Incidental Mutation 'R3871:Phactr4'
ID |
276556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phactr4
|
Ensembl Gene |
ENSMUSG00000066043 |
Gene Name |
phosphatase and actin regulator 4 |
Synonyms |
C330013F19Rik, 3110001B12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132104560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 256
(T256A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084170]
[ENSMUST00000084249]
[ENSMUST00000102568]
[ENSMUST00000136711]
[ENSMUST00000152271]
|
AlphaFold |
Q501J7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084170
AA Change: T219A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081185 Gene: ENSMUSG00000066043 AA Change: T219A
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
88 |
103 |
N/A |
INTRINSIC |
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
low complexity region
|
157 |
182 |
N/A |
INTRINSIC |
low complexity region
|
194 |
233 |
N/A |
INTRINSIC |
low complexity region
|
254 |
264 |
N/A |
INTRINSIC |
low complexity region
|
298 |
322 |
N/A |
INTRINSIC |
low complexity region
|
471 |
481 |
N/A |
INTRINSIC |
low complexity region
|
488 |
497 |
N/A |
INTRINSIC |
Blast:RPEL
|
511 |
535 |
8e-7 |
BLAST |
RPEL
|
548 |
573 |
2.53e-8 |
SMART |
RPEL
|
586 |
611 |
2.17e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084249
AA Change: T256A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000081270 Gene: ENSMUSG00000066043 AA Change: T256A
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
69 |
N/A |
INTRINSIC |
RPEL
|
73 |
98 |
1.35e-3 |
SMART |
low complexity region
|
125 |
140 |
N/A |
INTRINSIC |
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
low complexity region
|
231 |
270 |
N/A |
INTRINSIC |
low complexity region
|
291 |
301 |
N/A |
INTRINSIC |
low complexity region
|
335 |
359 |
N/A |
INTRINSIC |
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
low complexity region
|
525 |
534 |
N/A |
INTRINSIC |
Blast:RPEL
|
548 |
572 |
9e-7 |
BLAST |
RPEL
|
585 |
610 |
2.53e-8 |
SMART |
RPEL
|
623 |
648 |
2.17e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102568
AA Change: T246A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099628 Gene: ENSMUSG00000066043 AA Change: T246A
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
RPEL
|
63 |
88 |
1.35e-3 |
SMART |
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
low complexity region
|
184 |
209 |
N/A |
INTRINSIC |
low complexity region
|
221 |
260 |
N/A |
INTRINSIC |
low complexity region
|
281 |
291 |
N/A |
INTRINSIC |
low complexity region
|
325 |
349 |
N/A |
INTRINSIC |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
low complexity region
|
515 |
524 |
N/A |
INTRINSIC |
Blast:RPEL
|
538 |
562 |
9e-7 |
BLAST |
RPEL
|
575 |
600 |
2.53e-8 |
SMART |
RPEL
|
613 |
638 |
2.17e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136711
|
SMART Domains |
Protein: ENSMUSP00000122194 Gene: ENSMUSG00000066043
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
69 |
N/A |
INTRINSIC |
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152271
AA Change: T219A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119767 Gene: ENSMUSG00000066043 AA Change: T219A
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
88 |
103 |
N/A |
INTRINSIC |
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
low complexity region
|
157 |
182 |
N/A |
INTRINSIC |
low complexity region
|
194 |
233 |
N/A |
INTRINSIC |
low complexity region
|
254 |
264 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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 (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality, exencephaly, neural tube defects, coloboma, and altered cell cycles. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
T |
A |
19: 20,602,117 (GRCm39) |
Y225* |
probably null |
Het |
Bard1 |
T |
C |
1: 71,114,099 (GRCm39) |
K294R |
probably benign |
Het |
Bcap29 |
A |
T |
12: 31,667,080 (GRCm39) |
S194T |
probably benign |
Het |
Ccdc40 |
G |
A |
11: 119,155,107 (GRCm39) |
V1116M |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,060,867 (GRCm39) |
D92G |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,674,463 (GRCm39) |
F197L |
probably benign |
Het |
Filip1l |
G |
T |
16: 57,333,649 (GRCm39) |
K147N |
probably damaging |
Het |
Hrnr |
T |
A |
3: 93,239,181 (GRCm39) |
S3140T |
unknown |
Het |
Igfn1 |
G |
T |
1: 135,896,574 (GRCm39) |
H1331N |
probably benign |
Het |
Kalrn |
C |
T |
16: 34,024,226 (GRCm39) |
|
probably null |
Het |
Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,748,902 (GRCm39) |
|
probably benign |
Het |
Mfng |
A |
G |
15: 78,640,821 (GRCm39) |
L308P |
probably damaging |
Het |
Nt5e |
C |
A |
9: 88,246,746 (GRCm39) |
N327K |
probably benign |
Het |
Or5m13 |
T |
G |
2: 85,748,926 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
Rab24 |
T |
C |
13: 55,468,992 (GRCm39) |
D63G |
probably damaging |
Het |
Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
Serpina3b |
A |
T |
12: 104,105,047 (GRCm39) |
I408F |
probably damaging |
Het |
Setx |
A |
G |
2: 29,035,753 (GRCm39) |
D746G |
probably damaging |
Het |
Sf3a2 |
A |
C |
10: 80,640,527 (GRCm39) |
|
probably benign |
Het |
Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
Snx9 |
C |
T |
17: 5,942,056 (GRCm39) |
P61L |
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,701 (GRCm39) |
K20E |
probably benign |
Het |
Tas2r122 |
A |
G |
6: 132,688,543 (GRCm39) |
S117P |
probably benign |
Het |
Tmem26 |
G |
A |
10: 68,614,562 (GRCm39) |
E326K |
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,781,380 (GRCm39) |
C789S |
probably null |
Het |
Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,248 (GRCm39) |
S335T |
possibly damaging |
Het |
Unc119b |
G |
A |
5: 115,268,567 (GRCm39) |
T106M |
probably damaging |
Het |
Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
Usp32 |
T |
C |
11: 84,971,982 (GRCm39) |
D129G |
probably null |
Het |
|
Other mutations in Phactr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Phactr4
|
APN |
4 |
132,098,303 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01106:Phactr4
|
APN |
4 |
132,098,116 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01962:Phactr4
|
APN |
4 |
132,091,086 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02382:Phactr4
|
APN |
4 |
132,098,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02466:Phactr4
|
APN |
4 |
132,104,483 (GRCm39) |
splice site |
probably benign |
|
IGL02891:Phactr4
|
APN |
4 |
132,114,334 (GRCm39) |
missense |
probably damaging |
1.00 |
P0027:Phactr4
|
UTSW |
4 |
132,098,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R0317:Phactr4
|
UTSW |
4 |
132,114,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0961:Phactr4
|
UTSW |
4 |
132,105,731 (GRCm39) |
missense |
probably benign |
|
R1435:Phactr4
|
UTSW |
4 |
132,104,559 (GRCm39) |
missense |
probably benign |
0.06 |
R1441:Phactr4
|
UTSW |
4 |
132,104,559 (GRCm39) |
missense |
probably benign |
0.06 |
R1443:Phactr4
|
UTSW |
4 |
132,104,559 (GRCm39) |
missense |
probably benign |
0.06 |
R1960:Phactr4
|
UTSW |
4 |
132,104,559 (GRCm39) |
missense |
probably benign |
0.06 |
R1961:Phactr4
|
UTSW |
4 |
132,104,559 (GRCm39) |
missense |
probably benign |
0.06 |
R2145:Phactr4
|
UTSW |
4 |
132,098,095 (GRCm39) |
missense |
probably damaging |
0.98 |
R3077:Phactr4
|
UTSW |
4 |
132,125,307 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R3423:Phactr4
|
UTSW |
4 |
132,097,058 (GRCm39) |
missense |
probably benign |
0.38 |
R3782:Phactr4
|
UTSW |
4 |
132,095,178 (GRCm39) |
splice site |
probably null |
|
R4427:Phactr4
|
UTSW |
4 |
132,114,352 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4672:Phactr4
|
UTSW |
4 |
132,098,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Phactr4
|
UTSW |
4 |
132,105,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R5264:Phactr4
|
UTSW |
4 |
132,098,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R5558:Phactr4
|
UTSW |
4 |
132,105,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Phactr4
|
UTSW |
4 |
132,114,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6953:Phactr4
|
UTSW |
4 |
132,104,662 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7210:Phactr4
|
UTSW |
4 |
132,085,582 (GRCm39) |
makesense |
probably null |
|
R7286:Phactr4
|
UTSW |
4 |
132,104,489 (GRCm39) |
critical splice donor site |
probably null |
|
R7823:Phactr4
|
UTSW |
4 |
132,088,930 (GRCm39) |
nonsense |
probably null |
|
R7826:Phactr4
|
UTSW |
4 |
132,105,752 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8696:Phactr4
|
UTSW |
4 |
132,091,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8841:Phactr4
|
UTSW |
4 |
132,092,884 (GRCm39) |
critical splice donor site |
probably null |
|
R9228:Phactr4
|
UTSW |
4 |
132,097,874 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGAGATGAGTTAGAAAAGTCTTTC -3'
(R):5'- TACAGCAAGGTCCGTCTCC -3'
Sequencing Primer
(F):5'- AAAGTCTTTCACAGCTGGGC -3'
(R):5'- GCAAGGTCCGTCTCCTCCAC -3'
|
Posted On |
2015-04-06 |