Incidental Mutation 'R4940:Pik3r4'
| ID |
383016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4940 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 105546193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 207
(H207D)
|
| 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: H848D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: H848D
| 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: ENSMUST00000122710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186943
AA Change: H207D
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: H848D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: H848D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,828,782 (GRCm39) |
T240A |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,931,917 (GRCm39) |
Y57H |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,420 (GRCm39) |
I641T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,560 (GRCm39) |
Y2410H |
probably damaging |
Het |
| Apbb2 |
C |
A |
5: 66,609,604 (GRCm39) |
L14F |
probably null |
Het |
| Arhgdia |
T |
C |
11: 120,470,061 (GRCm39) |
D204G |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,939 (GRCm39) |
M256K |
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,969,736 (GRCm39) |
Y610F |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,853,466 (GRCm39) |
D27E |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,453 (GRCm39) |
I893F |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,917,508 (GRCm39) |
H911R |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,143,714 (GRCm39) |
I2966F |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,885,495 (GRCm39) |
H134R |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,141,062 (GRCm39) |
P445L |
probably damaging |
Het |
| Chdh |
G |
T |
14: 29,754,809 (GRCm39) |
R273L |
possibly damaging |
Het |
| Clic3 |
T |
C |
2: 25,347,929 (GRCm39) |
V72A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 36,001,022 (GRCm39) |
D241V |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,908,314 (GRCm39) |
K605N |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,712,487 (GRCm39) |
F164I |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,380,844 (GRCm39) |
N446K |
probably damaging |
Het |
| Epb42 |
A |
T |
2: 120,864,932 (GRCm39) |
L53Q |
probably damaging |
Het |
| Extl2 |
G |
C |
3: 115,820,841 (GRCm39) |
K229N |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,275,051 (GRCm39) |
S617C |
probably damaging |
Het |
| Fscb |
C |
T |
12: 64,520,588 (GRCm39) |
V293I |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gm4978 |
A |
C |
9: 69,358,154 (GRCm39) |
|
probably benign |
Het |
| Gm6729 |
A |
G |
10: 86,376,252 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,932 (GRCm39) |
N293T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,117,470 (GRCm39) |
I142T |
probably benign |
Het |
| Irak2 |
G |
A |
6: 113,670,691 (GRCm39) |
V536I |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,387,890 (GRCm39) |
|
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,018,951 (GRCm39) |
S422P |
probably benign |
Het |
| Lair1 |
T |
A |
7: 4,031,948 (GRCm39) |
D53V |
probably benign |
Het |
| Lhx1 |
G |
T |
11: 84,410,735 (GRCm39) |
Y196* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,438 (GRCm39) |
T2329I |
unknown |
Het |
| Mag |
T |
C |
7: 30,608,625 (GRCm39) |
D163G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,958,708 (GRCm39) |
V459A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,178,944 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,060,131 (GRCm39) |
C2341S |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,361,095 (GRCm39) |
C221R |
probably damaging |
Het |
| Mtus1 |
T |
A |
8: 41,494,515 (GRCm39) |
H39L |
possibly damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,628,909 (GRCm39) |
C658R |
possibly damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,602 (GRCm39) |
V239A |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,964,567 (GRCm39) |
H245Y |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,529 (GRCm39) |
L356S |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,794,585 (GRCm39) |
T1859A |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,221,625 (GRCm39) |
V335E |
possibly damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,161,740 (GRCm39) |
T705A |
probably benign |
Het |
| Prmt7 |
T |
C |
8: 106,963,910 (GRCm39) |
V268A |
probably benign |
Het |
| Psd |
C |
T |
19: 46,310,856 (GRCm39) |
G398R |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,253,155 (GRCm39) |
V188A |
probably damaging |
Het |
| Rnf13 |
T |
A |
3: 57,703,627 (GRCm39) |
N110K |
probably damaging |
Het |
| Rnf170 |
C |
T |
8: 26,615,939 (GRCm39) |
Q77* |
probably null |
Het |
| Rrp8 |
A |
T |
7: 105,383,284 (GRCm39) |
Y327* |
probably null |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,150 (GRCm39) |
D228G |
probably damaging |
Het |
| Scgn |
T |
A |
13: 24,173,807 (GRCm39) |
T35S |
probably benign |
Het |
| Scyl3 |
C |
T |
1: 163,762,316 (GRCm39) |
P74S |
probably damaging |
Het |
| Sec61b |
T |
G |
4: 47,483,074 (GRCm39) |
S123A |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,597,899 (GRCm39) |
S32P |
possibly damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,110,447 (GRCm39) |
|
probably null |
Het |
| Sult2a2 |
T |
G |
7: 13,472,223 (GRCm39) |
V140G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,667 (GRCm39) |
S320T |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,141 (GRCm39) |
Y52H |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,300 (GRCm39) |
E183G |
probably null |
Het |
| Trip10 |
G |
T |
17: 57,570,017 (GRCm39) |
V561F |
possibly damaging |
Het |
| Ttc7 |
G |
T |
17: 87,614,386 (GRCm39) |
V184F |
probably benign |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unk |
A |
G |
11: 115,944,491 (GRCm39) |
E414G |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,705,517 (GRCm39) |
N365D |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,781 (GRCm39) |
I85K |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,303,891 (GRCm39) |
H1364Q |
possibly damaging |
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 |
|
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'- ACAGGTGTAGGTGACTAAGCAC -3'
(R):5'- TTGACAAAGGGACACAGATACC -3'
Sequencing Primer
(F):5'- TAAGTTGAGCAGGCCCATATC -3'
(R):5'- TACCAGCAGAGGACTCAGAGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation