Incidental Mutation 'R4245:Actr1b'
ID |
320364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actr1b
|
Ensembl Gene |
ENSMUSG00000037351 |
Gene Name |
ARP1 actin-related protein 1B, centractin beta |
Synonyms |
2310066K23Rik, Arp1b |
MMRRC Submission |
041061-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R4245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36737195-36749051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36740911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 171
(Y171C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043951]
[ENSMUST00000159448]
[ENSMUST00000160084]
|
AlphaFold |
Q8R5C5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043951
AA Change: Y171C
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047326 Gene: ENSMUSG00000037351 AA Change: Y171C
Domain | Start | End | E-Value | Type |
ACTIN
|
9 |
376 |
9.61e-203 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159448
AA Change: Y127C
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124343 Gene: ENSMUSG00000037351 AA Change: Y127C
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
AA Change: Y127C
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125472 Gene: ENSMUSG00000037351 AA Change: Y127C
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
|
Meta Mutation Damage Score |
0.9054 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (47/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
Acacb |
A |
T |
5: 114,368,845 (GRCm39) |
T1688S |
probably damaging |
Het |
C8a |
A |
G |
4: 104,733,543 (GRCm39) |
V4A |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
Ccdc184 |
T |
A |
15: 98,066,750 (GRCm39) |
|
probably null |
Het |
Cdc23 |
T |
C |
18: 34,770,100 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,219,335 (GRCm39) |
N51S |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,505,920 (GRCm39) |
I460T |
probably benign |
Het |
Fen1 |
T |
A |
19: 10,177,731 (GRCm39) |
I238F |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5493 |
A |
G |
17: 22,966,199 (GRCm39) |
E28G |
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
Mpeg1 |
C |
A |
19: 12,440,272 (GRCm39) |
Q577K |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,348,047 (GRCm39) |
S564P |
probably damaging |
Het |
Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Ndufs6 |
A |
T |
13: 73,468,512 (GRCm39) |
D62E |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,604 (GRCm39) |
Y257H |
probably damaging |
Het |
Or7e178 |
T |
C |
9: 20,225,629 (GRCm39) |
I196V |
possibly damaging |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk2 |
C |
T |
15: 73,103,825 (GRCm39) |
G749D |
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,007,518 (GRCm39) |
D222V |
probably damaging |
Het |
Radil |
T |
C |
5: 142,529,546 (GRCm39) |
D50G |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
Sf3a1 |
C |
T |
11: 4,117,774 (GRCm39) |
R179C |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,721,161 (GRCm39) |
N1340D |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,928,685 (GRCm39) |
E309G |
probably damaging |
Het |
Tg |
T |
C |
15: 66,568,318 (GRCm39) |
V1335A |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
Vill |
T |
A |
9: 118,900,359 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,624 (GRCm39) |
D341G |
possibly damaging |
Het |
Wdr59 |
T |
C |
8: 112,216,996 (GRCm39) |
N272D |
possibly damaging |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zfp985 |
A |
G |
4: 147,667,396 (GRCm39) |
K88R |
probably damaging |
Het |
Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
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 |
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 |
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'- AGAGCTTGCTTTCATATCTTGGC -3'
(R):5'- TTATCTCCATGCAGGCCGTG -3'
Sequencing Primer
(F):5'- ATATCTTGGCCTCCCCAGC -3'
(R):5'- TTAGCCTGTGAGTGCCCCAAG -3'
|
Posted On |
2015-06-12 |