Incidental Mutation 'R2157:Actn1'
ID |
234936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn1
|
Ensembl Gene |
ENSMUSG00000015143 |
Gene Name |
actinin, alpha 1 |
Synonyms |
3110023F10Rik |
MMRRC Submission |
040160-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
R2157 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80219891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 660
(M660K)
|
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: M660K
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021554 Gene: ENSMUSG00000015143 AA Change: M660K
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: M660K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000127176 Gene: ENSMUSG00000015143 AA Change: M660K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219634
|
Meta Mutation Damage Score |
0.1523 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (80/80) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
T |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
4930590J08Rik |
T |
A |
6: 91,919,468 (GRCm39) |
M709K |
possibly damaging |
Het |
4930590J08Rik |
A |
G |
6: 91,894,679 (GRCm39) |
|
probably null |
Het |
A930011G23Rik |
T |
G |
5: 99,379,956 (GRCm39) |
I394L |
probably damaging |
Het |
Abca13 |
A |
C |
11: 9,527,170 (GRCm39) |
M4528L |
probably damaging |
Het |
Abcb1b |
G |
A |
5: 8,874,791 (GRCm39) |
A484T |
probably benign |
Het |
Adgra3 |
G |
T |
5: 50,159,283 (GRCm39) |
N322K |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,607,788 (GRCm39) |
|
probably benign |
Het |
Apoa1 |
T |
C |
9: 46,140,471 (GRCm39) |
V34A |
probably damaging |
Het |
Arrdc1 |
G |
A |
2: 24,816,987 (GRCm39) |
A113V |
probably damaging |
Het |
As3mt |
A |
G |
19: 46,696,231 (GRCm39) |
D13G |
probably benign |
Het |
Cald1 |
A |
G |
6: 34,662,976 (GRCm39) |
Q13R |
possibly damaging |
Het |
Ccdc28a |
G |
A |
10: 18,106,203 (GRCm39) |
T41I |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,190,921 (GRCm39) |
|
probably benign |
Het |
Cct2 |
T |
C |
10: 116,898,714 (GRCm39) |
|
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,583,873 (GRCm39) |
I571T |
possibly damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
Comp |
C |
T |
8: 70,832,220 (GRCm39) |
Q554* |
probably null |
Het |
Csf2ra |
T |
C |
19: 61,215,509 (GRCm39) |
T70A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,559,183 (GRCm39) |
E2256G |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,669,208 (GRCm39) |
V1158D |
probably benign |
Het |
Dner |
A |
G |
1: 84,361,659 (GRCm39) |
F650S |
possibly damaging |
Het |
Dnm3 |
T |
C |
1: 162,135,462 (GRCm39) |
N437S |
possibly damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,592,076 (GRCm39) |
I176V |
probably benign |
Het |
Dpy19l2 |
A |
T |
9: 24,495,928 (GRCm39) |
C597S |
probably benign |
Het |
Edf1 |
T |
C |
2: 25,448,043 (GRCm39) |
|
probably null |
Het |
Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
Enpp3 |
A |
G |
10: 24,652,776 (GRCm39) |
F727S |
probably damaging |
Het |
Epb42 |
C |
T |
2: 120,852,243 (GRCm39) |
M583I |
probably benign |
Het |
Foxred1 |
A |
G |
9: 35,116,659 (GRCm39) |
F117S |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,372 (GRCm39) |
M811K |
possibly damaging |
Het |
Gm5117 |
A |
T |
8: 32,228,222 (GRCm39) |
|
noncoding transcript |
Het |
Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
Grik1 |
G |
A |
16: 87,853,012 (GRCm39) |
A57V |
probably damaging |
Het |
Hdgfl2 |
G |
A |
17: 56,405,691 (GRCm39) |
V476I |
possibly damaging |
Het |
Il17b |
G |
T |
18: 61,823,439 (GRCm39) |
W91L |
probably damaging |
Het |
Jph4 |
C |
A |
14: 55,350,984 (GRCm39) |
R344L |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,664,005 (GRCm39) |
D522G |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,179,480 (GRCm39) |
L398S |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,214 (GRCm39) |
T132A |
probably benign |
Het |
Mbtps1 |
G |
T |
8: 120,269,466 (GRCm39) |
T208K |
probably benign |
Het |
Mr1 |
A |
G |
1: 155,022,376 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,828,240 (GRCm39) |
L140F |
probably damaging |
Het |
Mybpc2 |
C |
G |
7: 44,159,269 (GRCm39) |
D594H |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,647,164 (GRCm39) |
M570V |
probably benign |
Het |
Ncam2 |
T |
C |
16: 81,287,277 (GRCm39) |
I397T |
probably damaging |
Het |
Ndufs4 |
C |
T |
13: 114,453,514 (GRCm39) |
V75I |
probably damaging |
Het |
Nek4 |
T |
A |
14: 30,701,925 (GRCm39) |
|
probably null |
Het |
Nfatc1 |
G |
T |
18: 80,679,060 (GRCm39) |
A762D |
possibly damaging |
Het |
Nhsl3 |
C |
T |
4: 129,117,917 (GRCm39) |
R249H |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,324,866 (GRCm39) |
I1209T |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,250 (GRCm39) |
I159T |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,213 (GRCm39) |
N88I |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,877 (GRCm39) |
D421G |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,820,112 (GRCm39) |
V285A |
possibly damaging |
Het |
Pigg |
T |
A |
5: 108,466,755 (GRCm39) |
I212N |
probably damaging |
Het |
Plcd3 |
A |
T |
11: 102,961,974 (GRCm39) |
C711S |
probably benign |
Het |
Plscr5 |
G |
A |
9: 92,080,550 (GRCm39) |
R12K |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,493,909 (GRCm39) |
I236V |
probably benign |
Het |
Ppp1r26 |
T |
C |
2: 28,342,370 (GRCm39) |
F667L |
probably benign |
Het |
Prkx |
A |
G |
X: 76,814,920 (GRCm39) |
F247L |
probably benign |
Het |
Qpct |
G |
A |
17: 79,378,115 (GRCm39) |
R95Q |
probably benign |
Het |
Ralgapb |
G |
T |
2: 158,279,392 (GRCm39) |
M159I |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,445,997 (GRCm39) |
L277P |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,366,669 (GRCm39) |
S705P |
probably damaging |
Het |
Slc4a8 |
A |
G |
15: 100,704,254 (GRCm39) |
T750A |
probably damaging |
Het |
Slc66a1 |
A |
T |
4: 139,029,166 (GRCm39) |
V106D |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,141,230 (GRCm39) |
E6114G |
probably damaging |
Het |
Tat |
T |
C |
8: 110,724,236 (GRCm39) |
M375T |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,436,522 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
T |
C |
5: 86,861,587 (GRCm39) |
K320E |
probably benign |
Het |
Tnr |
T |
C |
1: 159,685,840 (GRCm39) |
I357T |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,035,638 (GRCm39) |
R294S |
possibly damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,443 (GRCm39) |
D726N |
probably damaging |
Het |
Vpreb1b |
T |
A |
16: 17,798,934 (GRCm39) |
L140* |
probably null |
Het |
Wfs1 |
G |
A |
5: 37,125,286 (GRCm39) |
P535L |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,229,532 (GRCm39) |
L307P |
probably damaging |
Het |
Zfp160 |
A |
G |
17: 21,241,090 (GRCm39) |
S53G |
probably benign |
Het |
Zfp319 |
A |
G |
8: 96,054,659 (GRCm39) |
C515R |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,974,929 (GRCm39) |
F24L |
possibly damaging |
Het |
Zzef1 |
A |
T |
11: 72,739,460 (GRCm39) |
|
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 |
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 |
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'- GAGATGCTACCCCAAATGGAGG -3'
(R):5'- ATGCAGCTTCCCTATCAAGG -3'
Sequencing Primer
(F):5'- CTACCCCAAATGGAGGCTAGG -3'
(R):5'- GGAACGTCCACGCTAAATAGCTTTC -3'
|
Posted On |
2014-10-01 |