Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01985:Pik3r4'

181880

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 #

IGL01985

Quality Score

Status

Chromosome

Chromosomal Location

105520177-105564856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105540244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 711 (E711K)

Ref Sequence

ENSEMBL: ENSMUSP00000139427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000186943] [ENSMUST00000191268]

AlphaFold

Q8VD65

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: E711K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: E711K

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: ENSMUST00000186943
AA Change: E70K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188385

Predicted Effect

probably benign
Transcript: ENSMUST00000191268
AA Change: E711K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: E711K

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,442,024 (GRCm39)	Q76*	probably null	Het
Cass4	A	C	2: 172,269,126 (GRCm39)	S403R	probably damaging	Het
Ccdc175	A	T	12: 72,175,052 (GRCm39)	Y540*	probably null	Het
Cep164	C	T	9: 45,690,904 (GRCm39)	E1266K	probably damaging	Het
Clec12b	T	A	6: 129,359,334 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,482 (GRCm39)	K510R	unknown	Het
Crisp4	G	A	1: 18,204,289 (GRCm39)	P101S	probably damaging	Het
Dapk1	T	C	13: 60,884,074 (GRCm39)	L614P	probably damaging	Het
Dip2c	T	C	13: 9,603,303 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,911,614 (GRCm39)	F589L	probably benign	Het
Dvl2	T	A	11: 69,899,119 (GRCm39)	V459E	probably damaging	Het
E2f6	T	C	12: 16,869,064 (GRCm39)		probably null	Het
Exph5	T	C	9: 53,287,869 (GRCm39)	L1650P	probably damaging	Het
Farp2	A	G	1: 93,535,324 (GRCm39)	Y691C	probably damaging	Het
Fshb	T	C	2: 106,889,173 (GRCm39)	T44A	probably benign	Het
Gm28044	T	A	13: 67,495,958 (GRCm39)	K28*	probably null	Het
Il12b	G	A	11: 44,298,881 (GRCm39)	W112*	probably null	Het
Ino80	T	C	2: 119,263,802 (GRCm39)	T621A	probably damaging	Het
Irx5	T	A	8: 93,086,155 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,596,144 (GRCm39)	H495R	possibly damaging	Het
Kif21a	A	T	15: 90,875,970 (GRCm39)	V321D	probably damaging	Het
Lrrc10	T	A	10: 116,881,921 (GRCm39)	D198E	probably damaging	Het
Lrsam1	T	C	2: 32,818,103 (GRCm39)	E651G	probably benign	Het
Mtarc1	A	G	1: 184,519,931 (GRCm39)	V230A	probably damaging	Het
Mylk4	T	A	13: 32,901,564 (GRCm39)	I475L	possibly damaging	Het
Myom3	G	A	4: 135,493,013 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,442 (GRCm39)	V196E	probably benign	Het
Pah	G	A	10: 87,414,844 (GRCm39)	V399M	probably damaging	Het
Rbbp6	A	G	7: 122,570,296 (GRCm39)	K38E	probably damaging	Het
Ror1	G	A	4: 100,283,161 (GRCm39)	V409M	possibly damaging	Het
Slc6a11	T	A	6: 114,111,853 (GRCm39)	V140D	probably benign	Het
Srebf2	G	T	15: 82,076,560 (GRCm39)	A737S	probably benign	Het
Tcerg1	A	G	18: 42,663,721 (GRCm39)	T303A	unknown	Het
Tmem74	A	T	15: 43,730,476 (GRCm39)	I189N	probably damaging	Het
Tnr	A	G	1: 159,746,607 (GRCm39)	D1242G	possibly damaging	Het
U2surp	A	T	9: 95,372,279 (GRCm39)	F293L	probably damaging	Het
Uchl5	G	A	1: 143,661,864 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,402,565 (GRCm39)	C2472S	probably damaging	Het
Usp42	G	A	5: 143,700,940 (GRCm39)	R1028W	probably damaging	Het
Vmn2r10	A	G	5: 109,154,125 (GRCm39)	S60P	probably benign	Het
Vmn2r31	G	T	7: 7,397,510 (GRCm39)	D249E	probably benign	Het
Vnn1	C	T	10: 23,776,642 (GRCm39)	T331I	probably benign	Het
Zmym6	G	T	4: 126,994,541 (GRCm39)	V232F	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
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