Incidental Mutation 'IGL01830:Pik3r4'
ID 154753
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 # IGL01830
Quality Score
Status
Chromosome 9
Chromosomal Location 105520177-105564856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105522154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 240 (D240G)
Ref Sequence ENSEMBL: ENSMUSP00000140988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000188784] [ENSMUST00000190358] [ENSMUST00000191268]
AlphaFold Q8VD65
Predicted Effect probably damaging
Transcript: ENSMUST00000065778
AA Change: D240G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: D240G

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 noncoding transcript
Transcript: ENSMUST00000187446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187573
Predicted Effect probably damaging
Transcript: ENSMUST00000188784
AA Change: D240G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
AA Change: D240G

DomainStartEndE-ValueType
S_TKc 26 301 2.8e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190358
SMART Domains Protein: ENSMUSP00000139643
Gene: ENSMUSG00000032571

DomainStartEndE-ValueType
S_TKc 26 174 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191117
Predicted Effect probably damaging
Transcript: ENSMUST00000191268
AA Change: D240G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: D240G

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,717,779 (GRCm39) P252Q probably damaging Het
Anks4b T A 7: 119,773,219 (GRCm39) N26K probably damaging Het
Arrdc5 C T 17: 56,601,652 (GRCm39) V158I probably damaging Het
Catsper2 T C 2: 121,237,843 (GRCm39) D179G probably damaging Het
Cd44 T C 2: 102,672,603 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,888,925 (GRCm39) D231E possibly damaging Het
Cep57l1 C T 10: 41,604,649 (GRCm39) C160Y probably benign Het
Chek2 T A 5: 111,021,374 (GRCm39) L528Q probably benign Het
Ciita T C 16: 10,338,915 (GRCm39) L973P probably damaging Het
Dock2 A T 11: 34,582,744 (GRCm39) L637* probably null Het
Fsip2 A C 2: 82,815,273 (GRCm39) I3669L probably benign Het
Gapvd1 A G 2: 34,578,968 (GRCm39) V1218A probably benign Het
Gip T C 11: 95,919,550 (GRCm39) L91S possibly damaging Het
Gp2 T C 7: 119,050,765 (GRCm39) D322G probably damaging Het
Ift172 A G 5: 31,442,636 (GRCm39) V177A probably damaging Het
Kng2 T C 16: 22,806,801 (GRCm39) D466G probably damaging Het
Lpar5 G A 6: 125,058,785 (GRCm39) A169T probably benign Het
Med13 C T 11: 86,179,754 (GRCm39) probably benign Het
Meiob T A 17: 25,054,105 (GRCm39) C391S probably benign Het
Mgat5 A G 1: 127,339,869 (GRCm39) T417A probably damaging Het
Myo1b A T 1: 51,836,624 (GRCm39) L279* probably null Het
Myo1g T A 11: 6,464,522 (GRCm39) K513* probably null Het
Nxpe2 A T 9: 48,237,794 (GRCm39) S154T probably damaging Het
Ogn C T 13: 49,762,723 (GRCm39) Q22* probably null Het
Or4c12 A G 2: 89,773,775 (GRCm39) L228S probably benign Het
Pacs2 A T 12: 113,020,574 (GRCm39) K316* probably null Het
Pelo T A 13: 115,225,131 (GRCm39) I365F probably damaging Het
Phf3 G A 1: 30,853,148 (GRCm39) Q1021* probably null Het
Pknox1 T C 17: 31,814,284 (GRCm39) M203T probably benign Het
Pld1 T C 3: 28,102,153 (GRCm39) probably benign Het
Rabgef1 G T 5: 130,240,907 (GRCm39) C342F possibly damaging Het
Rbm19 A C 5: 120,262,760 (GRCm39) K307T possibly damaging Het
Sdcbp2 T A 2: 151,431,494 (GRCm39) I289N probably damaging Het
Slc5a12 G A 2: 110,428,151 (GRCm39) G69R probably damaging Het
Spag1 C A 15: 36,221,705 (GRCm39) S599R probably benign Het
Ubr4 A T 4: 139,199,811 (GRCm39) D4565V probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn1r225 T C 17: 20,722,717 (GRCm39) S53P probably damaging Het
Xrcc1 T A 7: 24,272,767 (GRCm39) probably benign 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
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
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 2014-02-04