Incidental Mutation 'R0583:Actn1'
ID |
56525 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn1
|
Ensembl Gene |
ENSMUSG00000015143 |
Gene Name |
actinin, alpha 1 |
Synonyms |
3110023F10Rik |
MMRRC Submission |
038773-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
R0583 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80245803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 127
(I127F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
AlphaFold |
Q7TPR4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021554
AA Change: I127F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021554 Gene: ENSMUSG00000015143 AA Change: I127F
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 damaging
Transcript: ENSMUST00000167327
AA Change: I127F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127176 Gene: ENSMUSG00000015143 AA Change: I127F
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: ENSMUST00000218874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220351
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 93.2%
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,926 (GRCm39) |
S483P |
probably benign |
Het |
5730480H06Rik |
A |
G |
5: 48,537,470 (GRCm39) |
H169R |
probably damaging |
Het |
Cadm3 |
T |
G |
1: 173,168,738 (GRCm39) |
T277P |
probably benign |
Het |
Cast |
T |
C |
13: 74,861,797 (GRCm39) |
T629A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,526,486 (GRCm39) |
C201F |
probably benign |
Het |
Ccdc154 |
T |
A |
17: 25,387,398 (GRCm39) |
D375E |
possibly damaging |
Het |
Cdk6 |
A |
G |
5: 3,523,183 (GRCm39) |
D201G |
probably damaging |
Het |
Cep95 |
T |
C |
11: 106,705,449 (GRCm39) |
V478A |
probably benign |
Het |
Ciita |
T |
C |
16: 10,341,668 (GRCm39) |
|
probably null |
Het |
Clec4e |
A |
G |
6: 123,260,653 (GRCm39) |
F135S |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,753,275 (GRCm39) |
D337G |
possibly damaging |
Het |
Crlf3 |
A |
T |
11: 79,950,107 (GRCm39) |
H174Q |
probably damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,335,339 (GRCm39) |
F93I |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,552,374 (GRCm39) |
I271T |
probably benign |
Het |
Duxf1 |
G |
A |
10: 58,059,210 (GRCm39) |
L515F |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
Fhad1 |
C |
T |
4: 141,631,301 (GRCm39) |
M1297I |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,029,095 (GRCm39) |
V244A |
possibly damaging |
Het |
Ikzf5 |
A |
G |
7: 130,993,514 (GRCm39) |
|
probably null |
Het |
Ilvbl |
T |
A |
10: 78,419,101 (GRCm39) |
V450E |
probably damaging |
Het |
Kcns3 |
T |
G |
12: 11,141,479 (GRCm39) |
N407H |
probably damaging |
Het |
Klhl11 |
T |
C |
11: 100,355,150 (GRCm39) |
K224E |
possibly damaging |
Het |
Klra17 |
T |
A |
6: 129,845,656 (GRCm39) |
D186V |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,389,263 (GRCm39) |
D2054G |
probably benign |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Mrgbp |
A |
G |
2: 180,226,239 (GRCm39) |
N104S |
probably benign |
Het |
Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
Muc5ac |
C |
A |
7: 141,361,345 (GRCm39) |
T1552N |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,410,435 (GRCm39) |
Y1269* |
probably null |
Het |
Myef2 |
T |
C |
2: 124,939,901 (GRCm39) |
|
probably null |
Het |
Myg1 |
C |
T |
15: 102,246,225 (GRCm39) |
Q367* |
probably null |
Het |
Nalcn |
T |
C |
14: 123,531,755 (GRCm39) |
N1365S |
possibly damaging |
Het |
Nfu1 |
T |
C |
6: 86,986,934 (GRCm39) |
C18R |
probably benign |
Het |
Nkx2-6 |
A |
T |
14: 69,412,228 (GRCm39) |
Q132L |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,621 (GRCm39) |
A199T |
possibly damaging |
Het |
Or8k38 |
T |
A |
2: 86,488,704 (GRCm39) |
I33F |
probably benign |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Prh1 |
A |
T |
6: 132,548,796 (GRCm39) |
Q101L |
unknown |
Het |
Ribc2 |
A |
T |
15: 85,017,115 (GRCm39) |
|
probably null |
Het |
Rnf19a |
C |
A |
15: 36,253,151 (GRCm39) |
R396L |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,452,923 (GRCm39) |
I105T |
probably damaging |
Het |
Sec24b |
G |
T |
3: 129,834,960 (GRCm39) |
Y79* |
probably null |
Het |
Tatdn2 |
A |
G |
6: 113,679,486 (GRCm39) |
E277G |
possibly damaging |
Het |
Tex10 |
A |
C |
4: 48,451,952 (GRCm39) |
F725V |
probably damaging |
Het |
Themis3 |
T |
C |
17: 66,866,748 (GRCm39) |
D164G |
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,194,732 (GRCm39) |
W220R |
probably damaging |
Het |
Usp33 |
C |
A |
3: 152,073,891 (GRCm39) |
R246S |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,897,043 (GRCm39) |
V130E |
probably benign |
Het |
Vmn2r112 |
C |
T |
17: 22,837,930 (GRCm39) |
P797L |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,076,262 (GRCm39) |
V340A |
probably damaging |
Het |
Zfta |
A |
G |
19: 7,397,639 (GRCm39) |
D62G |
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 |
|
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 |
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'- AAATGCCGCTGGGCTGACATAC -3'
(R):5'- TCTCAAGAGAATCACCTGTCCCTCC -3'
Sequencing Primer
(F):5'- CGCTGGGCTGACATACTTTTG -3'
(R):5'- GGCCAATCAAAGTGTCTGTG -3'
|
Posted On |
2013-07-11 |