Incidental Mutation 'R6821:Pik3r4'
| ID |
537631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
044933-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105527805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 386
(L386Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000188784]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065778
AA Change: L386Q
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: L386Q
| 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: ENSMUST00000188784
|
| SMART Domains |
Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
301 |
2.8e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191268
AA Change: L386Q
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: L386Q
| 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 |
0.7730 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,277,268 (GRCm39) |
I417T |
probably benign |
Het |
| Adamts12 |
A |
C |
15: 11,152,134 (GRCm39) |
K208T |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,922 (GRCm39) |
L582Q |
probably benign |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Ano9 |
A |
T |
7: 140,687,169 (GRCm39) |
F357I |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,189,547 (GRCm39) |
V416A |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,853,659 (GRCm39) |
F1901C |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,855,480 (GRCm39) |
F506I |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,890,463 (GRCm39) |
L292H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,963,712 (GRCm39) |
V891A |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,731,072 (GRCm39) |
S650P |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,085,044 (GRCm39) |
N791Y |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| D630003M21Rik |
A |
C |
2: 158,046,694 (GRCm39) |
L761R |
probably damaging |
Het |
| Draxin |
G |
T |
4: 148,200,148 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Dtx3l |
A |
T |
16: 35,753,430 (GRCm39) |
L392Q |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,855 (GRCm39) |
S389P |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,359,582 (GRCm39) |
N757S |
possibly damaging |
Het |
| Fam228b |
T |
C |
12: 4,813,083 (GRCm39) |
I96V |
probably benign |
Het |
| Gars1 |
A |
G |
6: 55,056,323 (GRCm39) |
E728G |
probably benign |
Het |
| Gldn |
T |
C |
9: 54,246,054 (GRCm39) |
M535T |
probably benign |
Het |
| Gm47985 |
A |
G |
1: 151,058,787 (GRCm39) |
T143A |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,004 (GRCm39) |
T193A |
probably benign |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,438,719 (GRCm39) |
Y1315F |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,099,745 (GRCm39) |
D197G |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,060 (GRCm39) |
I2T |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,274,907 (GRCm39) |
E621G |
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,907 (GRCm39) |
P47S |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,138 (GRCm39) |
K177R |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,818,525 (GRCm39) |
F260S |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,077,723 (GRCm39) |
T573A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,376,845 (GRCm39) |
I3812N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,415,301 (GRCm39) |
N3403S |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,954,535 (GRCm39) |
Q343* |
probably null |
Het |
| Ocstamp |
A |
T |
2: 165,239,842 (GRCm39) |
S115T |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,793 (GRCm39) |
I69F |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,692,070 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,175 (GRCm39) |
N567I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,839,011 (GRCm39) |
V48E |
possibly damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,314,174 (GRCm39) |
S1182R |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,785 (GRCm39) |
K287E |
possibly damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,874 (GRCm39) |
L23* |
probably null |
Het |
| Rad54b |
A |
G |
4: 11,612,777 (GRCm39) |
D803G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,354,400 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
C |
T |
8: 95,362,059 (GRCm39) |
Q113* |
probably null |
Het |
| Siah2 |
T |
A |
3: 58,599,191 (GRCm39) |
S16C |
probably benign |
Het |
| Sirpa |
C |
A |
2: 129,472,017 (GRCm39) |
D481E |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,571,548 (GRCm39) |
D227E |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,220,151 (GRCm39) |
V438A |
probably benign |
Het |
| Spast |
A |
G |
17: 74,658,957 (GRCm39) |
E108G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,547 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Tanc2 |
T |
G |
11: 105,777,316 (GRCm39) |
|
probably null |
Het |
| Tgfbi |
T |
C |
13: 56,773,950 (GRCm39) |
I243T |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,685 (GRCm39) |
S522G |
possibly damaging |
Het |
| Trav14-3 |
A |
G |
14: 54,000,929 (GRCm39) |
I47V |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,760,906 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttl |
G |
A |
2: 128,910,835 (GRCm39) |
R73H |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,317,491 (GRCm39) |
T850I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,491 (GRCm39) |
Y140C |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,843,659 (GRCm39) |
R62G |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,577,331 (GRCm39) |
Y461N |
probably damaging |
Het |
| Wt1 |
T |
A |
2: 105,002,612 (GRCm39) |
F493I |
probably 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 |
|
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 |
|
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'- AGTTCGCCAAGGAAACCTTTC -3'
(R):5'- TATGCCGGGGAGAATATACTCTG -3'
Sequencing Primer
(F):5'- GGAAACCTTTCTCTCTGCAGATGAG -3'
(R):5'- TATTGACATCGTTGCGAGGAACC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation