Incidental Mutation 'R5183:Pik3r4'
| ID |
397682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
042762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5183 (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 105559507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1200
(V1200A)
|
| 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: V1200A
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: V1200A
| 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: ENSMUST00000187573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189691
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191268
AA Change: V1200A
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: V1200A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214254
|
| Meta Mutation Damage Score |
0.2799 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,171 (GRCm39) |
D8E |
probably damaging |
Het |
| Abca3 |
T |
G |
17: 24,593,427 (GRCm39) |
S275A |
probably benign |
Het |
| Adk |
A |
G |
14: 21,290,599 (GRCm39) |
N155S |
probably damaging |
Het |
| Aqp11 |
T |
C |
7: 97,386,963 (GRCm39) |
T78A |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,241,556 (GRCm39) |
V1455A |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,560,061 (GRCm39) |
I368F |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,371,835 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,759 (GRCm39) |
D2013G |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,408,558 (GRCm39) |
V1332A |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,299,832 (GRCm39) |
S1172P |
probably damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,235 (GRCm39) |
D155E |
probably benign |
Het |
| Coq7 |
T |
A |
7: 118,127,490 (GRCm39) |
|
probably benign |
Het |
| Dnase2a |
T |
C |
8: 85,636,207 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock6 |
C |
T |
9: 21,752,899 (GRCm39) |
V305I |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,699,708 (GRCm39) |
Q2288R |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,609 (GRCm39) |
N3594I |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,660,414 (GRCm39) |
M284T |
probably damaging |
Het |
| Gatm |
A |
T |
2: 122,425,984 (GRCm39) |
F422L |
probably benign |
Het |
| Glrp1 |
A |
T |
1: 88,437,574 (GRCm39) |
I12N |
unknown |
Het |
| Gm5455 |
T |
A |
13: 110,441,962 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
C |
T |
19: 55,071,659 (GRCm39) |
E361K |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,023 (GRCm39) |
T126A |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,218,368 (GRCm39) |
Q176L |
probably damaging |
Het |
| Htra1 |
C |
T |
7: 130,585,446 (GRCm39) |
A412V |
possibly damaging |
Het |
| Icosl |
C |
T |
10: 77,905,319 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,813 (GRCm39) |
T1509A |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,946 (GRCm39) |
E37G |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,395 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,406,977 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,101,125 (GRCm39) |
L1017S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,947 (GRCm39) |
Y898C |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,822,413 (GRCm39) |
S804R |
probably damaging |
Het |
| Miip |
A |
T |
4: 147,947,526 (GRCm39) |
F211L |
probably damaging |
Het |
| Moxd1 |
T |
G |
10: 24,155,445 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
G |
10: 24,163,034 (GRCm39) |
Y499D |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,207,577 (GRCm39) |
I24T |
probably benign |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,135,817 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,404,547 (GRCm39) |
D827E |
unknown |
Het |
| Myo1g |
G |
C |
11: 6,458,243 (GRCm39) |
L866V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,468,170 (GRCm39) |
M475L |
probably benign |
Het |
| Ncoa2 |
A |
C |
1: 13,244,590 (GRCm39) |
L703V |
probably damaging |
Het |
| Ncoa4-ps |
A |
C |
12: 119,225,023 (GRCm39) |
|
noncoding transcript |
Het |
| Nme6 |
T |
A |
9: 109,670,557 (GRCm39) |
Y69* |
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,397,714 (GRCm39) |
M651K |
probably benign |
Het |
| Or4k15c |
A |
C |
14: 50,322,003 (GRCm39) |
I45S |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,513,977 (GRCm39) |
S298R |
possibly damaging |
Het |
| Oscp1 |
A |
T |
4: 125,981,522 (GRCm39) |
E328V |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,838 (GRCm39) |
V1003A |
probably damaging |
Het |
| Prl |
T |
C |
13: 27,241,579 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,351,232 (GRCm39) |
V575A |
probably benign |
Het |
| Rflna |
A |
T |
5: 125,088,469 (GRCm39) |
S139C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,539,038 (GRCm39) |
F27S |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,819,460 (GRCm39) |
S347P |
probably benign |
Het |
| Shmt1 |
A |
G |
11: 60,688,308 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,296,477 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,585,957 (GRCm39) |
V425A |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,265 (GRCm39) |
V518A |
possibly damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,785,357 (GRCm39) |
Y78N |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,211 (GRCm39) |
H273Q |
probably damaging |
Het |
| Tle6 |
T |
A |
10: 81,428,635 (GRCm39) |
N431I |
probably damaging |
Het |
| Trim34b |
C |
A |
7: 103,979,118 (GRCm39) |
Q122K |
possibly damaging |
Het |
| Trio |
C |
A |
15: 27,902,686 (GRCm39) |
R258S |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,600,306 (GRCm39) |
D23V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,810,525 (GRCm39) |
M1K |
probably null |
Het |
| Ufsp2 |
T |
C |
8: 46,447,126 (GRCm39) |
V391A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,815,334 (GRCm39) |
L990S |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,017,519 (GRCm39) |
M234I |
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 |
|
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'- GTAAATGGAGCGCTGTGTGC -3'
(R):5'- TGGCGACTGAGAGAGTTCAC -3'
Sequencing Primer
(F):5'- CGCTGTGTGCTTTGTTTCC -3'
(R):5'- CATTTCTAGAAAGACCCTGGTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation