Incidental Mutation 'IGL02535:Actl11'
| ID |
297468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actl11
|
| Ensembl Gene |
ENSMUSG00000066368 |
| Gene Name |
actin-like 11 |
| Synonyms |
4921517D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107805668-107809660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107807136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 486
(D486E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085073]
|
| AlphaFold |
Q9D5V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085073
AA Change: D486E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: D486E
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,773,520 (GRCm39) |
N430D |
probably benign |
Het |
| Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
| Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
| Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
| Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,790 (GRCm39) |
E347G |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
| Fbxl2 |
T |
C |
9: 113,808,575 (GRCm39) |
E372G |
probably benign |
Het |
| Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
| Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
| Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
| Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
| Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
| Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
| P2rx2 |
T |
A |
5: 110,490,219 (GRCm39) |
T134S |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
| Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
| Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
| Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,667 (GRCm39) |
R294* |
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
| Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R3427:Actl11
|
UTSW |
9 |
107,806,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation