Incidental Mutation 'R2191:Actn1'
| ID |
238129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R2191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 80218576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 736
(L736*)
|
| 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: L736*
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: L736*
| 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: L736*
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: L736*
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,796,266 (GRCm39) |
R926W |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
| Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,704 (GRCm39) |
Q475L |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
| Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,441 (GRCm39) |
D138G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,465 (GRCm39) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,756,528 (GRCm39) |
S700T |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
possibly 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 |
|
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'- ACCCAAGGACCAGGCTTATG -3'
(R):5'- TGTCCCTCCTGATGGTGATAC -3'
Sequencing Primer
(F):5'- CCGGTCAAAGTGGTTGAA -3'
(R):5'- CTGCCATAGGGGTCCTACAATTGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation