Incidental Mutation 'R5460:Actn1'
| ID |
432984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
042849-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R5460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80230342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 304
(N304S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
| AlphaFold |
Q7TPR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021554
AA Change: N304S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: N304S
| 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: N304S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: N304S
| 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: ENSMUST00000217984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218874
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
| Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
| Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
| Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
| Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
| Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,417 (GRCm39) |
D230V |
probably benign |
Het |
| Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
| Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
| Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
| Morf4l1 |
G |
A |
9: 89,977,183 (GRCm39) |
T246I |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,913,082 (GRCm39) |
R542C |
possibly damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
| Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
| Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
| Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,852,396 (GRCm39) |
E210D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,635,316 (GRCm39) |
F131I |
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 |
|
|
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'- TTGTAGGTAGAAGAAAACCCACCTC -3'
(R):5'- TTGCTGCAAGCCATGGTGAG -3'
Sequencing Primer
(F):5'- ACCCACCTCCATGCAGTTGG -3'
(R):5'- CAAGCCATGGTGAGGTCTTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation