Incidental Mutation 'R5120:Pik3r4'
| ID |
392944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
042708-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105546208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 853
(S853P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000186943]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065778
AA Change: S853P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: S853P
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: S853P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: S853P
| 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 |
0.0710 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| Validation Efficiency |
100% (97/97) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,101,061 (GRCm39) |
H225R |
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,602,344 (GRCm39) |
I690F |
probably benign |
Het |
| Acp4 |
A |
T |
7: 43,906,395 (GRCm39) |
D52E |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,393,020 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,872 (GRCm39) |
E221G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,540 (GRCm39) |
T208A |
probably benign |
Het |
| Apoa4 |
T |
G |
9: 46,154,035 (GRCm39) |
I212S |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,964,211 (GRCm39) |
M1598K |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,650,680 (GRCm39) |
R209Q |
probably damaging |
Het |
| Ccdc171 |
C |
A |
4: 83,476,763 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
C |
3: 108,300,436 (GRCm39) |
P2875A |
probably benign |
Het |
| Cenpb |
A |
G |
2: 131,021,738 (GRCm39) |
V20A |
probably benign |
Het |
| Cfap61 |
A |
T |
2: 145,985,080 (GRCm39) |
K975* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,841 (GRCm39) |
S226G |
probably benign |
Het |
| Col9a2 |
G |
T |
4: 120,896,969 (GRCm39) |
A20S |
unknown |
Het |
| Crnn |
A |
T |
3: 93,056,203 (GRCm39) |
I330F |
probably benign |
Het |
| Csf3r |
C |
A |
4: 125,929,620 (GRCm39) |
P381Q |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,891 (GRCm39) |
Q104* |
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,315,607 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
C |
T |
9: 3,418,761 (GRCm39) |
Q183* |
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,398,940 (GRCm39) |
Y220H |
probably benign |
Het |
| Dhh |
T |
C |
15: 98,796,038 (GRCm39) |
Q39R |
probably benign |
Het |
| Dynlrb2 |
T |
A |
8: 117,242,437 (GRCm39) |
I89N |
possibly damaging |
Het |
| Dytn |
T |
C |
1: 63,662,202 (GRCm39) |
E645G |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,754,688 (GRCm39) |
T287A |
probably damaging |
Het |
| Eogt |
A |
G |
6: 97,111,276 (GRCm39) |
V195A |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,904,224 (GRCm39) |
P125Q |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,702,217 (GRCm39) |
V1815A |
probably benign |
Het |
| Gm5866 |
T |
C |
5: 52,740,224 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
C |
A |
13: 50,055,984 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat4 |
G |
T |
8: 23,670,218 (GRCm39) |
H270Q |
possibly damaging |
Het |
| Grik5 |
A |
G |
7: 24,710,065 (GRCm39) |
L890P |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,474,934 (GRCm39) |
N500S |
probably damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,048 (GRCm39) |
D173G |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,901,240 (GRCm39) |
I413F |
possibly damaging |
Het |
| Ighv1-52 |
G |
T |
12: 115,109,406 (GRCm39) |
H17N |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,424,516 (GRCm39) |
D270E |
possibly damaging |
Het |
| Kif16b |
A |
C |
2: 142,690,259 (GRCm39) |
N274K |
probably damaging |
Het |
| Klk1b11 |
C |
T |
7: 43,648,446 (GRCm39) |
T151I |
probably benign |
Het |
| Krtap13 |
A |
G |
16: 88,548,458 (GRCm39) |
F10S |
probably damaging |
Het |
| Large1 |
A |
T |
8: 73,585,969 (GRCm39) |
I379N |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,017,332 (GRCm39) |
H301R |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,021 (GRCm39) |
V252A |
probably benign |
Het |
| Lysmd3 |
T |
A |
13: 81,817,311 (GRCm39) |
I96N |
probably damaging |
Het |
| Mpeg1 |
C |
T |
19: 12,438,793 (GRCm39) |
Q84* |
probably null |
Het |
| Myoz1 |
C |
T |
14: 20,700,722 (GRCm39) |
G165D |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,413 (GRCm39) |
V312I |
probably benign |
Het |
| Ndufb7 |
T |
C |
8: 84,293,606 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
C |
T |
7: 101,626,644 (GRCm39) |
T10M |
probably damaging |
Het |
| Or10d1b |
T |
A |
9: 39,613,366 (GRCm39) |
H233L |
probably benign |
Het |
| Or1e30 |
A |
C |
11: 73,677,790 (GRCm39) |
I9L |
probably benign |
Het |
| Or2g7 |
A |
T |
17: 38,378,157 (GRCm39) |
I32F |
probably damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,903 (GRCm39) |
D84E |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,585 (GRCm39) |
|
noncoding transcript |
Het |
| Osmr |
A |
T |
15: 6,856,756 (GRCm39) |
S464T |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,925,149 (GRCm39) |
H718Y |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,864 (GRCm39) |
|
probably null |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Polr3gl |
T |
A |
3: 96,485,795 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,112,863 (GRCm39) |
R186Q |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,295,450 (GRCm39) |
V868A |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,004 (GRCm39) |
T852K |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,822,435 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,186,122 (GRCm39) |
G329C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,317,423 (GRCm39) |
T714A |
probably benign |
Het |
| Selenoo |
C |
A |
15: 88,978,508 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,003 (GRCm39) |
Q258R |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,420 (GRCm39) |
S226G |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,851,754 (GRCm39) |
K627E |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,677 (GRCm39) |
F1027I |
probably damaging |
Het |
| Ssh1 |
C |
G |
5: 114,095,459 (GRCm39) |
V228L |
possibly damaging |
Het |
| Sugp1 |
C |
A |
8: 70,501,317 (GRCm39) |
P65T |
probably benign |
Het |
| Tas2r106 |
T |
A |
6: 131,655,779 (GRCm39) |
N24I |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,272 (GRCm39) |
E534G |
possibly damaging |
Het |
| Tmem182 |
C |
T |
1: 40,894,061 (GRCm39) |
T192I |
possibly damaging |
Het |
| Traf7 |
T |
A |
17: 24,737,718 (GRCm39) |
K51* |
probably null |
Het |
| Trap1 |
C |
A |
16: 3,861,952 (GRCm39) |
R604L |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,877,447 (GRCm39) |
L179Q |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,670,973 (GRCm39) |
S264P |
probably damaging |
Het |
| Upk3bl |
T |
C |
5: 136,093,045 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,015,972 (GRCm39) |
Q2601L |
possibly damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,412 (GRCm39) |
Y281H |
probably damaging |
Het |
| Zfp286 |
A |
T |
11: 62,671,551 (GRCm39) |
M174K |
probably benign |
Het |
| Zmym1 |
T |
C |
4: 126,945,230 (GRCm39) |
|
probably null |
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 |
|
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'- AGGTGTAGGTGACTAAGCACTTC -3'
(R):5'- AGTACCTGTGGAGACGTTGAC -3'
Sequencing Primer
(F):5'- TAAGTTGAGCAGGCCCATATC -3'
(R):5'- CGTTGACAAAGGGACACAGATACC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation