Incidental Mutation 'P0027:Phactr4'
| ID |
8157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phactr4
|
| Ensembl Gene |
ENSMUSG00000066043 |
| Gene Name |
phosphatase and actin regulator 4 |
| Synonyms |
C330013F19Rik, 3110001B12Rik |
| MMRRC Submission |
038280-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0027 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 132098401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 252
(T252R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084170]
[ENSMUST00000084249]
[ENSMUST00000102568]
[ENSMUST00000152271]
|
| AlphaFold |
Q501J7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084170
AA Change: T252R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: T252R
| 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 damaging
Transcript: ENSMUST00000084249
AA Change: T289R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: T289R
| 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 damaging
Transcript: ENSMUST00000102568
AA Change: T279R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: T279R
| 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 |
noncoding transcript
Transcript: ENSMUST00000127516
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152271
AA Change: T252R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: T252R
| 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 |
|
| Meta Mutation Damage Score |
0.1552 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
| Validation Efficiency |
93% (53/57) |
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
| Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
| Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
| Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
| Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
| Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
| Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
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 |
|
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 |
|
|
R3871:Phactr4
|
UTSW |
4 |
132,104,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2012-11-20 |
Incidental Mutation