Incidental Mutation 'R7039:Pik3r4'
| ID |
546954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
045139-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 105554089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 1082
(I1082M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065778
AA Change: I1082M
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: I1082M
| 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 |
possibly damaging
Transcript: ENSMUST00000191268
AA Change: I1082M
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: I1082M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
T |
4: 56,741,022 (GRCm39) |
L112Q |
probably damaging |
Het |
| Agap3 |
A |
C |
5: 24,688,399 (GRCm39) |
I396L |
probably benign |
Het |
| AI987944 |
G |
T |
7: 41,023,880 (GRCm39) |
S366R |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,215,714 (GRCm39) |
T1049A |
probably damaging |
Het |
| Ap1g2 |
A |
T |
14: 55,340,111 (GRCm39) |
L407* |
probably null |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,346,929 (GRCm39) |
K402E |
probably damaging |
Het |
| Cc2d2b |
A |
T |
19: 40,790,845 (GRCm39) |
D935V |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,961,217 (GRCm39) |
N1904D |
probably benign |
Het |
| Cfap74 |
G |
T |
4: 155,538,565 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,677,879 (GRCm39) |
T261A |
probably damaging |
Het |
| Cyp4a14 |
G |
A |
4: 115,348,278 (GRCm39) |
R400C |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,491,791 (GRCm39) |
V9I |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,483,422 (GRCm39) |
S196P |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,579,232 (GRCm39) |
L1115Q |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,287,561 (GRCm39) |
E654V |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,839,573 (GRCm39) |
R462Q |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,878,650 (GRCm39) |
V14I |
probably benign |
Het |
| Frmd5 |
A |
T |
2: 121,378,128 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Igkv6-13 |
T |
C |
6: 70,434,498 (GRCm39) |
S116G |
probably benign |
Het |
| Iscu |
T |
C |
5: 113,914,833 (GRCm39) |
V115A |
possibly damaging |
Het |
| Jade2 |
C |
A |
11: 51,719,186 (GRCm39) |
K253N |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,134,868 (GRCm39) |
|
probably null |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,958,699 (GRCm39) |
D462G |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,111,861 (GRCm39) |
N940S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,043 (GRCm39) |
M1L |
probably benign |
Het |
| Mga |
G |
A |
2: 119,763,159 (GRCm39) |
V1272I |
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Msto1 |
A |
C |
3: 88,818,697 (GRCm39) |
V287G |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,834,599 (GRCm39) |
D886E |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,826,946 (GRCm38) |
I48T |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,986,700 (GRCm38) |
R1013W |
probably damaging |
Het |
| Nipsnap3a |
T |
C |
4: 53,000,130 (GRCm39) |
V194A |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,267,367 (GRCm39) |
T766S |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,479,185 (GRCm39) |
S672T |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,095 (GRCm39) |
F26I |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,790 (GRCm39) |
I196N |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,283 (GRCm39) |
F104I |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,177 (GRCm39) |
I281K |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,457,315 (GRCm39) |
N1272K |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,093 (GRCm39) |
E945G |
probably benign |
Het |
| Peg3 |
C |
T |
7: 6,720,858 (GRCm39) |
D16N |
probably damaging |
Het |
| Plekhg5 |
T |
A |
4: 152,192,242 (GRCm39) |
M472K |
possibly damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,286,054 (GRCm39) |
D127G |
probably damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,239,853 (GRCm39) |
S908L |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,885,391 (GRCm39) |
N60S |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,616,226 (GRCm39) |
D697E |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,659,449 (GRCm39) |
H54L |
probably benign |
Het |
| Rhobtb3 |
G |
A |
13: 76,020,572 (GRCm39) |
R577* |
probably null |
Het |
| Safb2 |
T |
C |
17: 56,871,594 (GRCm39) |
E218G |
possibly damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,850 (GRCm39) |
R343H |
probably damaging |
Het |
| Snx24 |
G |
A |
18: 53,473,307 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
C |
5: 64,442,100 (GRCm39) |
F707L |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,603,074 (GRCm39) |
T829A |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,711 (GRCm39) |
Q248* |
probably null |
Het |
| Tcirg1 |
A |
T |
19: 3,946,666 (GRCm39) |
L729Q |
probably damaging |
Het |
| Thap3 |
A |
G |
4: 152,070,149 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,750,145 (GRCm39) |
M700K |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,909,662 (GRCm39) |
P56H |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,321,139 (GRCm39) |
S3P |
probably benign |
Het |
| Uchl3 |
C |
T |
14: 101,923,128 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,165 (GRCm39) |
E777D |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,363,082 (GRCm39) |
D567E |
probably damaging |
Het |
| Vps13c |
T |
G |
9: 67,845,045 (GRCm39) |
L2043R |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,398,396 (GRCm39) |
D4212A |
unknown |
Het |
| Zap70 |
C |
T |
1: 36,817,832 (GRCm39) |
P278S |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,321,478 (GRCm39) |
M461K |
possibly damaging |
Het |
| Zfat |
T |
G |
15: 68,052,211 (GRCm39) |
I528L |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,771,834 (GRCm39) |
V784G |
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 |
|
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 |
|
R6821:Pik3r4
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ATGACTAGGGTAGCAGCATTGG -3'
(R):5'- CTAAGCACATCCGAGTGTTCTG -3'
Sequencing Primer
(F):5'- CTGTTTCAGAAATGGTCTCGTATTTC -3'
(R):5'- ACATCCGAGTGTTCTGGGTCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation