Incidental Mutation 'IGL03401:Actn1'
ID |
421426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actn1
|
Ensembl Gene |
ENSMUSG00000015143 |
Gene Name |
actinin, alpha 1 |
Synonyms |
3110023F10Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
IGL03401
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 80215741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 799
(L799*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
AlphaFold |
Q7TPR4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021554
AA Change: L804*
|
SMART Domains |
Protein: ENSMUSP00000021554 Gene: ENSMUSG00000015143 AA Change: L804*
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 null
Transcript: ENSMUST00000167327
AA Change: L799*
|
SMART Domains |
Protein: ENSMUSP00000127176 Gene: ENSMUSG00000015143 AA Change: L799*
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
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
Adam12 |
A |
T |
7: 133,518,192 (GRCm39) |
N327K |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
Agbl4 |
G |
T |
4: 110,976,216 (GRCm39) |
R191L |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
AW209491 |
A |
G |
13: 14,812,041 (GRCm39) |
D298G |
probably benign |
Het |
Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
T |
12: 105,795,381 (GRCm39) |
T611S |
probably benign |
Het |
Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
Trmt9b |
A |
C |
8: 36,972,823 (GRCm39) |
D91A |
probably damaging |
Het |
Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |