Incidental Mutation 'R0011:Pik3r4'
ID |
98984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
MMRRC Submission |
038306-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0011 (G1)
|
Quality Score |
80 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105521836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 134
(T134K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000188784]
[ENSMUST00000190358]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065778
AA Change: T134K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: T134K
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 benign
Transcript: ENSMUST00000188784
AA Change: T134K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000140988 Gene: ENSMUSG00000032571 AA Change: T134K
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
301 |
2.8e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190358
AA Change: T134K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139643 Gene: ENSMUSG00000032571 AA Change: T134K
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
174 |
2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191117
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: T134K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: T134K
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 |
0.1168 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
100% (59/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,240,422 (GRCm39) |
V253A |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
Bach2 |
G |
T |
4: 32,244,655 (GRCm39) |
|
probably benign |
Het |
Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,320,718 (GRCm39) |
I698T |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,382,903 (GRCm39) |
S2664P |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
Cyb5a |
T |
A |
18: 84,895,947 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
A |
T |
14: 87,103,844 (GRCm39) |
C847S |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,618,924 (GRCm39) |
K1648R |
probably damaging |
Het |
Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
Emilin2 |
C |
T |
17: 71,580,863 (GRCm39) |
G621E |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,545,900 (GRCm39) |
K228* |
probably null |
Het |
Epg5 |
T |
C |
18: 77,991,698 (GRCm39) |
C132R |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
G6pc2 |
C |
A |
2: 69,056,909 (GRCm39) |
|
probably benign |
Het |
Gm7361 |
C |
T |
5: 26,463,876 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
Hnrnpul1 |
T |
G |
7: 25,442,340 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
Insrr |
T |
C |
3: 87,716,923 (GRCm39) |
C688R |
possibly damaging |
Het |
Itgb2l |
T |
C |
16: 96,228,861 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
Klk1 |
C |
T |
7: 43,878,959 (GRCm39) |
T149I |
probably benign |
Het |
Mbd3l1 |
A |
G |
9: 18,395,863 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,252,938 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
Or8g52 |
T |
A |
9: 39,630,923 (GRCm39) |
N133K |
probably benign |
Het |
Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
Sema3e |
C |
T |
5: 14,194,025 (GRCm39) |
R85* |
probably null |
Het |
Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
Slc39a11 |
A |
T |
11: 113,138,659 (GRCm39) |
F279L |
probably benign |
Het |
Slc4a1 |
T |
C |
11: 102,247,936 (GRCm39) |
K353E |
possibly damaging |
Het |
Slc6a18 |
A |
T |
13: 73,813,738 (GRCm39) |
M515K |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,254,825 (GRCm39) |
I1225T |
probably benign |
Het |
Spidr |
A |
T |
16: 15,784,467 (GRCm39) |
W534R |
probably benign |
Het |
Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
Tnfrsf1b |
T |
G |
4: 144,949,536 (GRCm39) |
R297S |
possibly damaging |
Het |
Trim55 |
A |
G |
3: 19,725,163 (GRCm39) |
T227A |
probably benign |
Het |
Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
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 |
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 |
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'- TGAAAATCAGGCTCCACTCCGC -3'
(R):5'- GCTGATCTGACTGACTCACACACC -3'
Sequencing Primer
(F):5'- ACTCCGCCCAGAACTGC -3'
(R):5'- TACTCTAACTCGGTGGCGAAC -3'
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Posted On |
2014-01-10 |