Incidental Mutation 'IGL02555:Actr1b'
ID |
298473 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actr1b
|
Ensembl Gene |
ENSMUSG00000037351 |
Gene Name |
ARP1 actin-related protein 1B, centractin beta |
Synonyms |
2310066K23Rik, Arp1b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
IGL02555
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
36737195-36749051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36740828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 199
(R199C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043951]
[ENSMUST00000159448]
[ENSMUST00000160084]
|
AlphaFold |
Q8R5C5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043951
AA Change: R199C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047326 Gene: ENSMUSG00000037351 AA Change: R199C
Domain | Start | End | E-Value | Type |
ACTIN
|
9 |
376 |
9.61e-203 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159448
|
SMART Domains |
Protein: ENSMUSP00000124343 Gene: ENSMUSG00000037351
Domain | Start | End | E-Value | Type |
ACTIN
|
2 |
149 |
1.29e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159675
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160084
|
SMART Domains |
Protein: ENSMUSP00000125472 Gene: ENSMUSG00000037351
Domain | Start | End | E-Value | Type |
Pfam:Actin
|
2 |
142 |
2.3e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162684
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
Begain |
A |
G |
12: 109,000,115 (GRCm39) |
S219P |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
F13b |
T |
C |
1: 139,444,924 (GRCm39) |
C525R |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
Itgb8 |
C |
T |
12: 119,153,616 (GRCm39) |
V300M |
probably damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,734,152 (GRCm39) |
I417M |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
Prox2 |
C |
T |
12: 85,142,034 (GRCm39) |
W56* |
probably null |
Het |
Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
probably damaging |
Het |
|
Other mutations in Actr1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02453:Actr1b
|
APN |
1 |
36,741,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R1267:Actr1b
|
UTSW |
1 |
36,739,185 (GRCm39) |
missense |
probably benign |
0.11 |
R2064:Actr1b
|
UTSW |
1 |
36,741,168 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2231:Actr1b
|
UTSW |
1 |
36,739,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R4243:Actr1b
|
UTSW |
1 |
36,740,911 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4244:Actr1b
|
UTSW |
1 |
36,740,911 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4245:Actr1b
|
UTSW |
1 |
36,740,911 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5256:Actr1b
|
UTSW |
1 |
36,739,173 (GRCm39) |
missense |
probably benign |
0.31 |
R5973:Actr1b
|
UTSW |
1 |
36,741,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Actr1b
|
UTSW |
1 |
36,740,244 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7213:Actr1b
|
UTSW |
1 |
36,741,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Actr1b
|
UTSW |
1 |
36,748,900 (GRCm39) |
missense |
probably benign |
0.01 |
R8762:Actr1b
|
UTSW |
1 |
36,748,909 (GRCm39) |
missense |
probably benign |
0.03 |
R8768:Actr1b
|
UTSW |
1 |
36,740,588 (GRCm39) |
missense |
probably benign |
0.21 |
R9051:Actr1b
|
UTSW |
1 |
36,740,534 (GRCm39) |
missense |
probably benign |
0.00 |
R9334:Actr1b
|
UTSW |
1 |
36,739,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9372:Actr1b
|
UTSW |
1 |
36,741,561 (GRCm39) |
missense |
probably damaging |
0.98 |
R9765:Actr1b
|
UTSW |
1 |
36,741,677 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Actr1b
|
UTSW |
1 |
36,740,289 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |