Incidental Mutation 'IGL01947:Pik3r4'
ID 181257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3r4
Ensembl Gene ENSMUSG00000032571
Gene Name phosphoinositide-3-kinase regulatory subunit 4
Synonyms p150, Vps15
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01947
Quality Score
Status
Chromosome 9
Chromosomal Location 105520177-105564856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105563349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1242 (V1242D)
Ref Sequence ENSEMBL: ENSMUSP00000139427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000098441] [ENSMUST00000166431] [ENSMUST00000191268]
AlphaFold Q8VD65
Predicted Effect possibly damaging
Transcript: ENSMUST00000065778
AA Change: V1242D

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: V1242D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000191268
AA Change: V1242D

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: V1242D

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,428 (GRCm39) probably null Het
Aloxe3 T A 11: 69,033,847 (GRCm39) probably benign Het
Atic C T 1: 71,609,996 (GRCm39) probably benign Het
Avpr1a T C 10: 122,288,087 (GRCm39) V365A probably benign Het
Brd7 A G 8: 89,059,503 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,845,579 (GRCm39) N332D probably damaging Het
Cdh20 C T 1: 104,921,649 (GRCm39) P649S possibly damaging Het
Cgnl1 T C 9: 71,632,326 (GRCm39) T342A probably damaging Het
Chst10 A G 1: 38,904,646 (GRCm39) L349P probably damaging Het
Cox6b2 T A 7: 4,754,929 (GRCm39) K77* probably null Het
Crnkl1 G A 2: 145,763,744 (GRCm39) A498V probably benign Het
Cux1 A G 5: 136,303,979 (GRCm39) L1394P probably benign Het
Dapp1 T C 3: 137,641,404 (GRCm39) Y197C probably damaging Het
Dcc A G 18: 71,959,280 (GRCm39) I164T probably benign Het
Disp3 T A 4: 148,344,976 (GRCm39) I472F probably damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpd1 A G 15: 99,618,112 (GRCm39) I143V possibly damaging Het
Hmcn1 T A 1: 150,608,643 (GRCm39) N1513I possibly damaging Het
Jakmip2 T C 18: 43,680,159 (GRCm39) I733V probably benign Het
Klhl12 T A 1: 134,391,689 (GRCm39) L107H probably damaging Het
Lcn8 A G 2: 25,545,157 (GRCm39) D109G probably damaging Het
Maz A T 7: 126,623,614 (GRCm39) probably null Het
Mttp T A 3: 137,812,890 (GRCm39) D595V probably damaging Het
Mymk A C 2: 26,956,406 (GRCm39) L58R possibly damaging Het
Nckap1 A C 2: 80,339,097 (GRCm39) I977S probably damaging Het
Nckap1l A T 15: 103,399,442 (GRCm39) I1021F probably benign Het
Or12d2 A T 17: 37,624,556 (GRCm39) C240S probably damaging Het
Or4f14b A T 2: 111,775,339 (GRCm39) M154K probably benign Het
Or4f6 A T 2: 111,839,361 (GRCm39) S57T possibly damaging Het
Or6c38 G A 10: 128,929,747 (GRCm39) T32I possibly damaging Het
Pde5a T A 3: 122,629,259 (GRCm39) F644L probably damaging Het
Pdzd2 A G 15: 12,592,440 (GRCm39) I68T probably damaging Het
Ppp6r2 G T 15: 89,162,929 (GRCm39) W517L probably damaging Het
Scrib A T 15: 75,933,616 (GRCm39) I703K probably benign Het
Serpina1b T C 12: 103,695,576 (GRCm39) S322G probably benign Het
Siglecg C A 7: 43,058,187 (GRCm39) Q25K probably benign Het
Slc12a3 G A 8: 95,092,447 (GRCm39) probably null Het
Slc6a13 G T 6: 121,302,116 (GRCm39) probably null Het
Stard13 A T 5: 150,986,309 (GRCm39) D282E probably damaging Het
Tpte A T 8: 22,845,489 (GRCm39) Y513F possibly damaging Het
Ubox5 T A 2: 130,442,579 (GRCm39) K36I possibly damaging Het
Other mutations in Pik3r4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07