Incidental Mutation 'R1387:Pik3r4'
ID |
162436 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
MMRRC Submission |
039449-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1387 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105521490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 19
(Y19N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000188784]
[ENSMUST00000190358]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065778
AA Change: Y19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: Y19N
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 |
noncoding transcript
Transcript: ENSMUST00000187446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188784
AA Change: Y19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140988 Gene: ENSMUSG00000032571 AA Change: Y19N
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
301 |
2.8e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190358
AA Change: Y19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139643 Gene: ENSMUSG00000032571 AA Change: Y19N
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
174 |
2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191117
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191268
AA Change: Y19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: Y19N
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 |
0.7332 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.4%
|
Validation Efficiency |
99% (82/83) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610303G11Rik |
T |
A |
9: 98,068,812 (GRCm39) |
|
noncoding transcript |
Het |
4930447C04Rik |
C |
A |
12: 72,962,208 (GRCm39) |
R52L |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,632,085 (GRCm39) |
Q5002* |
probably null |
Het |
Acacb |
T |
C |
5: 114,338,573 (GRCm39) |
I761T |
probably benign |
Het |
Acap3 |
G |
T |
4: 155,983,937 (GRCm39) |
L134F |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,293,230 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,641,295 (GRCm39) |
V3278A |
possibly damaging |
Het |
Agxt2 |
T |
C |
15: 10,380,696 (GRCm39) |
Y196H |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,235,941 (GRCm39) |
V172A |
probably damaging |
Het |
Aqp8 |
A |
G |
7: 123,065,891 (GRCm39) |
I229V |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,700,853 (GRCm39) |
I812T |
probably benign |
Het |
Cacng8 |
T |
C |
7: 3,463,672 (GRCm39) |
S275P |
possibly damaging |
Het |
Catsperg1 |
T |
C |
7: 28,906,289 (GRCm39) |
Y138C |
probably damaging |
Het |
Ccdc93 |
T |
G |
1: 121,418,918 (GRCm39) |
L491R |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 47,084,848 (GRCm39) |
V1103A |
probably benign |
Het |
Col12a1 |
C |
T |
9: 79,588,657 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,750,138 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,182,414 (GRCm39) |
A6T |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,522,522 (GRCm39) |
S351C |
probably damaging |
Het |
Cyth1 |
A |
G |
11: 118,073,172 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,223,309 (GRCm39) |
|
probably benign |
Het |
Duoxa1 |
T |
A |
2: 122,134,468 (GRCm39) |
I262F |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,125,816 (GRCm39) |
D1930G |
probably benign |
Het |
Eeig1 |
T |
C |
2: 32,455,635 (GRCm39) |
S254P |
possibly damaging |
Het |
Eno1 |
C |
T |
4: 150,332,590 (GRCm39) |
|
probably benign |
Het |
Fam98a |
T |
A |
17: 75,845,264 (GRCm39) |
H494L |
unknown |
Het |
Fcamr |
C |
A |
1: 130,732,379 (GRCm39) |
T122K |
possibly damaging |
Het |
Foxq1 |
A |
G |
13: 31,743,288 (GRCm39) |
D130G |
probably damaging |
Het |
Glb1 |
T |
A |
9: 114,249,431 (GRCm39) |
W5R |
probably damaging |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gm5431 |
T |
A |
11: 48,785,842 (GRCm39) |
R178W |
possibly damaging |
Het |
Gys2 |
C |
T |
6: 142,407,009 (GRCm39) |
V116M |
probably benign |
Het |
Hif1a |
C |
T |
12: 73,989,066 (GRCm39) |
T651I |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,720,885 (GRCm39) |
Y3* |
probably null |
Het |
Kank3 |
A |
G |
17: 34,035,205 (GRCm39) |
N7S |
possibly damaging |
Het |
Kdm2b |
G |
T |
5: 123,018,331 (GRCm39) |
H981Q |
probably damaging |
Het |
Kdm6a |
C |
T |
X: 18,120,235 (GRCm39) |
|
probably benign |
Het |
Kif1a |
A |
T |
1: 92,983,672 (GRCm39) |
|
probably benign |
Het |
Knl1 |
T |
A |
2: 118,901,211 (GRCm39) |
S971T |
possibly damaging |
Het |
Lcn6 |
T |
C |
2: 25,567,149 (GRCm39) |
V50A |
possibly damaging |
Het |
Llgl2 |
G |
T |
11: 115,743,958 (GRCm39) |
V762F |
probably damaging |
Het |
Lpcat4 |
T |
C |
2: 112,075,021 (GRCm39) |
F342L |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,287,262 (GRCm39) |
G3725V |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,158 (GRCm39) |
T1188A |
unknown |
Het |
Mecp2 |
G |
A |
X: 73,079,394 (GRCm39) |
P362S |
possibly damaging |
Het |
Mideas |
C |
A |
12: 84,199,705 (GRCm39) |
R1005L |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,282,033 (GRCm39) |
F445Y |
possibly damaging |
Het |
Myo5b |
G |
T |
18: 74,777,272 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,116,805 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
C |
A |
15: 9,106,870 (GRCm39) |
L384I |
possibly damaging |
Het |
Napg |
A |
G |
18: 63,119,283 (GRCm39) |
I98V |
possibly damaging |
Het |
Ncoa1 |
G |
T |
12: 4,324,790 (GRCm39) |
N1041K |
probably benign |
Het |
Nmu |
A |
T |
5: 76,497,992 (GRCm39) |
C64* |
probably null |
Het |
Nobox |
T |
A |
6: 43,284,132 (GRCm39) |
K13M |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,091,848 (GRCm39) |
|
probably benign |
Het |
Nrg2 |
A |
G |
18: 36,329,792 (GRCm39) |
V141A |
probably damaging |
Het |
Or1b1 |
T |
G |
2: 36,994,880 (GRCm39) |
I261L |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,424,777 (GRCm39) |
I214V |
probably damaging |
Het |
Or55b4 |
T |
A |
7: 102,133,911 (GRCm39) |
I139L |
probably benign |
Het |
Phldb2 |
C |
T |
16: 45,646,357 (GRCm39) |
E71K |
possibly damaging |
Het |
Pkhd1 |
A |
C |
1: 20,625,447 (GRCm39) |
|
probably benign |
Het |
Pogk |
G |
T |
1: 166,227,707 (GRCm39) |
P148Q |
possibly damaging |
Het |
Pten |
G |
T |
19: 32,775,496 (GRCm39) |
A79S |
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,739,796 (GRCm39) |
V545E |
possibly damaging |
Het |
Qdpr |
G |
C |
5: 45,607,480 (GRCm39) |
|
probably benign |
Het |
Rhbdd3 |
T |
A |
11: 5,054,121 (GRCm39) |
H83Q |
probably damaging |
Het |
Rnf6 |
A |
G |
5: 146,148,055 (GRCm39) |
V321A |
probably benign |
Het |
Rtf1 |
T |
A |
2: 119,536,126 (GRCm39) |
|
probably null |
Het |
Serpina10 |
C |
T |
12: 103,594,500 (GRCm39) |
V240I |
probably benign |
Het |
Siah2 |
A |
G |
3: 58,598,935 (GRCm39) |
V101A |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,344,720 (GRCm39) |
K46R |
probably damaging |
Het |
Tcaf2 |
A |
C |
6: 42,601,512 (GRCm39) |
L849R |
probably damaging |
Het |
Upf3a |
T |
C |
8: 13,842,118 (GRCm39) |
F178S |
probably damaging |
Het |
Vmn1r218 |
G |
A |
13: 23,321,478 (GRCm39) |
G195D |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,695,521 (GRCm39) |
V297A |
probably damaging |
Het |
Vmn2r70 |
T |
A |
7: 85,207,969 (GRCm39) |
Q836L |
probably benign |
Het |
Zfp473 |
A |
G |
7: 44,382,365 (GRCm39) |
V655A |
probably benign |
Het |
Zic5 |
A |
G |
14: 122,696,897 (GRCm39) |
S573P |
unknown |
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 |
|
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 |
R5635:Pik3r4
|
UTSW |
9 |
105,545,024 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GACCGAGGCATACGGTACTTTTACG -3'
(R):5'- GGAGCCTGATTTTCAGTTCCTCCAG -3'
Sequencing Primer
(F):5'- cgaggtggaggctagagg -3'
(R):5'- AGTTCCTCCAGCTCCTGTTTATAAC -3'
|
Posted On |
2014-03-17 |