Incidental Mutation 'IGL02466:Phactr4'
| ID |
294608 |
| 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 # |
IGL02466
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 132104483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084170]
[ENSMUST00000084249]
[ENSMUST00000102568]
[ENSMUST00000136711]
[ENSMUST00000152271]
|
| AlphaFold |
Q501J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084170
|
| SMART Domains |
Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,527 (GRCm39) |
F2425L |
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,121,188 (GRCm39) |
Y418F |
probably benign |
Het |
| Adra1a |
G |
T |
14: 66,875,322 (GRCm39) |
C99F |
probably damaging |
Het |
| Aox3 |
C |
A |
1: 58,197,431 (GRCm39) |
H592Q |
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,495,644 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
T |
A |
9: 107,342,753 (GRCm39) |
I100N |
probably damaging |
Het |
| Cblif |
A |
T |
19: 11,729,596 (GRCm39) |
N185I |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col4a3 |
T |
A |
1: 82,647,913 (GRCm39) |
C475S |
unknown |
Het |
| Csnk2a2 |
T |
C |
8: 96,203,859 (GRCm39) |
D100G |
possibly damaging |
Het |
| Cstf2t |
G |
A |
19: 31,061,277 (GRCm39) |
G271E |
possibly damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,214,160 (GRCm39) |
R219G |
probably damaging |
Het |
| Homez |
A |
G |
14: 55,095,559 (GRCm39) |
F50L |
probably damaging |
Het |
| Hspa4l |
C |
T |
3: 40,707,657 (GRCm39) |
Q81* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,799,875 (GRCm39) |
D202G |
possibly damaging |
Het |
| Inava |
T |
C |
1: 136,144,173 (GRCm39) |
|
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,587,814 (GRCm39) |
D121V |
probably damaging |
Het |
| Or13a24 |
A |
G |
7: 140,154,684 (GRCm39) |
Y206C |
probably benign |
Het |
| Or4a27 |
T |
G |
2: 88,559,739 (GRCm39) |
D68A |
probably damaging |
Het |
| Or51h5 |
T |
A |
7: 102,577,723 (GRCm39) |
V296E |
possibly damaging |
Het |
| P2rx1 |
A |
T |
11: 72,900,410 (GRCm39) |
|
probably null |
Het |
| Pus10 |
C |
T |
11: 23,675,574 (GRCm39) |
T482I |
probably damaging |
Het |
| Scyl2 |
G |
T |
10: 89,488,871 (GRCm39) |
Y206* |
probably null |
Het |
| Sell |
G |
A |
1: 163,896,632 (GRCm39) |
|
probably null |
Het |
| Slfn10-ps |
C |
T |
11: 82,921,090 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh2 |
T |
C |
11: 77,307,233 (GRCm39) |
|
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,779,963 (GRCm39) |
M34V |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 19,993,631 (GRCm39) |
T3S |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,084 (GRCm39) |
I85K |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,887 (GRCm39) |
V2110A |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
G |
A |
7: 80,673,746 (GRCm39) |
G237R |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,717,950 (GRCm39) |
E115G |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,943,829 (GRCm39) |
T306M |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation