Incidental Mutation 'IGL02688:Phactr3'
ID |
303634 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phactr3
|
Ensembl Gene |
ENSMUSG00000027525 |
Gene Name |
phosphatase and actin regulator 3 |
Synonyms |
4930415A02Rik, 1500003N10Rik, scapinin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL02688
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
177760768-177980285 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 177920792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103065]
[ENSMUST00000103066]
[ENSMUST00000108915]
[ENSMUST00000108916]
[ENSMUST00000108917]
|
AlphaFold |
Q8BYK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103065
AA Change: D174G
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099354 Gene: ENSMUSG00000027525 AA Change: D174G
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
RPEL
|
52 |
77 |
2.08e0 |
SMART |
low complexity region
|
187 |
206 |
N/A |
INTRINSIC |
RPEL
|
360 |
385 |
5.1e-4 |
SMART |
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
RPEL
|
398 |
423 |
3.24e-6 |
SMART |
RPEL
|
436 |
461 |
9.82e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103066
AA Change: D214G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099355 Gene: ENSMUSG00000027525 AA Change: D214G
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
low complexity region
|
75 |
88 |
N/A |
INTRINSIC |
RPEL
|
92 |
117 |
2.08e0 |
SMART |
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
RPEL
|
400 |
425 |
5.1e-4 |
SMART |
low complexity region
|
427 |
437 |
N/A |
INTRINSIC |
RPEL
|
438 |
463 |
3.24e-6 |
SMART |
RPEL
|
476 |
501 |
9.82e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108915
AA Change: D215G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104543 Gene: ENSMUSG00000027525 AA Change: D215G
Domain | Start | End | E-Value | Type |
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
RPEL
|
93 |
118 |
2.08e0 |
SMART |
low complexity region
|
228 |
247 |
N/A |
INTRINSIC |
RPEL
|
401 |
426 |
5.1e-4 |
SMART |
low complexity region
|
428 |
438 |
N/A |
INTRINSIC |
RPEL
|
439 |
464 |
3.24e-6 |
SMART |
RPEL
|
477 |
502 |
9.82e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108916
AA Change: D210G
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104544 Gene: ENSMUSG00000027525 AA Change: D210G
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
RPEL
|
88 |
113 |
2.08e0 |
SMART |
low complexity region
|
223 |
242 |
N/A |
INTRINSIC |
RPEL
|
396 |
421 |
5.1e-4 |
SMART |
low complexity region
|
423 |
433 |
N/A |
INTRINSIC |
RPEL
|
434 |
459 |
3.24e-6 |
SMART |
RPEL
|
472 |
497 |
9.82e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108917
AA Change: D210G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104545 Gene: ENSMUSG00000027525 AA Change: D210G
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
RPEL
|
88 |
113 |
2.08e0 |
SMART |
low complexity region
|
223 |
242 |
N/A |
INTRINSIC |
RPEL
|
396 |
421 |
5.1e-4 |
SMART |
low complexity region
|
423 |
433 |
N/A |
INTRINSIC |
RPEL
|
436 |
458 |
2.74e-4 |
SMART |
RPEL
|
471 |
496 |
9.82e-6 |
SMART |
|
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 member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
C |
A |
8: 41,279,357 (GRCm39) |
R583S |
probably benign |
Het |
Bcl9l |
C |
T |
9: 44,416,560 (GRCm39) |
T211I |
possibly damaging |
Het |
C6 |
A |
G |
15: 4,827,802 (GRCm39) |
I724V |
probably benign |
Het |
Cacna2d4 |
T |
A |
6: 119,247,710 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,322,844 (GRCm39) |
E40G |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,483,631 (GRCm39) |
M3382R |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,235,033 (GRCm39) |
L3526P |
probably damaging |
Het |
Eya4 |
A |
G |
10: 23,035,008 (GRCm39) |
S116P |
probably benign |
Het |
Gabra4 |
T |
A |
5: 71,729,510 (GRCm39) |
E423D |
probably benign |
Het |
Ighv1-67 |
T |
G |
12: 115,567,643 (GRCm39) |
T90P |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,266,471 (GRCm39) |
T828A |
probably benign |
Het |
Nr5a2 |
A |
G |
1: 136,868,145 (GRCm39) |
|
probably null |
Het |
Nup214 |
C |
T |
2: 31,921,287 (GRCm39) |
P1237S |
probably benign |
Het |
Phf2 |
G |
T |
13: 48,959,315 (GRCm39) |
P897Q |
unknown |
Het |
Pla2r1 |
T |
C |
2: 60,285,545 (GRCm39) |
R690G |
probably damaging |
Het |
Ppargc1b |
A |
G |
18: 61,445,314 (GRCm39) |
S181P |
possibly damaging |
Het |
Sele |
A |
T |
1: 163,877,699 (GRCm39) |
I165F |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,141,625 (GRCm39) |
S1626P |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,959,285 (GRCm39) |
I1088T |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,775,927 (GRCm39) |
S69G |
probably damaging |
Het |
Trmt5 |
C |
A |
12: 73,328,232 (GRCm39) |
E324* |
probably null |
Het |
Ttll3 |
T |
C |
6: 113,376,700 (GRCm39) |
I360T |
probably benign |
Het |
Zfp277 |
A |
G |
12: 40,378,687 (GRCm39) |
V390A |
possibly damaging |
Het |
|
Other mutations in Phactr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01419:Phactr3
|
APN |
2 |
177,920,855 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01432:Phactr3
|
APN |
2 |
177,924,893 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01580:Phactr3
|
APN |
2 |
177,911,297 (GRCm39) |
splice site |
probably benign |
|
IGL02985:Phactr3
|
APN |
2 |
177,817,250 (GRCm39) |
missense |
probably benign |
|
PIT4151001:Phactr3
|
UTSW |
2 |
177,975,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Phactr3
|
UTSW |
2 |
177,924,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Phactr3
|
UTSW |
2 |
177,925,759 (GRCm39) |
missense |
probably benign |
0.14 |
R3110:Phactr3
|
UTSW |
2 |
177,920,810 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3112:Phactr3
|
UTSW |
2 |
177,920,810 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3122:Phactr3
|
UTSW |
2 |
177,973,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R4193:Phactr3
|
UTSW |
2 |
177,924,945 (GRCm39) |
missense |
probably damaging |
0.98 |
R4194:Phactr3
|
UTSW |
2 |
177,924,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4243:Phactr3
|
UTSW |
2 |
177,924,982 (GRCm39) |
splice site |
probably null |
|
R4245:Phactr3
|
UTSW |
2 |
177,924,982 (GRCm39) |
splice site |
probably null |
|
R4397:Phactr3
|
UTSW |
2 |
177,817,199 (GRCm39) |
intron |
probably benign |
|
R4433:Phactr3
|
UTSW |
2 |
177,924,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4581:Phactr3
|
UTSW |
2 |
177,924,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Phactr3
|
UTSW |
2 |
177,925,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R4830:Phactr3
|
UTSW |
2 |
177,925,811 (GRCm39) |
missense |
probably damaging |
0.98 |
R5045:Phactr3
|
UTSW |
2 |
177,973,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Phactr3
|
UTSW |
2 |
177,784,254 (GRCm39) |
missense |
probably benign |
0.38 |
R5461:Phactr3
|
UTSW |
2 |
177,920,694 (GRCm39) |
missense |
probably benign |
|
R5816:Phactr3
|
UTSW |
2 |
177,944,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R6276:Phactr3
|
UTSW |
2 |
177,920,812 (GRCm39) |
missense |
probably damaging |
0.99 |
R6668:Phactr3
|
UTSW |
2 |
177,974,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Phactr3
|
UTSW |
2 |
177,944,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Phactr3
|
UTSW |
2 |
177,975,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Phactr3
|
UTSW |
2 |
177,925,703 (GRCm39) |
missense |
probably benign |
0.19 |
R8009:Phactr3
|
UTSW |
2 |
177,974,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Phactr3
|
UTSW |
2 |
177,944,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Phactr3
|
UTSW |
2 |
177,897,935 (GRCm39) |
missense |
probably benign |
0.03 |
R8530:Phactr3
|
UTSW |
2 |
177,925,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9077:Phactr3
|
UTSW |
2 |
177,974,758 (GRCm39) |
splice site |
probably benign |
|
R9153:Phactr3
|
UTSW |
2 |
177,925,739 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9406:Phactr3
|
UTSW |
2 |
177,925,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R9676:Phactr3
|
UTSW |
2 |
177,925,837 (GRCm39) |
nonsense |
probably null |
|
R9721:Phactr3
|
UTSW |
2 |
177,898,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Phactr3
|
UTSW |
2 |
177,898,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Phactr3
|
UTSW |
2 |
177,975,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R9778:Phactr3
|
UTSW |
2 |
177,924,805 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1176:Phactr3
|
UTSW |
2 |
177,911,167 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2015-04-16 |