Incidental Mutation 'IGL01962:Phactr4'
| ID |
182437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132091086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 577
(R577W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084170]
[ENSMUST00000084249]
[ENSMUST00000102568]
|
| AlphaFold |
Q501J7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084170
AA Change: R577W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: R577W
| 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 |
possibly damaging
Transcript: ENSMUST00000084249
AA Change: R614W
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: R614W
| 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 |
possibly damaging
Transcript: ENSMUST00000102568
AA Change: R604W
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: R604W
| 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
|
| 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 (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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,324,514 (GRCm39) |
F253S |
probably benign |
Het |
| AI429214 |
T |
A |
8: 37,461,383 (GRCm39) |
I177N |
probably damaging |
Het |
| Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
| Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
| Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
| Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,643,554 (GRCm39) |
F142L |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,401 (GRCm39) |
S365G |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
| Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
| Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
| Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
| Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
| Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
| Scmh1 |
A |
T |
4: 120,340,781 (GRCm39) |
|
probably benign |
Het |
| Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
possibly damaging |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation