Incidental Mutation 'R3423:Phactr4'
ID |
267109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phactr4
|
Ensembl Gene |
ENSMUSG00000066043 |
Gene Name |
phosphatase and actin regulator 4 |
Synonyms |
C330013F19Rik, 3110001B12Rik |
MMRRC Submission |
040641-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3423 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 132097058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 496
(D496E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084170]
[ENSMUST00000084249]
[ENSMUST00000102568]
[ENSMUST00000152271]
|
AlphaFold |
Q501J7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084170
AA Change: D496E
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000081185 Gene: ENSMUSG00000066043 AA Change: D496E
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: D533E
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000081270 Gene: ENSMUSG00000066043 AA Change: D533E
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: D523E
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099628 Gene: ENSMUSG00000066043 AA Change: D523E
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 |
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 |
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTAGACTGGCCTCCAACAG -3'
(R):5'- TCAGTCCTTTCCCCTGAAGAG -3'
Sequencing Primer
(F):5'- AACAGCCAGGGGACTCTGTG -3'
(R):5'- TCCCCTGAAGAGCCTCACTAATTC -3'
|
Posted On |
2015-02-18 |