Incidental Mutation 'IGL02266:Actl11'
| ID |
286905 |
| 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 # |
IGL02266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107805668-107809660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107808382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 902
(V902L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035700]
[ENSMUST00000085073]
[ENSMUST00000193533]
|
| AlphaFold |
Q9D5V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035700
|
| SMART Domains |
Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
286 |
4.21e-81 |
SMART |
|
low complexity region
|
332 |
385 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
392 |
425 |
3.43e-15 |
PROSPERO |
|
internal_repeat_1
|
416 |
449 |
3.43e-15 |
PROSPERO |
|
low complexity region
|
461 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085073
AA Change: V902L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: V902L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193668
|
| 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 |
|---|
| Abca12 |
G |
A |
1: 71,307,360 (GRCm39) |
Q1974* |
probably null |
Het |
| Adam11 |
T |
C |
11: 102,663,493 (GRCm39) |
V274A |
probably damaging |
Het |
| Akr1b8 |
A |
G |
6: 34,331,208 (GRCm39) |
I15V |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,314 (GRCm39) |
Q574L |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,999,300 (GRCm39) |
I238N |
possibly damaging |
Het |
| Crk |
C |
A |
11: 75,570,415 (GRCm39) |
R16S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,843,163 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,725 (GRCm39) |
N369S |
possibly damaging |
Het |
| Fam220a |
T |
C |
5: 143,549,326 (GRCm39) |
V246A |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,481 (GRCm39) |
F370I |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,977 (GRCm39) |
Q294P |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,237,888 (GRCm39) |
F204L |
probably damaging |
Het |
| Lrrc8c |
A |
C |
5: 105,756,114 (GRCm39) |
I630L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,162 (GRCm39) |
D407G |
possibly damaging |
Het |
| Or4f61 |
G |
A |
2: 111,922,588 (GRCm39) |
L153F |
probably benign |
Het |
| Or8k22 |
T |
A |
2: 86,163,323 (GRCm39) |
I126F |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,791,086 (GRCm39) |
|
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,126,201 (GRCm39) |
T812A |
probably damaging |
Het |
| Phtf2 |
T |
G |
5: 21,010,797 (GRCm39) |
K63Q |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,010 (GRCm39) |
H3456L |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,903,855 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,697 (GRCm39) |
V734I |
possibly damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,470,166 (GRCm39) |
N38S |
probably damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,611 (GRCm39) |
W368R |
probably damaging |
Het |
| Sidt1 |
T |
C |
16: 44,075,348 (GRCm39) |
D670G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,045,092 (GRCm39) |
|
probably benign |
Het |
| Tekt5 |
A |
T |
16: 10,196,906 (GRCm39) |
I315N |
probably benign |
Het |
| Trappc11 |
A |
C |
8: 47,958,766 (GRCm39) |
C42G |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,626,331 (GRCm39) |
|
noncoding transcript |
Het |
| Ubqlnl |
C |
A |
7: 103,798,754 (GRCm39) |
E248* |
probably null |
Het |
| Ulk4 |
G |
T |
9: 120,910,766 (GRCm39) |
T1086K |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,978,234 (GRCm39) |
D680E |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,039 (GRCm39) |
Y346H |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,525,007 (GRCm39) |
I47T |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,129 (GRCm39) |
V178A |
probably benign |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,653 (GRCm39) |
T1096A |
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 |
|
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 |
|
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