Incidental Mutation 'R2231:Actr1b'
| ID |
240023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr1b
|
| Ensembl Gene |
ENSMUSG00000037351 |
| Gene Name |
ARP1 actin-related protein 1B, centractin beta |
| Synonyms |
2310066K23Rik, Arp1b |
| MMRRC Submission |
040232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R2231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36737195-36749051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36739440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 336
(R336W)
|
| 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: R336W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: R336W
| 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: ENSMUST00000162684
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,359,925 (GRCm39) |
M1V |
probably null |
Het |
| Cblb |
T |
A |
16: 52,014,635 (GRCm39) |
S895T |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
T |
C |
16: 20,323,520 (GRCm39) |
Y424H |
probably benign |
Het |
| Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
| Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
| Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
| Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
| Trdmt1 |
A |
T |
2: 13,530,436 (GRCm39) |
F82I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly 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 |
|
IGL02555:Actr1b
|
APN |
1 |
36,740,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCACATCTTCTTGAAGGTATC -3'
(R):5'- TAAGACTGAGAACCTCTGGGGC -3'
Sequencing Primer
(F):5'- CACATCTTCTTGAAGGTATCCAGTG -3'
(R):5'- CTGGGGCAGAGGGTGTAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation