Incidental Mutation 'R4843:Actl11'
| ID |
371997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl11
|
| Ensembl Gene |
ENSMUSG00000066368 |
| Gene Name |
actin-like 11 |
| Synonyms |
4921517D21Rik |
| MMRRC Submission |
042456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107805668-107809660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107806691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 338
(C338F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085073]
|
| AlphaFold |
Q9D5V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085073
AA Change: C338F
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: C338F
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
| Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
| AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
| Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Cdca2 |
G |
T |
14: 67,914,425 (GRCm39) |
P945T |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
| Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,071 (GRCm39) |
I148F |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,394,487 (GRCm39) |
|
probably benign |
Het |
| Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
| Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
| Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
| Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
| Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
| Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,157,368 (GRCm39) |
R1046L |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,155,073 (GRCm39) |
T149A |
probably damaging |
Het |
| Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
| Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
| Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
| Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably damaging |
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 |
|
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 |
|
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'- CGCTAAAGACCTGCCTCTTG -3'
(R):5'- AAGGGAATGCTTGCTGTAGGC -3'
Sequencing Primer
(F):5'- GACCTGCCTCTTGATCTAAGGAACG -3'
(R):5'- CTGTAGGCTCCTTGTAGGACC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation