
10: 41,116,633 (GRCm39) |
D586G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,181,331 (GRCm39) |
L2825P |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,800,240 (GRCm39) |
H30Q |
possibly damaging |
Het |
| Garre1 |
A |
G |
7: 33,945,096 (GRCm39) |
S595P |
probably benign |
Het |
| Gm12886 |
G |
A |
4: 121,274,671 (GRCm39) |
Q70* |
probably null |
Het |
| Gm8104 |
A |
C |
14: 42,967,501 (GRCm39) |
T190P |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,592 (GRCm39) |
N749K |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,808,926 (GRCm39) |
T1101A |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,423,074 (GRCm39) |
S210T |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,901,615 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
A |
G |
7: 80,410,577 (GRCm39) |
V212A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,243,607 (GRCm39) |
E448G |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,552,686 (GRCm39) |
C1221R |
probably damaging |
Het |
| Lrrc72 |
T |
C |
12: 36,262,692 (GRCm39) |
Y52C |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,030 (GRCm39) |
I3617T |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,379,705 (GRCm39) |
H98Q |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,384,733 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,517,056 (GRCm39) |
I458L |
probably benign |
Het |
| Nfam1 |
T |
A |
15: 82,899,163 (GRCm39) |
M128L |
probably benign |
Het |
| Or2y13 |
C |
A |
11: 49,415,208 (GRCm39) |
H219Q |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,137,266 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5p75-ps1 |
C |
T |
7: 108,107,800 (GRCm39) |
T179I |
unknown |
Het |
| Or8b50 |
A |
T |
9: 38,518,384 (GRCm39) |
I208F |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,023,466 (GRCm39) |
G7D |
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,966,758 (GRCm39) |
Y564H |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,058,467 (GRCm39) |
V262I |
probably benign |
Het |
| Poli |
A |
G |
18: 70,642,049 (GRCm39) |
V717A |
possibly damaging |
Het |
| Prdm14 |
A |
T |
1: 13,195,783 (GRCm39) |
W93R |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,428 (GRCm39) |
M396V |
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,248,587 (GRCm39) |
V212A |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skp2 |
T |
A |
15: 9,113,920 (GRCm39) |
Q366L |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,269,034 (GRCm39) |
S312T |
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,142 (GRCm39) |
L255P |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,155,585 (GRCm39) |
E458G |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,797,461 (GRCm39) |
D311V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,630,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,731,792 (GRCm39) |
I47F |
|
Het |
| Trp53bp2 |
C |
T |
1: 182,274,133 (GRCm39) |
Q95* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,707,487 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,040,397 (GRCm39) |
S1626P |
probably benign |
Het |
| Usp3 |
T |
C |
9: 66,474,180 (GRCm39) |
R33G |
probably benign |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
|
| Other mutations in Actn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Actn1
|
APN |
12 |
80,245,846 (GRCm39) |
splice site |
probably null |
|
|
IGL01152:Actn1
|
APN |
12 |
80,245,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Actn1
|
APN |
12 |
80,240,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01890:Actn1
|
APN |
12 |
80,231,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01937:Actn1
|
APN |
12 |
80,218,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02142:Actn1
|
APN |
12 |
80,222,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02191:Actn1
|
APN |
12 |
80,220,883 (GRCm39) |
missense |
probably benign |
|
|
IGL02217:Actn1
|
APN |
12 |
80,220,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL02230:Actn1
|
APN |
12 |
80,218,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03163:Actn1
|
APN |
12 |
80,228,191 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03401:Actn1
|
APN |
12 |
80,215,741 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Actn1
|
UTSW |
12 |
80,306,874 (GRCm39) |
unclassified |
probably benign |
|
|
R0546:Actn1
|
UTSW |
12 |
80,225,208 (GRCm39) |
missense |
probably benign |
|
|
R0583:Actn1
|
UTSW |
12 |
80,245,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Actn1
|
UTSW |
12 |
80,221,421 (GRCm39) |
splice site |
probably benign |
|
|
R1340:Actn1
|
UTSW |
12 |
80,219,918 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1519:Actn1
|
UTSW |
12 |
80,251,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Actn1
|
UTSW |
12 |
80,219,731 (GRCm39) |
splice site |
probably benign |
|
|
R1619:Actn1
|
UTSW |
12 |
80,219,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Actn1
|
UTSW |
12 |
80,306,806 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1994:Actn1
|
UTSW |
12 |
80,251,745 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Actn1
|
UTSW |
12 |
80,230,291 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2157:Actn1
|
UTSW |
12 |
80,219,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2191:Actn1
|
UTSW |
12 |
80,218,576 (GRCm39) |
nonsense |
probably null |
|
|
R2519:Actn1
|
UTSW |
12 |
80,239,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2988:Actn1
|
UTSW |
12 |
80,239,162 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4024:Actn1
|
UTSW |
12 |
80,215,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Actn1
|
UTSW |
12 |
80,218,573 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4907:Actn1
|
UTSW |
12 |
80,228,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4936:Actn1
|
UTSW |
12 |
80,219,772 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4966:Actn1
|
UTSW |
12 |
80,219,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4972:Actn1
|
UTSW |
12 |
80,219,813 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5395:Actn1
|
UTSW |
12 |
80,217,477 (GRCm39) |
missense |
probably benign |
|
|
R5460:Actn1
|
UTSW |
12 |
80,230,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5467:Actn1
|
UTSW |
12 |
80,222,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5470:Actn1
|
UTSW |
12 |
80,215,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5661:Actn1
|
UTSW |
12 |
80,231,618 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5985:Actn1
|
UTSW |
12 |
80,215,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Actn1
|
UTSW |
12 |
80,221,229 (GRCm39) |
splice site |
probably null |
|
|
R6042:Actn1
|
UTSW |
12 |
80,224,023 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6389:Actn1
|
UTSW |
12 |
80,221,296 (GRCm39) |
missense |
probably benign |
|
|
R6499:Actn1
|
UTSW |
12 |
80,215,191 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6709:Actn1
|
UTSW |
12 |
80,240,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Actn1
|
UTSW |
12 |
80,219,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7116:Actn1
|
UTSW |
12 |
80,251,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Actn1
|
UTSW |
12 |
80,224,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7183:Actn1
|
UTSW |
12 |
80,215,706 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7291:Actn1
|
UTSW |
12 |
80,220,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7361:Actn1
|
UTSW |
12 |
80,240,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7698:Actn1
|
UTSW |
12 |
80,221,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7701:Actn1
|
UTSW |
12 |
80,221,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8000:Actn1
|
UTSW |
12 |
80,245,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Actn1
|
UTSW |
12 |
80,243,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8287:Actn1
|
UTSW |
12 |
80,220,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Actn1
|
UTSW |
12 |
80,240,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8794:Actn1
|
UTSW |
12 |
80,245,754 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8887:Actn1
|
UTSW |
12 |
80,215,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Actn1
|
UTSW |
12 |
80,240,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9269:Actn1
|
UTSW |
12 |
80,219,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Actn1
|
UTSW |
12 |
80,240,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Actn1
|
UTSW |
12 |
80,230,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCACCTCCATGCAGTTG -3'
(R):5'- ATCCTGGTCAACTTGGAGGAAG -3'
Sequencing Primer
(F):5'- CATGAAGGCAGGCCGGTTG -3'
(R):5'- GTCAACTTGGAGGAAGCACCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation