Incidental Mutation 'R3958:Actl9'
| ID |
310819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl9
|
| Ensembl Gene |
ENSMUSG00000092519 |
| Gene Name |
actin-like 9 |
| Synonyms |
1700029I08Rik |
| MMRRC Submission |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33651873-33653242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33652738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 266
(K266R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174088]
|
| AlphaFold |
Q8CG27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174088
AA Change: K266R
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: K266R
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
48 |
415 |
6.36e-112 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202215
AA Change: K290R
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
probably damaging |
Het |
|
| Other mutations in Actl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Actl9
|
APN |
17 |
33,653,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01990:Actl9
|
APN |
17 |
33,653,068 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02691:Actl9
|
APN |
17 |
33,652,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02930:Actl9
|
APN |
17 |
33,653,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nerva
|
UTSW |
17 |
33,652,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Actl9
|
UTSW |
17 |
33,653,172 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0523:Actl9
|
UTSW |
17 |
33,652,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Actl9
|
UTSW |
17 |
33,652,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Actl9
|
UTSW |
17 |
33,652,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Actl9
|
UTSW |
17 |
33,652,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Actl9
|
UTSW |
17 |
33,652,909 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4943:Actl9
|
UTSW |
17 |
33,652,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4971:Actl9
|
UTSW |
17 |
33,652,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Actl9
|
UTSW |
17 |
33,653,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5236:Actl9
|
UTSW |
17 |
33,653,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Actl9
|
UTSW |
17 |
33,652,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6127:Actl9
|
UTSW |
17 |
33,652,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6808:Actl9
|
UTSW |
17 |
33,652,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Actl9
|
UTSW |
17 |
33,652,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Actl9
|
UTSW |
17 |
33,652,014 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7663:Actl9
|
UTSW |
17 |
33,652,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Actl9
|
UTSW |
17 |
33,652,801 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9140:Actl9
|
UTSW |
17 |
33,652,170 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9224:Actl9
|
UTSW |
17 |
33,653,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0062:Actl9
|
UTSW |
17 |
33,652,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Actl9
|
UTSW |
17 |
33,652,075 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Actl9
|
UTSW |
17 |
33,652,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTTGTTGTGGACACC -3'
(R):5'- CTTGAGGAGGCTCTGTTCAG -3'
Sequencing Primer
(F):5'- CCAGTTGTTCAGGGTTACAAC -3'
(R):5'- GCTCTGTTCAGCCATGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation