Incidental Mutation 'R6499:Actn1'
| ID |
519639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
044631-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R6499 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80215191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 857
(A857T)
|
| 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: A862T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: A862T
| 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: A857T
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: A857T
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
| Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
| B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
| Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
| Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
| Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
| Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
| Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
| Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
| Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
| Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
| Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
| Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
| Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
| Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
| Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
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 |
|
|
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'- TGGCTGAGCTGAAAATAATGAACC -3'
(R):5'- TGCACGCACGTATTCTACAG -3'
Sequencing Primer
(F):5'- TGAGCTGAAAATAATGAACCCAGCC -3'
(R):5'- CGCACGTATTCTACAGATCAAGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation