Incidental Mutation 'R0690:Pik3r4'
ID |
61352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
MMRRC Submission |
038875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0690 (G1)
|
Quality Score |
152 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105531175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 492
(T492K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000186943]
[ENSMUST00000188784]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065778
AA Change: T492K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: T492K
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: ENSMUST00000186943
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
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 |
noncoding transcript
Transcript: ENSMUST00000191117
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191268
AA Change: T492K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: T492K
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 |
0.2108 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
97% (87/90) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,860,634 (GRCm39) |
|
probably benign |
Het |
Abi3 |
T |
C |
11: 95,724,460 (GRCm39) |
|
probably benign |
Het |
Adam2 |
T |
C |
14: 66,295,095 (GRCm39) |
N250S |
probably damaging |
Het |
Agbl4 |
T |
A |
4: 111,514,585 (GRCm39) |
I532K |
probably benign |
Het |
Agrn |
T |
G |
4: 156,258,910 (GRCm39) |
E905A |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,846,742 (GRCm39) |
|
probably benign |
Het |
Aifm2 |
A |
G |
10: 61,562,231 (GRCm39) |
N89S |
probably benign |
Het |
Arsj |
C |
T |
3: 126,231,833 (GRCm39) |
T193I |
probably damaging |
Het |
Ascc2 |
T |
A |
11: 4,632,933 (GRCm39) |
V702E |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,528,019 (GRCm39) |
S181P |
probably damaging |
Het |
Bcl7a |
G |
A |
5: 123,490,003 (GRCm39) |
V56I |
possibly damaging |
Het |
Cd160 |
T |
A |
3: 96,713,102 (GRCm39) |
D54V |
probably damaging |
Het |
Celsr2 |
C |
A |
3: 108,322,293 (GRCm39) |
R173M |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,426,924 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,713,951 (GRCm39) |
T27I |
probably damaging |
Het |
Chaf1b |
T |
C |
16: 93,696,905 (GRCm39) |
|
probably benign |
Het |
Cldn8 |
C |
T |
16: 88,359,527 (GRCm39) |
V133M |
probably damaging |
Het |
Col2a1 |
A |
T |
15: 97,878,073 (GRCm39) |
V954E |
unknown |
Het |
Col6a4 |
T |
C |
9: 105,905,386 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,685 (GRCm39) |
M1779V |
probably benign |
Het |
Coq8b |
A |
G |
7: 26,941,674 (GRCm39) |
E253G |
probably benign |
Het |
Ctse |
T |
C |
1: 131,602,516 (GRCm39) |
|
probably benign |
Het |
Cyp2c29 |
T |
A |
19: 39,298,170 (GRCm39) |
N238K |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,723,848 (GRCm39) |
|
probably benign |
Het |
Dcc |
A |
T |
18: 71,942,275 (GRCm39) |
|
probably benign |
Het |
Dkk1 |
A |
G |
19: 30,526,745 (GRCm39) |
F12S |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,106,457 (GRCm39) |
V1760A |
probably benign |
Het |
Fam117b |
G |
A |
1: 59,997,512 (GRCm39) |
S288N |
possibly damaging |
Het |
Fam216a |
A |
T |
5: 122,505,709 (GRCm39) |
M110K |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,340,581 (GRCm39) |
I958N |
possibly damaging |
Het |
Gab1 |
T |
A |
8: 81,526,745 (GRCm39) |
N118Y |
probably damaging |
Het |
Gda |
T |
A |
19: 21,387,251 (GRCm39) |
I251L |
probably benign |
Het |
Gli2 |
C |
A |
1: 118,772,190 (GRCm39) |
R505L |
probably damaging |
Het |
Gm5093 |
A |
T |
17: 46,750,664 (GRCm39) |
I121N |
possibly damaging |
Het |
Gpnmb |
C |
T |
6: 49,024,949 (GRCm39) |
S327L |
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,812,503 (GRCm39) |
Y280N |
probably damaging |
Het |
Gria4 |
A |
G |
9: 4,427,071 (GRCm39) |
Y790H |
probably damaging |
Het |
Guf1 |
C |
A |
5: 69,723,695 (GRCm39) |
|
probably null |
Het |
H6pd |
T |
C |
4: 150,067,030 (GRCm39) |
E452G |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,294,120 (GRCm39) |
Y487* |
probably null |
Het |
Ifi30 |
T |
A |
8: 71,217,593 (GRCm39) |
|
probably benign |
Het |
Klf13 |
G |
A |
7: 63,587,819 (GRCm39) |
A159V |
possibly damaging |
Het |
Med11 |
T |
A |
11: 70,344,052 (GRCm39) |
M124K |
possibly damaging |
Het |
Myom3 |
A |
G |
4: 135,515,737 (GRCm39) |
|
probably benign |
Het |
Nat2 |
A |
T |
8: 67,954,456 (GRCm39) |
I189F |
probably damaging |
Het |
Nhlrc4 |
C |
G |
17: 26,162,658 (GRCm39) |
G30R |
probably damaging |
Het |
Nkx3-2 |
G |
A |
5: 41,919,470 (GRCm39) |
R173C |
probably damaging |
Het |
Nox3 |
T |
C |
17: 3,745,839 (GRCm39) |
N23S |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,646,991 (GRCm39) |
Y708F |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,777,661 (GRCm39) |
N409S |
probably benign |
Het |
Nucb2 |
T |
C |
7: 116,135,086 (GRCm39) |
|
probably benign |
Het |
Or13a26 |
T |
C |
7: 140,284,700 (GRCm39) |
F179L |
possibly damaging |
Het |
Or5be3 |
A |
G |
2: 86,864,226 (GRCm39) |
F113S |
probably damaging |
Het |
Or8b12 |
T |
C |
9: 37,657,513 (GRCm39) |
F28L |
probably benign |
Het |
Orai2 |
A |
T |
5: 136,190,453 (GRCm39) |
V52D |
probably damaging |
Het |
Pcyox1 |
A |
T |
6: 86,371,424 (GRCm39) |
M154K |
probably damaging |
Het |
Pmpca |
T |
A |
2: 26,281,109 (GRCm39) |
Y150N |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,803,820 (GRCm39) |
S446R |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,740,381 (GRCm39) |
I289T |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,716,081 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
G |
A |
3: 36,243,708 (GRCm39) |
T131M |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,400,838 (GRCm39) |
Y104C |
probably damaging |
Het |
Rad54l |
G |
T |
4: 115,956,947 (GRCm39) |
|
probably benign |
Het |
Rad9a |
A |
T |
19: 4,247,359 (GRCm39) |
|
probably null |
Het |
Slc1a5 |
A |
T |
7: 16,520,829 (GRCm39) |
M233L |
probably benign |
Het |
Slc47a2 |
C |
T |
11: 61,233,330 (GRCm39) |
V67I |
possibly damaging |
Het |
Slco1a5 |
T |
A |
6: 142,214,004 (GRCm39) |
Y39F |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,852,229 (GRCm39) |
V785A |
probably damaging |
Het |
Sp6 |
C |
T |
11: 96,912,370 (GRCm39) |
P28S |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,893,156 (GRCm39) |
|
probably null |
Het |
Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
St8sia1 |
A |
G |
6: 142,774,980 (GRCm39) |
W200R |
probably damaging |
Het |
Stxbp1 |
C |
A |
2: 32,690,707 (GRCm39) |
|
probably benign |
Het |
Syne1 |
A |
G |
10: 4,983,138 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
A |
3: 89,127,472 (GRCm39) |
I371N |
possibly damaging |
Het |
Tll1 |
C |
T |
8: 64,527,324 (GRCm39) |
S399N |
probably damaging |
Het |
Tmem209 |
A |
C |
6: 30,505,833 (GRCm39) |
C114G |
probably null |
Het |
Tmem25 |
C |
T |
9: 44,706,811 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,674,562 (GRCm39) |
I282T |
possibly damaging |
Het |
Trdmt1 |
T |
A |
2: 13,549,391 (GRCm39) |
H18L |
probably benign |
Het |
Trim63 |
A |
G |
4: 134,043,716 (GRCm39) |
T60A |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,475,502 (GRCm39) |
|
probably null |
Het |
Ubr2 |
A |
T |
17: 47,249,579 (GRCm39) |
I1591K |
probably damaging |
Het |
Use1 |
A |
T |
8: 71,819,709 (GRCm39) |
|
probably benign |
Het |
Zfp850 |
A |
T |
7: 27,684,642 (GRCm39) |
C35S |
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 |
|
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'- ACAGGCCCCATGTGTCATTACTTTG -3'
(R):5'- GCTCCTTCACTTTCCAAGAGAGTCAC -3'
Sequencing Primer
(F):5'- gggcctaatggtgacctg -3'
(R):5'- GAGAGTCACAAATGACAGCTTTTAC -3'
|
Posted On |
2013-07-30 |