Incidental Mutation 'R6042:Actn1'
| ID |
483627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
044210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R6042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80224023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 478
(K478M)
|
| 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: K478M
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: K478M
| 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: K478M
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: K478M
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
G |
T |
1: 72,713,213 (GRCm39) |
S474* |
probably null |
Het |
| Barx2 |
C |
A |
9: 31,758,199 (GRCm39) |
E246D |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,997 (GRCm39) |
Q757L |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,944,751 (GRCm39) |
F380L |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,318,317 (GRCm39) |
A655T |
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,898,451 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,370,838 (GRCm39) |
R2340Q |
possibly damaging |
Het |
| Ctsb |
G |
T |
14: 63,379,305 (GRCm39) |
D306Y |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,633,664 (GRCm39) |
Y349D |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,117,886 (GRCm39) |
L22S |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,966,239 (GRCm39) |
M2476I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,228,053 (GRCm39) |
E1882G |
probably damaging |
Het |
| Esrp1 |
T |
C |
4: 11,357,580 (GRCm39) |
K511E |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 16,289,113 (GRCm39) |
T137S |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,436,079 (GRCm39) |
M318L |
probably benign |
Het |
| Fpr-rs7 |
T |
A |
17: 20,333,477 (GRCm39) |
T338S |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,425,584 (GRCm39) |
M1T |
probably null |
Het |
| Grifin |
C |
A |
5: 140,549,311 (GRCm39) |
R135L |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,504,946 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
G |
4: 119,955,061 (GRCm39) |
Q1126E |
possibly damaging |
Het |
| Htr3a |
T |
A |
9: 48,815,999 (GRCm39) |
H146L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,707,311 (GRCm39) |
V3081E |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,387,636 (GRCm39) |
C531S |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,979,619 (GRCm39) |
D106G |
probably benign |
Het |
| Nectin2 |
C |
T |
7: 19,472,063 (GRCm39) |
A109T |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,503 (GRCm39) |
S43P |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,390 (GRCm39) |
V86E |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,558 (GRCm39) |
R856G |
probably damaging |
Het |
| Phpt1 |
T |
A |
2: 25,464,851 (GRCm39) |
M1L |
probably benign |
Het |
| Polr2m |
T |
C |
9: 71,391,080 (GRCm39) |
I41V |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,631 (GRCm39) |
D123E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,977 (GRCm39) |
V127A |
possibly damaging |
Het |
| Rgs7 |
G |
T |
1: 174,977,226 (GRCm39) |
T126K |
probably damaging |
Het |
| RP23-399J5.1 |
T |
C |
8: 71,542,571 (GRCm39) |
|
noncoding transcript |
Het |
| Rras |
A |
T |
7: 44,669,820 (GRCm39) |
D112V |
probably damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,424,646 (GRCm39) |
Y5* |
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,461,433 (GRCm39) |
F462L |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,684,052 (GRCm39) |
K1436* |
probably null |
Het |
| Snrnp27 |
A |
C |
6: 86,659,902 (GRCm39) |
S31A |
unknown |
Het |
| Sqstm1 |
A |
C |
11: 50,098,251 (GRCm39) |
F172V |
probably benign |
Het |
| Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
| Syt10 |
G |
A |
15: 89,725,824 (GRCm39) |
T50I |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,504 (GRCm39) |
Y477H |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,638,153 (GRCm39) |
T437S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,555,842 (GRCm39) |
D845N |
probably benign |
Het |
| Uqcc1 |
G |
T |
2: 155,763,564 (GRCm39) |
S36R |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,391 (GRCm39) |
V239A |
possibly damaging |
Het |
| Xpo7 |
T |
A |
14: 70,933,103 (GRCm39) |
Q263L |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,016 (GRCm39) |
K572E |
probably damaging |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
|
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'- CTACACTCACACATTCTGGTCAAAG -3'
(R):5'- TTCCAGTAGAGGCAGGGATG -3'
Sequencing Primer
(F):5'- CTCACACATTCTGGTCAAAGTGAGTC -3'
(R):5'- AGGAGAGCACTTTCAGTTCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation