Incidental Mutation 'R4519:Pik3r4'
| ID |
334127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
041590-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105549924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1005
(H1005R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000186943]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065778
AA Change: H1005R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: H1005R
| 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 damaging
Transcript: ENSMUST00000191268
AA Change: H1005R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: H1005R
| 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 |
0.1488 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
G |
9: 114,129,092 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
A |
T |
7: 131,031,733 (GRCm39) |
T190S |
probably damaging |
Het |
| Adamts17 |
G |
T |
7: 66,490,314 (GRCm39) |
G132V |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,930,929 (GRCm39) |
I957M |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,256,379 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
T |
C |
2: 84,497,924 (GRCm39) |
Y521H |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,621,102 (GRCm39) |
N220S |
probably benign |
Het |
| Ccdc112 |
T |
G |
18: 46,420,613 (GRCm39) |
E379A |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,063,123 (GRCm39) |
K1573M |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,251,975 (GRCm39) |
I544F |
unknown |
Het |
| Cyp20a1 |
A |
T |
1: 60,426,306 (GRCm39) |
Y416F |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,247,096 (GRCm39) |
K132E |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Ddx41 |
A |
T |
13: 55,680,957 (GRCm39) |
V329E |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,335,838 (GRCm39) |
Y272N |
probably damaging |
Het |
| Fam114a1 |
C |
A |
5: 65,163,225 (GRCm39) |
P174Q |
probably benign |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Ghr |
T |
A |
15: 3,362,970 (GRCm39) |
L167F |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gm9767 |
T |
C |
10: 25,954,756 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Gsdme |
A |
T |
6: 50,206,333 (GRCm39) |
I170N |
probably damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,568,475 (GRCm39) |
K867M |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,985,453 (GRCm39) |
V196A |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,671,492 (GRCm39) |
M1558L |
probably benign |
Het |
| Mcam |
T |
G |
9: 44,052,640 (GRCm39) |
M623R |
possibly damaging |
Het |
| Mrps26 |
A |
T |
2: 130,406,269 (GRCm39) |
Q134L |
probably benign |
Het |
| Mxra8 |
T |
C |
4: 155,927,440 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
G |
7: 139,999,123 (GRCm39) |
S188P |
probably damaging |
Het |
| Or52n20 |
G |
A |
7: 104,320,046 (GRCm39) |
G46R |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Parg |
C |
A |
14: 31,931,592 (GRCm39) |
T404K |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,205,951 (GRCm39) |
E1486G |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,525,391 (GRCm39) |
|
probably null |
Het |
| Ppp6r1 |
A |
C |
7: 4,644,045 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
A |
G |
7: 140,734,491 (GRCm39) |
T309A |
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,406,609 (GRCm39) |
M987V |
probably damaging |
Het |
| Rgs17 |
C |
A |
10: 5,868,192 (GRCm39) |
L9F |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,027,738 (GRCm39) |
R168G |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,787,623 (GRCm39) |
L593* |
probably null |
Het |
| Scaf11 |
C |
A |
15: 96,322,719 (GRCm39) |
K108N |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,935 (GRCm39) |
M528K |
possibly damaging |
Het |
| Shank2 |
G |
A |
7: 143,963,942 (GRCm39) |
D727N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,176,685 (GRCm39) |
I479F |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,118,316 (GRCm39) |
L188P |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,957 (GRCm39) |
F829L |
probably 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 |
|
|
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 |
|
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'- AGTCCTATGTCATGGTCCAGTAGAC -3'
(R):5'- GCCCTAAGCAGCTCTGATAC -3'
Sequencing Primer
(F):5'- TCCAGTAGACCCCTCTGGATG -3'
(R):5'- TCTGATACAGAGAGAGCATTCTGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation