Incidental Mutation 'R6389:Actn1'
| ID |
515708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
044538-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R6389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80221296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 586
(M586L)
|
| 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: M586L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: M586L
| 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: M586L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: M586L
| 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 |
0.0691 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,254 (GRCm39) |
L326R |
possibly damaging |
Het |
| Abcb11 |
A |
T |
2: 69,154,238 (GRCm39) |
N109K |
probably damaging |
Het |
| Ago4 |
T |
A |
4: 126,401,037 (GRCm39) |
I603F |
probably damaging |
Het |
| Bicc1 |
A |
T |
10: 70,794,752 (GRCm39) |
V135D |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,380,196 (GRCm39) |
N704D |
possibly damaging |
Het |
| Cadm4 |
A |
C |
7: 24,198,959 (GRCm39) |
Q78P |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,507,793 (GRCm39) |
I248T |
possibly damaging |
Het |
| Clu |
G |
C |
14: 66,208,771 (GRCm39) |
|
probably benign |
Het |
| Cnnm3 |
T |
C |
1: 36,559,603 (GRCm39) |
V514A |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,176,577 (GRCm39) |
I225F |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,634,376 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,849 (GRCm39) |
V640A |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,190,278 (GRCm39) |
T572A |
probably benign |
Het |
| D16Ertd472e |
A |
G |
16: 78,342,071 (GRCm39) |
S270P |
probably damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,788 (GRCm39) |
N488I |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,478,767 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,232,265 (GRCm39) |
L3464P |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,575,879 (GRCm39) |
P27S |
unknown |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,230 (GRCm39) |
F304I |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,928,734 (GRCm39) |
Q108R |
unknown |
Het |
| Hcn3 |
C |
T |
3: 89,058,240 (GRCm39) |
A339T |
possibly damaging |
Het |
| Inpp5f |
A |
G |
7: 128,279,780 (GRCm39) |
D460G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,329,145 (GRCm39) |
E253G |
possibly damaging |
Het |
| Klrg1 |
T |
C |
6: 122,248,431 (GRCm39) |
N156S |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,907 (GRCm39) |
N5S |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,891,063 (GRCm39) |
E368A |
probably damaging |
Het |
| Ly9 |
G |
C |
1: 171,424,105 (GRCm39) |
S482C |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,905,975 (GRCm39) |
D289G |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,712,357 (GRCm39) |
T173A |
probably benign |
Het |
| Mup16 |
T |
C |
4: 61,437,177 (GRCm39) |
E48G |
probably damaging |
Het |
| Naf1 |
C |
T |
8: 67,313,680 (GRCm39) |
S24L |
possibly damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,237,736 (GRCm39) |
S2024P |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,807 (GRCm39) |
Q83K |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,245,524 (GRCm39) |
Y265H |
probably damaging |
Het |
| Odad1 |
G |
T |
7: 45,597,940 (GRCm39) |
V617F |
probably benign |
Het |
| Or4a27 |
A |
G |
2: 88,559,016 (GRCm39) |
V309A |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or5w8 |
C |
T |
2: 87,688,367 (GRCm39) |
P283S |
probably damaging |
Het |
| Oxct2a |
T |
A |
4: 123,217,220 (GRCm39) |
K54* |
probably null |
Het |
| Oxct2b |
G |
T |
4: 123,010,367 (GRCm39) |
D96Y |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,922,191 (GRCm39) |
Y250H |
probably damaging |
Het |
| Plekhm1 |
G |
T |
11: 103,257,720 (GRCm39) |
N1071K |
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,989,564 (GRCm39) |
T269I |
possibly damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,649,684 (GRCm39) |
H304L |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,601 (GRCm39) |
K383E |
possibly damaging |
Het |
| Sel1l2 |
C |
A |
2: 140,087,274 (GRCm39) |
A466S |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,844 (GRCm39) |
I57V |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,977,137 (GRCm39) |
E81G |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,636,631 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,567 (GRCm39) |
D735G |
probably damaging |
Het |
| Tspan17 |
A |
T |
13: 54,943,429 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
T |
C |
1: 57,430,658 (GRCm39) |
K175R |
probably damaging |
Het |
| Ube2o |
A |
C |
11: 116,439,684 (GRCm39) |
I162R |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,711,520 (GRCm39) |
T1458K |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,478,344 (GRCm39) |
Q33L |
probably benign |
Het |
| Zfp1007 |
G |
A |
5: 109,823,885 (GRCm39) |
P522S |
possibly damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,552 (GRCm39) |
L238P |
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 |
|
|
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 |
|
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'- TGGGCCAGATACCTCAAAGG -3'
(R):5'- TCACTAGGTGTGGGACTTGC -3'
Sequencing Primer
(F):5'- AGTGAAGATGTCAACTTGGTCTAG -3'
(R):5'- TGTCTGAGGAGAGGAGCCCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation