Incidental Mutation 'R7957:Pik3r4'
ID |
649900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
MMRRC Submission |
046001-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7957 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105564408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1334
(D1334G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000098441]
[ENSMUST00000166431]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065778
AA Change: D1334G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: D1334G
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: ENSMUST00000098441
|
SMART Domains |
Protein: ENSMUSP00000096040 Gene: ENSMUSG00000043719
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
VWA
|
24 |
197 |
4.26e-26 |
SMART |
VWA
|
226 |
407 |
1.06e-30 |
SMART |
VWA
|
433 |
610 |
5.19e-39 |
SMART |
VWA
|
619 |
795 |
3.58e-42 |
SMART |
VWA
|
806 |
982 |
6.64e-37 |
SMART |
VWA
|
997 |
1175 |
2.7e-37 |
SMART |
VWA
|
1184 |
1370 |
3.45e-1 |
SMART |
Pfam:Collagen
|
1389 |
1450 |
3.3e-9 |
PFAM |
low complexity region
|
1451 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1508 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1623 |
N/A |
INTRINSIC |
low complexity region
|
1698 |
1724 |
N/A |
INTRINSIC |
VWA
|
1754 |
1937 |
1.73e-17 |
SMART |
VWA
|
1962 |
2145 |
4.4e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166431
|
SMART Domains |
Protein: ENSMUSP00000125765 Gene: ENSMUSG00000043719
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
VWA
|
24 |
197 |
4.26e-26 |
SMART |
VWA
|
226 |
407 |
1.06e-30 |
SMART |
VWA
|
433 |
610 |
5.19e-39 |
SMART |
VWA
|
619 |
795 |
3.58e-42 |
SMART |
VWA
|
806 |
982 |
6.64e-37 |
SMART |
VWA
|
997 |
1175 |
2.7e-37 |
SMART |
VWA
|
1184 |
1370 |
3.45e-1 |
SMART |
Pfam:Collagen
|
1389 |
1450 |
9.3e-10 |
PFAM |
low complexity region
|
1451 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1508 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1623 |
N/A |
INTRINSIC |
low complexity region
|
1698 |
1724 |
N/A |
INTRINSIC |
VWA
|
1754 |
1937 |
1.73e-17 |
SMART |
VWA
|
1962 |
2145 |
4.4e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189691
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191268
AA Change: D1334G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: D1334G
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 |
0.6437 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (46/47) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,982,439 (GRCm39) |
M1T |
probably null |
Het |
Abhd2 |
T |
A |
7: 78,975,194 (GRCm39) |
M128K |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,317,298 (GRCm39) |
T1333A |
possibly damaging |
Het |
Alg8 |
A |
G |
7: 97,040,131 (GRCm39) |
T438A |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,609,734 (GRCm39) |
S78I |
possibly damaging |
Het |
Cebpa |
A |
G |
7: 34,819,867 (GRCm39) |
I342V |
possibly damaging |
Het |
Chd9 |
T |
C |
8: 91,778,326 (GRCm39) |
M2779T |
probably damaging |
Het |
Cnot3 |
C |
A |
7: 3,661,221 (GRCm39) |
P577T |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,649,556 (GRCm39) |
D755G |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,685,347 (GRCm39) |
V1443A |
unknown |
Het |
Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,619,430 (GRCm39) |
D1031G |
probably damaging |
Het |
Fam83b |
T |
A |
9: 76,399,267 (GRCm39) |
H612L |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,081,410 (GRCm39) |
T149A |
probably damaging |
Het |
Gm3667 |
T |
C |
14: 18,269,663 (GRCm39) |
N156D |
probably benign |
Het |
Hpcal1 |
T |
A |
12: 17,841,171 (GRCm39) |
L183Q |
probably damaging |
Het |
Ilf2 |
G |
T |
3: 90,394,777 (GRCm39) |
E342* |
probably null |
Het |
Ints13 |
A |
G |
6: 146,452,264 (GRCm39) |
S652P |
probably damaging |
Het |
Kansl2 |
C |
A |
15: 98,422,499 (GRCm39) |
E356D |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,768,201 (GRCm39) |
E448G |
probably null |
Het |
Mmp14 |
A |
G |
14: 54,673,707 (GRCm39) |
I124V |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,354,747 (GRCm39) |
D1008E |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,554,767 (GRCm39) |
V3842G |
unknown |
Het |
Myo9b |
A |
T |
8: 71,807,405 (GRCm39) |
I1614F |
probably benign |
Het |
Nipa1 |
A |
T |
7: 55,629,547 (GRCm39) |
C189S |
probably damaging |
Het |
Ntn4 |
T |
C |
10: 93,480,335 (GRCm39) |
|
probably benign |
Het |
Or12k5 |
A |
G |
2: 36,894,972 (GRCm39) |
I218T |
probably benign |
Het |
Or2t29 |
A |
G |
11: 58,433,624 (GRCm39) |
L239P |
probably damaging |
Het |
Or3a4 |
A |
C |
11: 73,944,982 (GRCm39) |
L201R |
probably damaging |
Het |
Or4x13 |
A |
T |
2: 90,231,395 (GRCm39) |
Y130F |
probably damaging |
Het |
Or8g17 |
T |
G |
9: 38,930,349 (GRCm39) |
I163L |
probably benign |
Het |
Pank1 |
T |
A |
19: 34,791,096 (GRCm39) |
H528L |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,589,131 (GRCm39) |
L1698* |
probably null |
Het |
Park7 |
A |
G |
4: 150,988,341 (GRCm39) |
S85P |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 79,122,276 (GRCm39) |
E30G |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,160,523 (GRCm39) |
F676L |
probably damaging |
Het |
Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scd4 |
G |
T |
19: 44,329,687 (GRCm39) |
M219I |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,847,613 (GRCm39) |
I166N |
probably benign |
Het |
Smim22 |
A |
T |
16: 4,826,089 (GRCm39) |
D85V |
probably damaging |
Het |
Socs2 |
T |
C |
10: 95,250,812 (GRCm39) |
E7G |
probably benign |
Het |
Thumpd2 |
T |
C |
17: 81,334,157 (GRCm39) |
E477G |
probably benign |
Het |
Tlr12 |
C |
T |
4: 128,510,483 (GRCm39) |
G589D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,595,199 (GRCm39) |
I20317K |
probably damaging |
Het |
Ttyh2 |
A |
G |
11: 114,599,690 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
T |
A |
5: 87,475,050 (GRCm39) |
D398V |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,650,589 (GRCm39) |
M101L |
|
Het |
Vmn2r93 |
A |
T |
17: 18,545,954 (GRCm39) |
R609* |
probably null |
Het |
Zfp473 |
C |
T |
7: 44,381,916 (GRCm39) |
E806K |
probably damaging |
Het |
Zfp93 |
T |
C |
7: 23,974,999 (GRCm39) |
L328P |
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 |
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 |
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'- AAACCCAGGTCACTGTGGAC -3'
(R):5'- TCACTTCAAAACCCACGTTTG -3'
Sequencing Primer
(F):5'- AAGGAGGTGTTAACTCCCTAGTC -3'
(R):5'- AACCCACGTTTGTTCTCTAGAAG -3'
|
Posted On |
2020-09-15 |