Incidental Mutation 'R9520:Actn1'
| ID |
718842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R9520 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80240417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 223
(D223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
| AlphaFold |
Q7TPR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021554
AA Change: D223E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: D223E
| 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: D223E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: D223E
| 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: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Ackr3 |
T |
A |
1: 90,141,971 (GRCm39) |
Y143* |
probably null |
Het |
| Apcdd1 |
C |
T |
18: 63,083,190 (GRCm39) |
T340I |
possibly damaging |
Het |
| B4galnt1 |
G |
A |
10: 127,006,580 (GRCm39) |
E375K |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,651,799 (GRCm39) |
S127T |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,487,318 (GRCm39) |
D167G |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,012,736 (GRCm39) |
N270K |
possibly damaging |
Het |
| Cep131 |
A |
G |
11: 119,968,157 (GRCm39) |
V128A |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,682,135 (GRCm39) |
S154P |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,625,121 (GRCm39) |
E320G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,079,954 (GRCm39) |
L755* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,414,763 (GRCm39) |
L377Q |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,281,413 (GRCm39) |
D498V |
probably damaging |
Het |
| Csad |
A |
G |
15: 102,097,102 (GRCm39) |
M1T |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,561,608 (GRCm39) |
F1323L |
|
Het |
| Dennd2c |
A |
T |
3: 103,044,484 (GRCm39) |
Q355L |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,750,842 (GRCm39) |
S475N |
possibly damaging |
Het |
| Foxi3 |
A |
G |
6: 70,937,676 (GRCm39) |
S303G |
probably damaging |
Het |
| Glra1 |
G |
C |
11: 55,405,897 (GRCm39) |
F372L |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,262,637 (GRCm39) |
E858G |
probably benign |
Het |
| Gm7168 |
T |
A |
17: 14,169,506 (GRCm39) |
V291D |
probably benign |
Het |
| Gpr15lg |
T |
A |
14: 36,829,343 (GRCm39) |
T47S |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,399 (GRCm39) |
Y1049C |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,230 (GRCm39) |
L24P |
|
Het |
| Guca1a |
T |
A |
17: 47,711,335 (GRCm39) |
I4F |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,080,375 (GRCm39) |
I157V |
possibly damaging |
Het |
| Hectd3 |
T |
A |
4: 116,857,882 (GRCm39) |
M605K |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,371,996 (GRCm39) |
N32K |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,972 (GRCm39) |
V337D |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,451 (GRCm39) |
T190S |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,393,869 (GRCm39) |
R622G |
probably benign |
Het |
| Lce1a1 |
A |
T |
3: 92,554,109 (GRCm39) |
C122S |
unknown |
Het |
| Lrfn4 |
C |
T |
19: 4,664,237 (GRCm39) |
R99H |
probably damaging |
Het |
| Lsm1 |
T |
A |
8: 26,283,744 (GRCm39) |
V52E |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,079,631 (GRCm39) |
V1783I |
unknown |
Het |
| Mast4 |
T |
C |
13: 102,925,532 (GRCm39) |
K464R |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,304,555 (GRCm39) |
D115G |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,441,131 (GRCm39) |
H507Q |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,497,705 (GRCm39) |
M956L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,753 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,146,381 (GRCm39) |
I140V |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,804,709 (GRCm39) |
L144P |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,889,051 (GRCm39) |
V198A |
probably damaging |
Het |
| Or8d2b |
C |
T |
9: 38,789,039 (GRCm39) |
T189I |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,997,854 (GRCm39) |
V308M |
probably damaging |
Het |
| Phip |
C |
T |
9: 82,753,437 (GRCm39) |
R1769K |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,906,822 (GRCm39) |
C635S |
|
Het |
| Ppp4r4 |
A |
G |
12: 103,500,378 (GRCm39) |
I58V |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,456,289 (GRCm39) |
Y170C |
probably damaging |
Het |
| Rnf145 |
A |
T |
11: 44,452,336 (GRCm39) |
E438D |
possibly damaging |
Het |
| Rnf207 |
T |
C |
4: 152,396,234 (GRCm39) |
Y510C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,101,903 (GRCm39) |
C111Y |
probably damaging |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Sec23a |
T |
G |
12: 59,031,974 (GRCm39) |
I448L |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,843,227 (GRCm39) |
Y492C |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,268,181 (GRCm39) |
K555E |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,724,696 (GRCm39) |
S372P |
probably damaging |
Het |
| Tgm1 |
A |
G |
14: 55,942,296 (GRCm39) |
F685S |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,455 (GRCm39) |
T350A |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,830,066 (GRCm39) |
Y28* |
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,993 (GRCm39) |
I564L |
probably benign |
Het |
| Wdr26 |
G |
T |
1: 181,036,587 (GRCm39) |
T183K |
probably benign |
Het |
| Yjefn3 |
A |
T |
8: 70,341,969 (GRCm39) |
Y97N |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,104 (GRCm39) |
D993E |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,742,012 (GRCm39) |
Q82R |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,044 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp648 |
A |
G |
1: 154,081,221 (GRCm39) |
D460G |
probably benign |
Het |
| Zfp760 |
T |
G |
17: 21,941,036 (GRCm39) |
N70K |
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 |
|
|
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 |
|
R9526:Actn1
|
UTSW |
12 |
80,230,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACTTGCTCTATGCTGCTTGC -3'
(R):5'- CTAGAACCTGAGAAGGGCTG -3'
Sequencing Primer
(F):5'- CGTGCTGTCAGCTAGTGC -3'
(R):5'- CCTGAGAAGGGCTGGTACACAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation