Incidental Mutation 'R1519:Actn1'
| ID |
167312 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R1519 (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 80251852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 75
(E75G)
|
| 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: E75G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: E75G
| 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: E75G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: E75G
| 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: ENSMUST00000218235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220351
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
| Abhd5 |
T |
C |
9: 122,208,079 (GRCm39) |
|
probably null |
Het |
| Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,651 (GRCm39) |
N323K |
possibly damaging |
Het |
| Anks6 |
G |
A |
4: 47,027,152 (GRCm39) |
R689W |
probably damaging |
Het |
| Anxa2 |
T |
C |
9: 69,392,523 (GRCm39) |
I124T |
probably damaging |
Het |
| Aph1c |
T |
C |
9: 66,740,547 (GRCm39) |
T10A |
probably benign |
Het |
| Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,778,598 (GRCm39) |
R754H |
possibly damaging |
Het |
| Blmh |
A |
G |
11: 76,857,607 (GRCm39) |
Y147C |
probably damaging |
Het |
| C1galt1 |
C |
T |
6: 7,866,402 (GRCm39) |
L83F |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,130 (GRCm39) |
V1656A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,215,122 (GRCm39) |
Y1403N |
possibly damaging |
Het |
| Cic |
A |
T |
7: 24,993,235 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
A |
19: 4,200,583 (GRCm39) |
V200D |
possibly damaging |
Het |
| Csl |
T |
A |
10: 99,593,817 (GRCm39) |
E416V |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,938,257 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,399,875 (GRCm39) |
F266Y |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,838,016 (GRCm39) |
E1072G |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,026,031 (GRCm39) |
K3435N |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,772,587 (GRCm39) |
A3715V |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,845,536 (GRCm39) |
S236L |
unknown |
Het |
| Frs3 |
A |
G |
17: 48,013,903 (GRCm39) |
T199A |
probably benign |
Het |
| Fsd1 |
A |
G |
17: 56,300,870 (GRCm39) |
N243S |
probably benign |
Het |
| Gabra5 |
A |
C |
7: 57,058,641 (GRCm39) |
L369R |
probably benign |
Het |
| Gask1b |
A |
G |
3: 79,848,771 (GRCm39) |
N506D |
possibly damaging |
Het |
| Gins4 |
A |
G |
8: 23,724,792 (GRCm39) |
V54A |
probably benign |
Het |
| Gli1 |
T |
C |
10: 127,170,138 (GRCm39) |
E339G |
possibly damaging |
Het |
| Gm12185 |
A |
G |
11: 48,798,594 (GRCm39) |
V633A |
probably damaging |
Het |
| Gpr83 |
T |
A |
9: 14,779,493 (GRCm39) |
C182S |
probably null |
Het |
| Gspt1 |
A |
G |
16: 11,038,719 (GRCm39) |
V627A |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,427,040 (GRCm39) |
C722R |
probably benign |
Het |
| Jak1 |
C |
T |
4: 101,020,119 (GRCm39) |
R680Q |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,137 (GRCm39) |
V287A |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,484,368 (GRCm39) |
E366G |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,646,541 (GRCm39) |
N824I |
probably damaging |
Het |
| Lyrm7 |
T |
A |
11: 54,739,425 (GRCm39) |
H75L |
possibly damaging |
Het |
| Map4k1 |
A |
T |
7: 28,690,461 (GRCm39) |
Q351L |
probably benign |
Het |
| Matcap2 |
T |
G |
9: 22,341,671 (GRCm39) |
L114R |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,617 (GRCm39) |
I450T |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,465,373 (GRCm39) |
L955P |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,077,526 (GRCm39) |
K752R |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,438,062 (GRCm39) |
I70K |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,138,333 (GRCm39) |
M142T |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,408,391 (GRCm39) |
Y898C |
probably damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,623,945 (GRCm39) |
D425A |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,315,982 (GRCm39) |
L733* |
probably null |
Het |
| Prdm2 |
A |
T |
4: 142,862,153 (GRCm39) |
I379N |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,596 (GRCm38) |
Y436F |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,270,363 (GRCm39) |
D167G |
probably damaging |
Het |
| Rnf215 |
G |
T |
11: 4,085,451 (GRCm39) |
R60L |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,069 (GRCm39) |
V747I |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 141,985,705 (GRCm39) |
H779L |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,045,519 (GRCm39) |
K387* |
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,288,572 (GRCm39) |
Y568C |
possibly damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,386 (GRCm39) |
|
probably null |
Het |
| Slc32a1 |
T |
C |
2: 158,456,497 (GRCm39) |
L384P |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,241,025 (GRCm39) |
N454D |
probably benign |
Het |
| Spag8 |
T |
C |
4: 43,652,777 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Spata31e4 |
G |
A |
13: 50,854,443 (GRCm39) |
|
probably null |
Het |
| Spc25 |
T |
C |
2: 69,030,431 (GRCm39) |
I71V |
probably damaging |
Het |
| Tcte1 |
T |
A |
17: 45,846,178 (GRCm39) |
F261I |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,471,174 (GRCm39) |
K481N |
probably benign |
Het |
| Tll2 |
G |
T |
19: 41,074,839 (GRCm39) |
N908K |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,197,091 (GRCm39) |
V93A |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,408,953 (GRCm38) |
|
probably null |
Het |
| Topaz1 |
G |
A |
9: 122,596,076 (GRCm39) |
S949N |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,857,938 (GRCm39) |
T1180A |
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,852,419 (GRCm39) |
D548E |
probably benign |
Het |
| Trpv2 |
T |
A |
11: 62,480,652 (GRCm39) |
|
probably null |
Het |
| Ulbp3 |
A |
G |
10: 3,075,230 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r12 |
T |
A |
6: 57,136,540 (GRCm39) |
H212Q |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,884 (GRCm39) |
T782A |
possibly damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,623,876 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,053 (GRCm39) |
N626K |
probably damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,322 (GRCm39) |
S449G |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,933 (GRCm39) |
T403A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,023 (GRCm39) |
I2755V |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,729 (GRCm39) |
V153A |
probably benign |
Het |
| Zfp677 |
C |
A |
17: 21,617,499 (GRCm39) |
H185Q |
possibly damaging |
Het |
| Zfp947 |
C |
T |
17: 22,365,273 (GRCm39) |
V134I |
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 |
|
|
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'- TAAGAATGCTGCTTTGGCCCTCCC -3'
(R):5'- GCCTGCCTAGATGACAACTGCAAAC -3'
Sequencing Primer
(F):5'- tccaggatagctagggctac -3'
(R):5'- AGATGACAACTGCAAACATCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation