Incidental Mutation 'R7701:Actn1'
| ID |
594019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
045762-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R7701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80221328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 575
(V575E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
| AlphaFold |
Q7TPR4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021554
AA Change: V575E
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: V575E
| 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 |
possibly damaging
Transcript: ENSMUST00000167327
AA Change: V575E
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: V575E
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
T |
C |
2: 170,443,225 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
A |
2: 68,561,548 (GRCm39) |
V292M |
possibly damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,003 (GRCm39) |
S129P |
probably benign |
Het |
| Aup1 |
T |
C |
6: 83,032,908 (GRCm39) |
V214A |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,135,874 (GRCm39) |
E329G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,030 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
A |
G |
2: 5,142,868 (GRCm39) |
T42A |
possibly damaging |
Het |
| Cd276 |
T |
C |
9: 58,442,810 (GRCm39) |
N215S |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,020,772 (GRCm39) |
M381K |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,072,656 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
C |
9: 105,960,087 (GRCm39) |
F19V |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,865,139 (GRCm39) |
A1446E |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,140,670 (GRCm39) |
R496K |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,253,513 (GRCm39) |
T2308A |
possibly damaging |
Het |
| Duxf1 |
A |
G |
10: 58,058,885 (GRCm39) |
V623A |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,585,080 (GRCm39) |
D828N |
probably damaging |
Het |
| Eif2a |
A |
T |
3: 58,459,991 (GRCm39) |
H462L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,928,942 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
G |
7: 51,643,101 (GRCm39) |
Y263* |
probably null |
Het |
| Gm5111 |
A |
G |
6: 48,567,027 (GRCm39) |
I81V |
unknown |
Het |
| Iqcm |
A |
G |
8: 76,281,539 (GRCm39) |
I7M |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,129 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
T |
5: 146,961,333 (GRCm39) |
V533E |
probably damaging |
Het |
| Mapk8ip3 |
G |
T |
17: 25,120,378 (GRCm39) |
P904T |
possibly damaging |
Het |
| Mcm5 |
C |
A |
8: 75,850,551 (GRCm39) |
H596N |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,371 (GRCm39) |
V237E |
probably null |
Het |
| Mob3a |
G |
A |
10: 80,525,768 (GRCm39) |
A181V |
probably damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,026,104 (GRCm39) |
R99W |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,042 (GRCm39) |
T486A |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,030 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or5b102 |
A |
G |
19: 13,041,445 (GRCm39) |
I223M |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,597 (GRCm39) |
Y305C |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,126,864 (GRCm39) |
N449Y |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,562 (GRCm39) |
D161V |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,361,576 (GRCm39) |
D134G |
probably benign |
Het |
| Phpt1 |
A |
G |
2: 25,464,799 (GRCm39) |
V18A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,333,293 (GRCm39) |
K177E |
possibly damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,073,427 (GRCm39) |
F150L |
|
Het |
| Rgs14 |
A |
G |
13: 55,527,138 (GRCm39) |
D169G |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,092 (GRCm39) |
L484F |
possibly damaging |
Het |
| Rsph14 |
A |
T |
10: 74,793,608 (GRCm39) |
Y264* |
probably null |
Het |
| Scly |
T |
C |
1: 91,236,030 (GRCm39) |
I152T |
|
Het |
| Ska1 |
A |
T |
18: 74,335,714 (GRCm39) |
H85Q |
probably damaging |
Het |
| Slc35b3 |
T |
C |
13: 39,128,611 (GRCm39) |
M159V |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,767 (GRCm39) |
|
probably benign |
Het |
| Spock1 |
G |
A |
13: 57,735,472 (GRCm39) |
Q103* |
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,210,184 (GRCm39) |
V914A |
probably damaging |
Het |
| Tspan3 |
A |
T |
9: 56,054,803 (GRCm39) |
Y41* |
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,560,028 (GRCm39) |
I29458L |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,052,757 (GRCm39) |
E346* |
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,476,000 (GRCm39) |
|
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,654,357 (GRCm39) |
T284A |
probably benign |
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 |
|
R7452:Actn1
|
UTSW |
12 |
80,230,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7698:Actn1
|
UTSW |
12 |
80,221,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GAGTGAAGATGTCAACTTGGTC -3'
(R):5'- TAGGTGTGGGACTTGCTACC -3'
Sequencing Primer
(F):5'- ACTTGGTCTAGAAATTCATTCACTG -3'
(R):5'- GTGGGACTTGCTACCTCTTAGATTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation