Incidental Mutation 'R3427:Actl11'
| ID |
267923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl11
|
| Ensembl Gene |
ENSMUSG00000066368 |
| Gene Name |
actin-like 11 |
| Synonyms |
4921517D21Rik |
| MMRRC Submission |
040645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107805668-107809660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107806969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 431
(F431I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085073]
|
| AlphaFold |
Q9D5V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085073
AA Change: F431I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: F431I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
223 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
ACTIN
|
858 |
1207 |
4.26e-81 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb18 |
C |
T |
1: 89,896,315 (GRCm39) |
G242S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,163,411 (GRCm39) |
I582V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Bsph1 |
T |
C |
7: 13,206,168 (GRCm39) |
Y78H |
probably damaging |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,213,653 (GRCm39) |
V795E |
probably damaging |
Het |
| Crhr1 |
A |
G |
11: 104,064,419 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctbp2 |
A |
T |
7: 132,593,321 (GRCm39) |
H793Q |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,529,190 (GRCm39) |
M805V |
probably benign |
Het |
| Dctn3 |
T |
C |
4: 41,719,858 (GRCm39) |
K83E |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,480 (GRCm39) |
N156D |
unknown |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,569,900 (GRCm39) |
L237P |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,708 (GRCm39) |
F94S |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,842 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,873 (GRCm39) |
F1280S |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,924,238 (GRCm39) |
F151L |
probably benign |
Het |
| Nudc |
C |
T |
4: 133,261,568 (GRCm39) |
G239S |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,637,720 (GRCm39) |
K225E |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,857 (GRCm39) |
Y172C |
probably damaging |
Het |
| Plscr4 |
T |
C |
9: 92,370,797 (GRCm39) |
S255P |
probably damaging |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,123 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,113,775 (GRCm39) |
|
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Strip1 |
T |
C |
3: 107,524,138 (GRCm39) |
H593R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,783,666 (GRCm39) |
C603S |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,614,249 (GRCm39) |
R5Q |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
|
| Other mutations in Actl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Actl11
|
APN |
9 |
107,806,181 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01396:Actl11
|
APN |
9 |
107,805,964 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01622:Actl11
|
APN |
9 |
107,805,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01623:Actl11
|
APN |
9 |
107,805,775 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01660:Actl11
|
APN |
9 |
107,806,247 (GRCm39) |
missense |
probably benign |
|
|
IGL01912:Actl11
|
APN |
9 |
107,806,844 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02002:Actl11
|
APN |
9 |
107,806,529 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02266:Actl11
|
APN |
9 |
107,808,382 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02535:Actl11
|
APN |
9 |
107,807,136 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02692:Actl11
|
APN |
9 |
107,806,507 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02744:Actl11
|
APN |
9 |
107,807,061 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02864:Actl11
|
APN |
9 |
107,806,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03037:Actl11
|
APN |
9 |
107,807,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03085:Actl11
|
APN |
9 |
107,806,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0167:Actl11
|
UTSW |
9 |
107,806,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Actl11
|
UTSW |
9 |
107,806,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Actl11
|
UTSW |
9 |
107,808,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Actl11
|
UTSW |
9 |
107,808,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Actl11
|
UTSW |
9 |
107,809,135 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1694:Actl11
|
UTSW |
9 |
107,807,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Actl11
|
UTSW |
9 |
107,806,736 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2081:Actl11
|
UTSW |
9 |
107,807,396 (GRCm39) |
missense |
probably benign |
|
|
R2939:Actl11
|
UTSW |
9 |
107,808,409 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4812:Actl11
|
UTSW |
9 |
107,808,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4843:Actl11
|
UTSW |
9 |
107,806,691 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4972:Actl11
|
UTSW |
9 |
107,807,155 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4989:Actl11
|
UTSW |
9 |
107,808,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Actl11
|
UTSW |
9 |
107,808,934 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5320:Actl11
|
UTSW |
9 |
107,808,203 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5546:Actl11
|
UTSW |
9 |
107,806,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5810:Actl11
|
UTSW |
9 |
107,806,420 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6302:Actl11
|
UTSW |
9 |
107,806,772 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6412:Actl11
|
UTSW |
9 |
107,807,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6835:Actl11
|
UTSW |
9 |
107,807,761 (GRCm39) |
missense |
probably benign |
|
|
R6891:Actl11
|
UTSW |
9 |
107,806,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7195:Actl11
|
UTSW |
9 |
107,806,069 (GRCm39) |
nonsense |
probably null |
|
|
R7212:Actl11
|
UTSW |
9 |
107,805,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8478:Actl11
|
UTSW |
9 |
107,805,844 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8670:Actl11
|
UTSW |
9 |
107,805,959 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8683:Actl11
|
UTSW |
9 |
107,806,065 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9114:Actl11
|
UTSW |
9 |
107,808,509 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9233:Actl11
|
UTSW |
9 |
107,807,900 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9280:Actl11
|
UTSW |
9 |
107,808,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Actl11
|
UTSW |
9 |
107,805,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Actl11
|
UTSW |
9 |
107,808,121 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0024:Actl11
|
UTSW |
9 |
107,807,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Actl11
|
UTSW |
9 |
107,808,899 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCAGCTCTCATCCAGAC -3'
(R):5'- TTCCAGCTGAGAGACTGGAG -3'
Sequencing Primer
(F):5'- GCTCTCATCCAGACAAGCAG -3'
(R):5'- CAGAGGCTGGGGTGATCACTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation