Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02389:Pik3r4'

291679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3r4

Ensembl Gene

ENSMUSG00000032571

Gene Name

phosphoinositide-3-kinase regulatory subunit 4

Synonyms

D9Ertd418e, 2210010O15Rik, C730038E05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

105642978-105687657 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105650331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 294 (I294M)

Ref Sequence

ENSEMBL: ENSMUSP00000139427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000188784] [ENSMUST00000191268]

AlphaFold

Q8VD65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065778
AA Change: I294M

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: I294M

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: ENSMUST00000187446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187573

Predicted Effect

probably benign
Transcript: ENSMUST00000188784

SMART Domains

Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571

Domain	Start	End	E-Value	Type
S_TKc	26	301	2.8e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191117

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191268
AA Change: I294M

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: I294M

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 63,896,483	S11N	probably null	Het
Aqp9	T	C	9: 71,122,906	I200V	possibly damaging	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740		probably benign	Het
Dscam	T	A	16: 96,640,897	I1577F	probably benign	Het
Egflam	A	T	15: 7,250,078	N482K	probably benign	Het
Fam216a	T	C	5: 122,367,511	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Gria2	T	C	3: 80,709,422	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608	M59T	probably benign	Het
Jakmip1	C	T	5: 37,100,843	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,403,424	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991		probably null	Het
Nlrp9c	T	A	7: 26,394,207	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070	M62K	probably benign	Het
Pdzd8	A	G	19: 59,301,393	I525T	probably benign	Het
Pign	A	T	1: 105,646,781	L280*	probably null	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325		probably benign	Het
Sh3bp4	T	C	1: 89,145,148	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301		probably benign	Het
Slc26a8	T	A	17: 28,638,650	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864		probably benign	Het
Vmn1r34	A	T	6: 66,637,058	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446	C215S	probably damaging	Het
Zzef1	T	A	11: 72,899,538	V2106D	possibly damaging	Het
Zzef1	C	T	11: 72,891,217	P1995S	probably benign	Het

Other mutations in Pik3r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Pik3r4	APN	9	105644604	missense	possibly damaging	0.75
IGL01617:Pik3r4	APN	9	105654965	missense	probably benign	0.33
IGL01764:Pik3r4	APN	9	105685122	splice site	probably benign
IGL01817:Pik3r4	APN	9	105650822	missense	probably damaging	1.00
IGL01830:Pik3r4	APN	9	105644955	missense	probably damaging	1.00
IGL01905:Pik3r4	APN	9	105644878	nonsense	probably null
IGL01947:Pik3r4	APN	9	105686150	missense	possibly damaging	0.91
IGL01985:Pik3r4	APN	9	105663045	missense	probably benign	0.03
IGL02321:Pik3r4	APN	9	105644478	missense	probably benign	0.04
IGL02898:Pik3r4	APN	9	105650406	missense	probably benign	0.21
IGL03037:Pik3r4	APN	9	105650813	missense	probably damaging	1.00
boteh	UTSW	9	105667938	splice site	probably null
truth	UTSW	9	105650606	missense	probably damaging	0.98
verisimilitude	UTSW	9	105678153	missense	probably benign	0.17
IGL02835:Pik3r4	UTSW	9	105672706	missense	probably benign	0.07
R0011:Pik3r4	UTSW	9	105644637	missense	probably benign	0.01
R0312:Pik3r4	UTSW	9	105686210	missense	probably damaging	1.00
R0321:Pik3r4	UTSW	9	105648707	missense	probably damaging	1.00
R0482:Pik3r4	UTSW	9	105669045	missense	probably benign	0.04
R0645:Pik3r4	UTSW	9	105669187	splice site	probably benign
R0690:Pik3r4	UTSW	9	105653976	missense	possibly damaging	0.81
R0789:Pik3r4	UTSW	9	105685167	missense	probably benign	0.14
R0894:Pik3r4	UTSW	9	105667771	missense	possibly damaging	0.73
R0988:Pik3r4	UTSW	9	105687205	missense	probably damaging	0.97
R1123:Pik3r4	UTSW	9	105663129	missense	probably benign
R1172:Pik3r4	UTSW	9	105663174	missense	probably damaging	1.00
R1174:Pik3r4	UTSW	9	105663174	missense	probably damaging	1.00
R1342:Pik3r4	UTSW	9	105650901	critical splice donor site	probably null
R1387:Pik3r4	UTSW	9	105644291	missense	probably damaging	1.00
R1480:Pik3r4	UTSW	9	105687244	missense	probably benign	0.39
R1638:Pik3r4	UTSW	9	105687209	missense	probably damaging	1.00
R1643:Pik3r4	UTSW	9	105687152	missense	possibly damaging	0.83
R1995:Pik3r4	UTSW	9	105669165	missense	probably benign	0.12
R2037:Pik3r4	UTSW	9	105650335	missense	probably benign	0.00
R2165:Pik3r4	UTSW	9	105672785	missense	probably benign	0.05
R4210:Pik3r4	UTSW	9	105650758	missense	possibly damaging	0.57
R4515:Pik3r4	UTSW	9	105672725	missense	probably damaging	1.00
R4519:Pik3r4	UTSW	9	105672725	missense	probably damaging	1.00
R4630:Pik3r4	UTSW	9	105654899	missense	probably benign	0.06
R4632:Pik3r4	UTSW	9	105654899	missense	probably benign	0.06
R4732:Pik3r4	UTSW	9	105678176	missense	possibly damaging	0.56
R4733:Pik3r4	UTSW	9	105678176	missense	possibly damaging	0.56
R4940:Pik3r4	UTSW	9	105668994	missense	probably benign	0.20
R5120:Pik3r4	UTSW	9	105669009	missense	probably benign	0.30
R5169:Pik3r4	UTSW	9	105678161	missense	probably benign	0.14
R5183:Pik3r4	UTSW	9	105682308	missense	possibly damaging	0.87
R5353:Pik3r4	UTSW	9	105667938	splice site	probably null
R5463:Pik3r4	UTSW	9	105648731	missense	probably damaging	1.00
R5635:Pik3r4	UTSW	9	105667825	missense	probably benign	0.01
R5763:Pik3r4	UTSW	9	105669775	missense	probably benign	0.01
R5830:Pik3r4	UTSW	9	105644824	nonsense	probably null
R6251:Pik3r4	UTSW	9	105654048	missense	probably benign
R6468:Pik3r4	UTSW	9	105685190	missense	possibly damaging	0.86
R6611:Pik3r4	UTSW	9	105644277	missense	probably damaging	0.99
R6642:Pik3r4	UTSW	9	105644646	missense	probably benign	0.11
R6821:Pik3r4	UTSW	9	105650606	missense	probably damaging	0.98
R7039:Pik3r4	UTSW	9	105676890	missense	possibly damaging	0.76
R7144:Pik3r4	UTSW	9	105650584	missense	probably damaging	0.98
R7410:Pik3r4	UTSW	9	105650591	missense	probably damaging	0.99
R7559:Pik3r4	UTSW	9	105678153	missense	probably benign	0.17
R7561:Pik3r4	UTSW	9	105687247	missense	possibly damaging	0.94
R7658:Pik3r4	UTSW	9	105644511	missense	probably damaging	0.98
R7727:Pik3r4	UTSW	9	105669882	missense	probably damaging	0.99
R7871:Pik3r4	UTSW	9	105663117	missense	probably damaging	1.00
R7957:Pik3r4	UTSW	9	105687209	missense	probably damaging	1.00
R8138:Pik3r4	UTSW	9	105669035	missense	possibly damaging	0.55
R8686:Pik3r4	UTSW	9	105658529	missense	possibly damaging	0.50
R8719:Pik3r4	UTSW	9	105682195	missense	probably benign	0.00
R9091:Pik3r4	UTSW	9	105669909	missense	probably benign	0.35
R9189:Pik3r4	UTSW	9	105669839	missense	probably benign	0.22
R9270:Pik3r4	UTSW	9	105669909	missense	probably benign	0.35
R9439:Pik3r4	UTSW	9	105650842	missense	probably damaging	1.00

Posted On

2015-04-16