Incidental Mutation 'R0167:Actl11'
| ID |
24230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl11
|
| Ensembl Gene |
ENSMUSG00000066368 |
| Gene Name |
actin-like 11 |
| Synonyms |
4921517D21Rik |
| MMRRC Submission |
038443-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R0167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107805668-107809660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107806969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 431
(F431L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085073]
|
| AlphaFold |
Q9D5V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085073
AA Change: F431L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: F431L
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
C |
T |
17: 28,099,176 (GRCm39) |
T246M |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,003,185 (GRCm39) |
T407A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,642,497 (GRCm39) |
F168L |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,863,795 (GRCm39) |
S55R |
probably damaging |
Het |
| Cdh5 |
A |
C |
8: 104,863,367 (GRCm39) |
I426L |
possibly damaging |
Het |
| Clcn1 |
T |
C |
6: 42,263,770 (GRCm39) |
Y24H |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,019 (GRCm39) |
R271K |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,725,895 (GRCm39) |
G1978D |
probably damaging |
Het |
| Cpne2 |
T |
C |
8: 95,295,207 (GRCm39) |
|
probably benign |
Het |
| D630023F18Rik |
A |
G |
1: 65,156,340 (GRCm39) |
V51A |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dlk2 |
C |
A |
17: 46,613,530 (GRCm39) |
R262S |
possibly damaging |
Het |
| Dubr |
G |
T |
16: 50,553,007 (GRCm39) |
|
noncoding transcript |
Het |
| Elane |
T |
A |
10: 79,722,933 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
G |
2: 165,558,032 (GRCm39) |
S209R |
possibly damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,187,469 (GRCm39) |
S112L |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,151 (GRCm39) |
M2490K |
possibly damaging |
Het |
| Galnt14 |
T |
C |
17: 73,829,715 (GRCm39) |
T277A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,937,660 (GRCm39) |
N128S |
probably benign |
Het |
| H1f6 |
T |
C |
13: 23,879,886 (GRCm39) |
V13A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,876,368 (GRCm39) |
V461A |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,716,661 (GRCm39) |
V34A |
probably benign |
Het |
| Ift22 |
T |
C |
5: 136,940,745 (GRCm39) |
C137R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,256,002 (GRCm39) |
D4657G |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,504,014 (GRCm39) |
Q101L |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,532,521 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,019 (GRCm39) |
|
probably null |
Het |
| Or51aa5 |
A |
T |
7: 103,166,708 (GRCm39) |
Y294* |
probably null |
Het |
| Or5ac23 |
A |
T |
16: 59,149,337 (GRCm39) |
C178* |
probably null |
Het |
| Or9q2 |
T |
C |
19: 13,772,931 (GRCm39) |
T15A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,939,693 (GRCm39) |
|
probably null |
Het |
| Prep |
A |
G |
10: 45,034,326 (GRCm39) |
|
probably null |
Het |
| Prss1l |
T |
A |
6: 41,373,195 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,385,055 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
T |
A |
18: 11,793,979 (GRCm39) |
Y30* |
probably null |
Het |
| Rhbdd1 |
T |
C |
1: 82,320,505 (GRCm39) |
V163A |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,402,850 (GRCm39) |
N1830K |
probably damaging |
Het |
| Shc4 |
T |
G |
2: 125,564,933 (GRCm39) |
N122T |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,096,254 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,289,469 (GRCm39) |
L261Q |
probably damaging |
Het |
| St8sia1 |
A |
G |
6: 142,859,907 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,887,787 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,009,648 (GRCm39) |
V494A |
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,520,829 (GRCm39) |
F358I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,867 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,209,278 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
| Zfp804a |
T |
G |
2: 82,086,860 (GRCm39) |
F230V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCAATCTGAGTACCCTGCAAAG -3'
(R):5'- TGGCCTGGATAATGACCAAGCAGAC -3'
Sequencing Primer
(F):5'- CTGCAAAGAAGTGTCTAGTCTCC -3'
(R):5'- CAAGCAGACAGCGTATTATCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation