Incidental Mutation 'R1441:Phactr4'
| ID |
160997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phactr4
|
| Ensembl Gene |
ENSMUSG00000066043 |
| Gene Name |
phosphatase and actin regulator 4 |
| Synonyms |
C330013F19Rik, 3110001B12Rik |
| MMRRC Submission |
039496-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132083233-132149759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132104559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 256
(T256I)
|
| 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: T219I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: T219I
| 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: T256I
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: T256I
| 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: T246I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: T246I
| 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: T219I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: T219I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
| Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
| Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
| Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
| Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
| Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
| Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
| Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
| G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
| Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
| Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
| Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
| Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
| Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
| Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
| Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
| Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
| Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
| Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
| Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
| Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
| Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
| Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
| Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- tgcttgcttgcttTCTCAGTgaca -3'
(R):5'- TGGCTCTACCACCGTGACATCT -3'
Sequencing Primer
(F):5'- cgggagacagaggcagg -3'
(R):5'- ACCGTGACATCTGCTGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation