Incidental Mutation 'R7698:Actn1'
ID |
593800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn1
|
Ensembl Gene |
ENSMUSG00000015143 |
Gene Name |
actinin, alpha 1 |
Synonyms |
3110023F10Rik |
MMRRC Submission |
045759-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
R7698 (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 C
at 80221311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 581
(T581A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000167327]
|
AlphaFold |
Q7TPR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021554
AA Change: T581A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021554 Gene: ENSMUSG00000015143 AA Change: T581A
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: T581A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127176 Gene: ENSMUSG00000015143 AA Change: T581A
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: 99.2%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630023A22Rik |
C |
A |
14: 33,774,570 (GRCm39) |
L140F |
unknown |
Het |
Ak9 |
T |
C |
10: 41,224,072 (GRCm39) |
L495S |
|
Het |
Aldh5a1 |
T |
C |
13: 25,095,731 (GRCm39) |
D462G |
probably damaging |
Het |
Amz2 |
A |
G |
11: 109,319,833 (GRCm39) |
D73G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,825,860 (GRCm39) |
Y361H |
probably benign |
Het |
Atp8b1 |
A |
G |
18: 64,704,093 (GRCm39) |
Y342H |
probably benign |
Het |
Atp8b5 |
C |
T |
4: 43,366,735 (GRCm39) |
T833I |
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,884,482 (GRCm39) |
I313T |
probably damaging |
Het |
Cdk18 |
T |
C |
1: 132,050,116 (GRCm39) |
T20A |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,394,269 (GRCm39) |
C479S |
probably benign |
Het |
Cfap221 |
C |
A |
1: 119,889,659 (GRCm39) |
E192* |
probably null |
Het |
Cfap44 |
C |
T |
16: 44,254,149 (GRCm39) |
H958Y |
probably damaging |
Het |
Cic |
A |
T |
7: 24,972,597 (GRCm39) |
Q776L |
possibly damaging |
Het |
Cldn17 |
C |
A |
16: 88,303,244 (GRCm39) |
G162* |
probably null |
Het |
Col19a1 |
T |
A |
1: 24,351,159 (GRCm39) |
Y748F |
probably benign |
Het |
Col27a1 |
C |
T |
4: 63,143,955 (GRCm39) |
P548S |
possibly damaging |
Het |
Cracdl |
T |
G |
1: 37,664,452 (GRCm39) |
E482A |
probably benign |
Het |
Ctsr |
T |
A |
13: 61,310,381 (GRCm39) |
M92L |
probably benign |
Het |
Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
Defa34 |
G |
T |
8: 22,156,645 (GRCm39) |
C91F |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,072,359 (GRCm39) |
V815I |
possibly damaging |
Het |
Dlgap4 |
C |
T |
2: 156,591,015 (GRCm39) |
Q734* |
probably null |
Het |
Dph1 |
A |
T |
11: 75,081,267 (GRCm39) |
S7T |
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,949,618 (GRCm39) |
V121A |
probably benign |
Het |
Dst |
G |
A |
1: 34,229,468 (GRCm39) |
G2354S |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,111,245 (GRCm39) |
L1453Q |
probably damaging |
Het |
Ecpas |
C |
G |
4: 58,832,660 (GRCm39) |
C900S |
unknown |
Het |
Exosc10 |
T |
A |
4: 148,642,955 (GRCm39) |
S11T |
probably benign |
Het |
Fetub |
A |
G |
16: 22,758,059 (GRCm39) |
T281A |
probably benign |
Het |
Flii |
A |
T |
11: 60,610,918 (GRCm39) |
W504R |
probably damaging |
Het |
Gm5093 |
T |
C |
17: 46,750,866 (GRCm39) |
R54G |
possibly damaging |
Het |
Gmcl1 |
T |
C |
6: 86,684,397 (GRCm39) |
D375G |
probably benign |
Het |
Hikeshi |
A |
T |
7: 89,572,889 (GRCm39) |
N101K |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,313,165 (GRCm39) |
V3458A |
probably damaging |
Het |
Hspa2 |
A |
G |
12: 76,452,083 (GRCm39) |
N259S |
possibly damaging |
Het |
Irf6 |
T |
C |
1: 192,844,075 (GRCm39) |
I110T |
probably damaging |
Het |
Kcnj8 |
T |
A |
6: 142,511,479 (GRCm39) |
H376L |
probably damaging |
Het |
Kdm6b |
G |
A |
11: 69,296,807 (GRCm39) |
P487S |
probably benign |
Het |
Lcp1 |
C |
A |
14: 75,443,651 (GRCm39) |
Y222* |
probably null |
Het |
Manea |
T |
C |
4: 26,327,763 (GRCm39) |
D426G |
probably damaging |
Het |
Map3k20 |
G |
T |
2: 72,195,025 (GRCm39) |
E101* |
probably null |
Het |
Map3k20 |
C |
G |
2: 72,268,658 (GRCm39) |
S555C |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myo6 |
C |
T |
9: 80,124,938 (GRCm39) |
P6S |
unknown |
Het |
Myoc |
A |
T |
1: 162,467,014 (GRCm39) |
Q61L |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,965,500 (GRCm39) |
M1183K |
probably benign |
Het |
Or52e7 |
T |
A |
7: 104,685,114 (GRCm39) |
H236Q |
probably benign |
Het |
Or5b114-ps1 |
T |
C |
19: 13,352,404 (GRCm39) |
F26S |
probably damaging |
Het |
Or5b21 |
T |
C |
19: 12,840,077 (GRCm39) |
S313P |
possibly damaging |
Het |
Or8b40 |
T |
A |
9: 38,027,188 (GRCm39) |
L37* |
probably null |
Het |
Osbpl11 |
C |
G |
16: 33,054,817 (GRCm39) |
N633K |
probably benign |
Het |
Pate7 |
T |
C |
9: 35,688,472 (GRCm39) |
M38V |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,684 (GRCm39) |
E493G |
probably damaging |
Het |
Phf20 |
T |
A |
2: 156,136,058 (GRCm39) |
W626R |
probably damaging |
Het |
Pkp2 |
C |
A |
16: 16,058,523 (GRCm39) |
Q402K |
probably benign |
Het |
Plch2 |
C |
T |
4: 155,087,244 (GRCm39) |
D336N |
possibly damaging |
Het |
Plk1 |
T |
C |
7: 121,768,481 (GRCm39) |
F535L |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 4,906,430 (GRCm39) |
E328D |
probably benign |
Het |
Prss44 |
G |
A |
9: 110,646,379 (GRCm39) |
V369M |
probably benign |
Het |
Rilp |
A |
G |
11: 75,401,798 (GRCm39) |
S193G |
probably benign |
Het |
Rusc2 |
C |
T |
4: 43,414,900 (GRCm39) |
Q69* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,776,201 (GRCm39) |
D1112G |
possibly damaging |
Het |
Smc6 |
A |
G |
12: 11,333,141 (GRCm39) |
R238G |
possibly damaging |
Het |
Spen |
A |
G |
4: 141,200,156 (GRCm39) |
S2824P |
probably damaging |
Het |
Stk4 |
T |
C |
2: 163,925,663 (GRCm39) |
M77T |
probably damaging |
Het |
Syne2 |
A |
T |
12: 75,995,838 (GRCm39) |
H2126L |
probably damaging |
Het |
Thsd1 |
C |
T |
8: 22,749,003 (GRCm39) |
R625* |
probably null |
Het |
Tle3 |
A |
T |
9: 61,320,138 (GRCm39) |
N522I |
probably damaging |
Het |
Tmcc1 |
C |
A |
6: 116,020,763 (GRCm39) |
E230* |
probably null |
Het |
Vmn2r90 |
T |
C |
17: 17,953,596 (GRCm39) |
S587P |
probably benign |
Het |
Wt1 |
A |
T |
2: 104,957,161 (GRCm39) |
Q7L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,300,306 (GRCm39) |
I2482V |
probably benign |
Het |
Zfpm2 |
A |
T |
15: 40,959,487 (GRCm39) |
I189F |
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 |
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'- TGGGCCAGATACCTCAAAGG -3'
(R):5'- TACTGTGTCTGAGGAGAGGAGC -3'
Sequencing Primer
(F):5'- AGTGAAGATGTCAACTTGGTCTAG -3'
(R):5'- TGTCTGAGGAGAGGAGCCCTTC -3'
|
Posted On |
2019-11-12 |