Incidental Mutation 'R5635:Pik3r4'
ID |
448662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
MMRRC Submission |
043286-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5635 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105545024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 168
(H168N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000186943]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065778
AA Change: H809N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: H809N
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
26 |
310 |
1.7e-5 |
PFAM |
Pfam:Pkinase
|
26 |
312 |
1.2e-18 |
PFAM |
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186943
AA Change: H168N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: H809N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: H809N
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
26 |
310 |
8.9e-7 |
PFAM |
Pfam:Pkinase
|
26 |
312 |
3.7e-23 |
PFAM |
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
Meta Mutation Damage Score |
0.0845 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
99% (90/91) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,094,273 (GRCm39) |
M53K |
possibly damaging |
Het |
Aldh3b3 |
C |
T |
19: 4,018,512 (GRCm39) |
T409I |
probably benign |
Het |
Ankrd13a |
C |
A |
5: 114,939,778 (GRCm39) |
H468Q |
possibly damaging |
Het |
Ap2a1 |
A |
C |
7: 44,573,325 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,259,085 (GRCm39) |
S671T |
possibly damaging |
Het |
C1ra |
G |
A |
6: 124,493,683 (GRCm39) |
C145Y |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Ccdc30 |
T |
C |
4: 119,216,871 (GRCm39) |
N123D |
possibly damaging |
Het |
Cdc20 |
A |
T |
4: 118,293,224 (GRCm39) |
V232E |
possibly damaging |
Het |
Cfap251 |
A |
T |
5: 123,460,635 (GRCm39) |
Q225L |
probably benign |
Het |
Cfap58 |
T |
A |
19: 47,971,981 (GRCm39) |
V637E |
possibly damaging |
Het |
Coq4 |
T |
A |
2: 29,678,367 (GRCm39) |
V24E |
possibly damaging |
Het |
Crim1 |
T |
A |
17: 78,623,070 (GRCm39) |
F423I |
probably damaging |
Het |
Crls1 |
T |
C |
2: 132,706,062 (GRCm39) |
V262A |
possibly damaging |
Het |
Crybb1 |
T |
C |
5: 112,405,425 (GRCm39) |
|
probably null |
Het |
Cutc |
T |
A |
19: 43,744,069 (GRCm39) |
N23K |
probably benign |
Het |
Cxcl10 |
T |
A |
5: 92,495,698 (GRCm39) |
I82F |
probably damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,738,124 (GRCm39) |
F60L |
possibly damaging |
Het |
Dhx9 |
A |
G |
1: 153,359,493 (GRCm39) |
M35T |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,925,360 (GRCm39) |
E1265G |
probably benign |
Het |
Dzank1 |
C |
G |
2: 144,325,327 (GRCm39) |
D548H |
probably damaging |
Het |
Eef2kmt |
A |
G |
16: 5,066,893 (GRCm39) |
V120A |
probably damaging |
Het |
Elp4 |
A |
G |
2: 105,644,609 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
T |
2: 20,811,846 (GRCm39) |
I1310F |
probably damaging |
Het |
Exoc6b |
A |
T |
6: 84,828,909 (GRCm39) |
F492I |
probably damaging |
Het |
F2rl2 |
A |
T |
13: 95,837,290 (GRCm39) |
I112F |
possibly damaging |
Het |
Farp1 |
T |
A |
14: 121,513,716 (GRCm39) |
I837N |
possibly damaging |
Het |
Fars2 |
A |
G |
13: 36,594,129 (GRCm39) |
E378G |
probably damaging |
Het |
Fgg |
A |
G |
3: 82,918,730 (GRCm39) |
T248A |
probably benign |
Het |
Flrt3 |
T |
A |
2: 140,502,420 (GRCm39) |
T403S |
probably damaging |
Het |
Fndc3b |
C |
T |
3: 27,596,080 (GRCm39) |
E170K |
probably damaging |
Het |
Gm17728 |
A |
G |
17: 9,641,202 (GRCm39) |
H104R |
probably benign |
Het |
H2ac21 |
C |
A |
3: 96,127,593 (GRCm39) |
T121K |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,313,603 (GRCm39) |
T1948A |
probably benign |
Het |
Hspa4l |
T |
A |
3: 40,700,177 (GRCm39) |
I23N |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,829 (GRCm39) |
V31A |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,834,454 (GRCm39) |
N627I |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 42,542,834 (GRCm39) |
|
probably benign |
Het |
Lrrc36 |
G |
A |
8: 106,184,205 (GRCm39) |
V480M |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,920,924 (GRCm39) |
N534K |
possibly damaging |
Het |
Mybpc3 |
C |
T |
2: 90,965,174 (GRCm39) |
T1081I |
probably benign |
Het |
Nfrkb |
T |
C |
9: 31,310,594 (GRCm39) |
S351P |
probably damaging |
Het |
Nme4 |
A |
T |
17: 26,313,205 (GRCm39) |
V43E |
probably damaging |
Het |
Notch1 |
C |
T |
2: 26,366,173 (GRCm39) |
E794K |
probably damaging |
Het |
Nufip1 |
A |
T |
14: 76,363,586 (GRCm39) |
K270M |
probably damaging |
Het |
Or10ak16 |
G |
T |
4: 118,750,832 (GRCm39) |
G184V |
probably benign |
Het |
Or1e30 |
G |
T |
11: 73,678,460 (GRCm39) |
R232L |
probably benign |
Het |
Or51b6 |
G |
A |
7: 103,555,845 (GRCm39) |
M66I |
probably benign |
Het |
Or5t5 |
A |
G |
2: 86,616,070 (GRCm39) |
|
probably null |
Het |
Or8g51 |
A |
G |
9: 38,609,455 (GRCm39) |
I73T |
possibly damaging |
Het |
Pcdhb15 |
T |
A |
18: 37,606,823 (GRCm39) |
Y18* |
probably null |
Het |
Pcdhb21 |
A |
T |
18: 37,646,970 (GRCm39) |
Y33F |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,701,686 (GRCm39) |
H772Q |
possibly damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,957,986 (GRCm39) |
S386P |
possibly damaging |
Het |
Plg |
A |
G |
17: 12,614,641 (GRCm39) |
H307R |
probably damaging |
Het |
Prdm9 |
A |
C |
17: 15,782,702 (GRCm39) |
D96E |
probably damaging |
Het |
Prmt8 |
A |
G |
6: 127,745,692 (GRCm39) |
S7P |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
Pxn |
A |
T |
5: 115,689,551 (GRCm39) |
Q279L |
probably benign |
Het |
Rarb |
A |
T |
14: 16,443,788 (GRCm38) |
C167S |
probably damaging |
Het |
Rps6kb2 |
T |
A |
19: 4,211,133 (GRCm39) |
I131F |
probably damaging |
Het |
Sec14l3 |
T |
A |
11: 4,021,484 (GRCm39) |
V219E |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,673,217 (GRCm39) |
T522A |
probably benign |
Het |
Slc1a6 |
T |
C |
10: 78,624,925 (GRCm39) |
V110A |
possibly damaging |
Het |
Slc38a11 |
T |
G |
2: 65,191,747 (GRCm39) |
|
probably null |
Het |
Snx13 |
T |
A |
12: 35,190,170 (GRCm39) |
D840E |
probably benign |
Het |
Sp100 |
C |
A |
1: 85,609,985 (GRCm39) |
|
probably benign |
Het |
Spc24 |
G |
T |
9: 21,668,686 (GRCm39) |
L104I |
probably damaging |
Het |
Surf4 |
T |
C |
2: 26,823,325 (GRCm39) |
N4D |
probably benign |
Het |
Tas2r131 |
A |
T |
6: 132,934,571 (GRCm39) |
D79E |
probably benign |
Het |
Tbc1d20 |
T |
C |
2: 152,153,381 (GRCm39) |
S304P |
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,566,287 (GRCm39) |
|
probably benign |
Het |
Tmem214 |
A |
G |
5: 31,028,861 (GRCm39) |
N150S |
probably damaging |
Het |
Trappc13 |
A |
T |
13: 104,286,606 (GRCm39) |
I217K |
probably benign |
Het |
Ttc41 |
T |
A |
10: 86,572,841 (GRCm39) |
C738S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,540,068 (GRCm39) |
Q25979R |
probably benign |
Het |
Tubb2b |
A |
T |
13: 34,312,180 (GRCm39) |
N204K |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,938,236 (GRCm39) |
M713K |
probably damaging |
Het |
Usp37 |
T |
C |
1: 74,534,970 (GRCm39) |
|
probably benign |
Het |
Vegfb |
T |
A |
19: 6,960,214 (GRCm39) |
*189C |
probably null |
Het |
Vmn2r82 |
A |
G |
10: 79,214,652 (GRCm39) |
N212D |
probably benign |
Het |
Vta1 |
A |
T |
10: 14,543,866 (GRCm39) |
|
probably null |
Het |
Xdh |
T |
G |
17: 74,220,870 (GRCm39) |
I620L |
possibly damaging |
Het |
Xpnpep3 |
A |
G |
15: 81,320,970 (GRCm39) |
Y283C |
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,504,791 (GRCm39) |
S609P |
probably benign |
Het |
|
Other mutations in Pik3r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01375:Pik3r4
|
APN |
9 |
105,521,803 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01617:Pik3r4
|
APN |
9 |
105,532,164 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01764:Pik3r4
|
APN |
9 |
105,562,321 (GRCm39) |
splice site |
probably benign |
|
IGL01817:Pik3r4
|
APN |
9 |
105,528,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01830:Pik3r4
|
APN |
9 |
105,522,154 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01905:Pik3r4
|
APN |
9 |
105,522,077 (GRCm39) |
nonsense |
probably null |
|
IGL01947:Pik3r4
|
APN |
9 |
105,563,349 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01985:Pik3r4
|
APN |
9 |
105,540,244 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02321:Pik3r4
|
APN |
9 |
105,521,677 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02389:Pik3r4
|
APN |
9 |
105,527,530 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02898:Pik3r4
|
APN |
9 |
105,527,605 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03037:Pik3r4
|
APN |
9 |
105,528,012 (GRCm39) |
missense |
probably damaging |
1.00 |
boteh
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
truth
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
verisimilitude
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02835:Pik3r4
|
UTSW |
9 |
105,549,905 (GRCm39) |
missense |
probably benign |
0.07 |
R0011:Pik3r4
|
UTSW |
9 |
105,521,836 (GRCm39) |
missense |
probably benign |
0.01 |
R0312:Pik3r4
|
UTSW |
9 |
105,563,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R0321:Pik3r4
|
UTSW |
9 |
105,525,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R0482:Pik3r4
|
UTSW |
9 |
105,546,244 (GRCm39) |
missense |
probably benign |
0.04 |
R0645:Pik3r4
|
UTSW |
9 |
105,546,386 (GRCm39) |
splice site |
probably benign |
|
R0690:Pik3r4
|
UTSW |
9 |
105,531,175 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0789:Pik3r4
|
UTSW |
9 |
105,562,366 (GRCm39) |
missense |
probably benign |
0.14 |
R0894:Pik3r4
|
UTSW |
9 |
105,544,970 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0988:Pik3r4
|
UTSW |
9 |
105,564,404 (GRCm39) |
missense |
probably damaging |
0.97 |
R1123:Pik3r4
|
UTSW |
9 |
105,540,328 (GRCm39) |
missense |
probably benign |
|
R1172:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1174:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1342:Pik3r4
|
UTSW |
9 |
105,528,100 (GRCm39) |
critical splice donor site |
probably null |
|
R1387:Pik3r4
|
UTSW |
9 |
105,521,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Pik3r4
|
UTSW |
9 |
105,564,443 (GRCm39) |
missense |
probably benign |
0.39 |
R1638:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Pik3r4
|
UTSW |
9 |
105,564,351 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1995:Pik3r4
|
UTSW |
9 |
105,546,364 (GRCm39) |
missense |
probably benign |
0.12 |
R2037:Pik3r4
|
UTSW |
9 |
105,527,534 (GRCm39) |
missense |
probably benign |
0.00 |
R2165:Pik3r4
|
UTSW |
9 |
105,549,984 (GRCm39) |
missense |
probably benign |
0.05 |
R4210:Pik3r4
|
UTSW |
9 |
105,527,957 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4515:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
R4632:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
R4732:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4733:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4940:Pik3r4
|
UTSW |
9 |
105,546,193 (GRCm39) |
missense |
probably benign |
0.20 |
R5120:Pik3r4
|
UTSW |
9 |
105,546,208 (GRCm39) |
missense |
probably benign |
0.30 |
R5169:Pik3r4
|
UTSW |
9 |
105,555,360 (GRCm39) |
missense |
probably benign |
0.14 |
R5183:Pik3r4
|
UTSW |
9 |
105,559,507 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5353:Pik3r4
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
R5463:Pik3r4
|
UTSW |
9 |
105,525,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R5763:Pik3r4
|
UTSW |
9 |
105,546,974 (GRCm39) |
missense |
probably benign |
0.01 |
R5830:Pik3r4
|
UTSW |
9 |
105,522,023 (GRCm39) |
nonsense |
probably null |
|
R6251:Pik3r4
|
UTSW |
9 |
105,531,247 (GRCm39) |
missense |
probably benign |
|
R6468:Pik3r4
|
UTSW |
9 |
105,562,389 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6611:Pik3r4
|
UTSW |
9 |
105,521,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R6642:Pik3r4
|
UTSW |
9 |
105,521,845 (GRCm39) |
missense |
probably benign |
0.11 |
R6821:Pik3r4
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
R7039:Pik3r4
|
UTSW |
9 |
105,554,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7144:Pik3r4
|
UTSW |
9 |
105,527,783 (GRCm39) |
missense |
probably damaging |
0.98 |
R7410:Pik3r4
|
UTSW |
9 |
105,527,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R7559:Pik3r4
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
R7561:Pik3r4
|
UTSW |
9 |
105,564,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7658:Pik3r4
|
UTSW |
9 |
105,521,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R7727:Pik3r4
|
UTSW |
9 |
105,547,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R7871:Pik3r4
|
UTSW |
9 |
105,540,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R7957:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8138:Pik3r4
|
UTSW |
9 |
105,546,234 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8686:Pik3r4
|
UTSW |
9 |
105,535,728 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8719:Pik3r4
|
UTSW |
9 |
105,559,394 (GRCm39) |
missense |
probably benign |
0.00 |
R9091:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
R9189:Pik3r4
|
UTSW |
9 |
105,547,038 (GRCm39) |
missense |
probably benign |
0.22 |
R9270:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
R9439:Pik3r4
|
UTSW |
9 |
105,528,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAACCTTCATCTGTTAGTCAGCC -3'
(R):5'- GGAGTCACTGCATTTCCGTG -3'
Sequencing Primer
(F):5'- TGTTAGTCAGCCTGCGAC -3'
(R):5'- GGAAGTGGGAAGGGTATTTACTAC -3'
|
Posted On |
2016-12-15 |