Incidental Mutation 'R7016:Actn1'
ID |
545330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn1
|
Ensembl Gene |
ENSMUSG00000015143 |
Gene Name |
actinin, alpha 1 |
Synonyms |
3110023F10Rik |
MMRRC Submission |
045117-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R7016 (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 80219742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 710
(M710L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
AlphaFold |
Q7TPR4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021554
AA Change: M710L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021554 Gene: ENSMUSG00000015143 AA Change: M710L
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: M710L
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127176 Gene: ENSMUSG00000015143 AA Change: M710L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (63/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,443,977 (GRCm39) |
D2G |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,300,583 (GRCm39) |
E960G |
unknown |
Het |
Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
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 |
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 |
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'- CAAGGCTCATTCAGTTCCAGC -3'
(R):5'- ACAAGACATCTCCTTCTGATGAGC -3'
Sequencing Primer
(F):5'- CTAGGGACCAGATGTGCATACTTG -3'
(R):5'- CAGGAGATTGGGAGGATTTCC -3'
|
Posted On |
2019-05-13 |