Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02898:Pik3r4'

363474

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 #

IGL02898

Quality Score

Status

Chromosome

Chromosomal Location

105520177-105564856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105527605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 319 (I319M)

Ref Sequence

ENSEMBL: ENSMUSP00000139427 (fasta)

Gene Model

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

AlphaFold

Q8VD65

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: I319M

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: I319M

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

probably benign
Transcript: ENSMUST00000191268
AA Change: I319M

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: I319M

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,178,065 (GRCm39)		probably benign	Het
Brd3	A	G	2: 27,349,753 (GRCm39)	S267P	possibly damaging	Het
Btaf1	A	G	19: 36,946,468 (GRCm39)	T425A	probably benign	Het
Caskin1	A	T	17: 24,721,383 (GRCm39)	E544D	probably benign	Het
Col20a1	C	T	2: 180,630,905 (GRCm39)	Q58*	probably null	Het
Eif2ak1	G	A	5: 143,826,270 (GRCm39)	V428I	probably damaging	Het
Fez2	A	G	17: 78,692,184 (GRCm39)	I345T	probably benign	Het
Focad	A	T	4: 88,310,234 (GRCm39)	M1388L	probably benign	Het
Gfer	T	C	17: 24,914,921 (GRCm39)	R41G	probably benign	Het
Gm9956	C	T	10: 56,621,350 (GRCm39)	S4L	unknown	Het
Krtap6-1	G	A	16: 88,828,643 (GRCm39)	G13D	unknown	Het
Megf8	A	G	7: 25,045,933 (GRCm39)	E1492G	possibly damaging	Het
Myh7	T	C	14: 55,221,197 (GRCm39)	I909V	probably damaging	Het
Or11g25	T	A	14: 50,723,643 (GRCm39)	S243T	probably damaging	Het
Or1e21	T	A	11: 73,344,561 (GRCm39)	H159L	probably damaging	Het
Otog	A	G	7: 45,959,562 (GRCm39)	E717G	probably damaging	Het
Piwil4	A	T	9: 14,617,583 (GRCm39)		probably benign	Het
Plekho1	T	A	3: 95,899,493 (GRCm39)	H100L	probably damaging	Het
Prr30	T	G	14: 101,435,917 (GRCm39)	D215A	probably benign	Het
Prss52	C	T	14: 64,351,115 (GRCm39)	A300V	possibly damaging	Het
Ralgps2	C	A	1: 156,645,314 (GRCm39)	K514N	probably benign	Het
Robo4	T	C	9: 37,319,472 (GRCm39)	I463T	probably damaging	Het
Sars1	A	T	3: 108,336,579 (GRCm39)	F268Y	probably damaging	Het
Sidt1	C	T	16: 44,102,858 (GRCm39)	R289Q	possibly damaging	Het
Slco1a8	T	A	6: 141,940,023 (GRCm39)	Y140F	probably benign	Het
Slco2a1	T	C	9: 102,956,805 (GRCm39)	V539A	probably damaging	Het
Snrnp200	A	G	2: 127,058,676 (GRCm39)		probably benign	Het
Spag17	A	G	3: 100,008,702 (GRCm39)	D1944G	probably benign	Het
Spata1	C	T	3: 146,181,094 (GRCm39)	R288Q	possibly damaging	Het
Tatdn3	T	C	1: 190,778,507 (GRCm39)	*233W	probably null	Het
Ttc3	T	A	16: 94,220,285 (GRCm39)	V536E	probably damaging	Het
V1rd19	A	C	7: 23,702,854 (GRCm39)	T107P	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
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

2015-12-18