Incidental Mutation 'PIT4151001:Phactr3'
| ID |
557006 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4151001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
177760768-177980285 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 177975861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 535
(E535D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103065]
[ENSMUST00000103066]
[ENSMUST00000108915]
[ENSMUST00000108916]
[ENSMUST00000108917]
|
| AlphaFold |
Q8BYK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103065
AA Change: E494D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: E494D
| 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 |
probably damaging
Transcript: ENSMUST00000103066
AA Change: E534D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: E534D
| 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: E535D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: E535D
| 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 |
probably damaging
Transcript: ENSMUST00000108916
AA Change: E530D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: E530D
| 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 |
probably damaging
Transcript: ENSMUST00000108917
AA Change: E529D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: E529D
| 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 |
- 1x: 92.7%
- 3x: 90.4%
- 10x: 84.6%
- 20x: 72.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,930,670 (GRCm39) |
L1389P |
probably damaging |
Het |
| Acot10 |
C |
T |
15: 20,666,684 (GRCm39) |
G19D |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,081 (GRCm39) |
V64I |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,603 (GRCm39) |
D15E |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,288 (GRCm39) |
Y129H |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,193 (GRCm39) |
T511I |
probably damaging |
Het |
| Casp9 |
C |
T |
4: 141,521,259 (GRCm39) |
R32* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,133,277 (GRCm39) |
E445G |
probably damaging |
Het |
| Cct8 |
T |
C |
16: 87,284,545 (GRCm39) |
E273G |
probably damaging |
Het |
| Chd5 |
G |
A |
4: 152,462,986 (GRCm39) |
V1380I |
probably damaging |
Het |
| Coro2b |
C |
T |
9: 62,336,286 (GRCm39) |
G272D |
probably damaging |
Het |
| Cyp4a10 |
C |
A |
4: 115,382,072 (GRCm39) |
H251Q |
probably damaging |
Het |
| Dgki |
A |
T |
6: 37,040,916 (GRCm39) |
H298Q |
probably benign |
Het |
| Dnmt3b |
T |
G |
2: 153,526,399 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
A |
G |
14: 119,160,200 (GRCm39) |
F3L |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,496,198 (GRCm39) |
S807P |
probably benign |
Het |
| Emc10 |
C |
T |
7: 44,142,627 (GRCm39) |
R105H |
|
Het |
| Enthd1 |
T |
C |
15: 80,336,937 (GRCm39) |
E499G |
probably damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Fer1l5 |
T |
A |
1: 36,450,728 (GRCm39) |
M1242K |
probably benign |
Het |
| Gm3415 |
A |
G |
5: 146,493,079 (GRCm39) |
R36G |
probably benign |
Het |
| Gm5797 |
C |
A |
14: 7,330,318 (GRCm38) |
M114I |
possibly damaging |
Het |
| Gmppa |
A |
T |
1: 75,418,468 (GRCm39) |
R284* |
probably null |
Het |
| Homer1 |
G |
C |
13: 93,485,724 (GRCm39) |
K118N |
probably damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Kcnc4 |
G |
A |
3: 107,366,019 (GRCm39) |
A63V |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,045 (GRCm39) |
I88N |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,379,831 (GRCm39) |
F9S |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,714 (GRCm39) |
|
probably null |
Het |
| Nox4 |
A |
T |
7: 86,954,097 (GRCm39) |
Y134F |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,237 (GRCm39) |
T73S |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,424 (GRCm39) |
L229P |
probably damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,386 (GRCm39) |
M258K |
probably damaging |
Het |
| Or5m8 |
T |
C |
2: 85,822,538 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8k22 |
G |
T |
2: 86,163,173 (GRCm39) |
H176N |
possibly damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,798 (GRCm39) |
V422L |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,653,157 (GRCm39) |
V275E |
probably damaging |
Het |
| Pde6h |
A |
T |
6: 136,938,185 (GRCm39) |
M53L |
possibly damaging |
Het |
| Pkn3 |
C |
A |
2: 29,980,539 (GRCm39) |
T810N |
probably damaging |
Het |
| Pnpla5 |
T |
C |
15: 84,002,827 (GRCm39) |
E252G |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,342,722 (GRCm39) |
C276* |
probably null |
Het |
| Psg17 |
A |
G |
7: 18,548,530 (GRCm39) |
S414P |
probably benign |
Het |
| Pzp |
T |
A |
6: 128,502,259 (GRCm39) |
Q30L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
| Ret |
T |
C |
6: 118,141,702 (GRCm39) |
D975G |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,713,235 (GRCm39) |
I209V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,879,918 (GRCm39) |
V2210D |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,237 (GRCm39) |
Q3165* |
probably null |
Het |
| Tmem64 |
A |
T |
4: 15,283,159 (GRCm39) |
I319F |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,808 (GRCm39) |
V115D |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,623 (GRCm39) |
T181A |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,334 (GRCm39) |
E749G |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,677 (GRCm39) |
T222I |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,485 (GRCm39) |
T473A |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,712 (GRCm39) |
V733A |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,723 (GRCm39) |
S125T |
probably benign |
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 |
|
|
IGL02688:Phactr3
|
APN |
2 |
177,920,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02985:Phactr3
|
APN |
2 |
177,817,250 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACTAGTGCAGGAAGGG -3'
(R):5'- AGATAATGGAGAGTGGTTTTGCATC -3'
Sequencing Primer
(F):5'- AAGGGTTGTCTGTCCCACTACAAC -3'
(R):5'- TACCTAAGAAAAACCTGAGTTGAGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation