Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01375:Pik3r4'

78678

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 #

IGL01375

Quality Score

Status

Chromosome

Chromosomal Location

105520177-105564856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105521803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 123 (I123T)

Ref Sequence

ENSEMBL: ENSMUSP00000140988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000188784] [ENSMUST00000190358] [ENSMUST00000191268]

AlphaFold

Q8VD65

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: I123T

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: I123T

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

possibly damaging
Transcript: ENSMUST00000188784
AA Change: I123T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
AA Change: I123T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190358
AA Change: I123T

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139643
Gene: ENSMUSG00000032571
AA Change: I123T

Domain	Start	End	E-Value	Type
S_TKc	26	174	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191117

Predicted Effect

probably benign
Transcript: ENSMUST00000191268
AA Change: I123T

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: I123T

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	C	T	9: 69,390,301 (GRCm39)	R68*	probably null	Het
Apc	C	T	18: 34,446,707 (GRCm39)	S1167L	probably damaging	Het
Aqp2	A	G	15: 99,479,983 (GRCm39)	T149A	possibly damaging	Het
Asb8	T	C	15: 98,039,190 (GRCm39)	E70G	probably damaging	Het
Carmil1	T	C	13: 24,278,454 (GRCm39)	I172V	possibly damaging	Het
Cd38	A	G	5: 44,060,939 (GRCm39)	M172V	probably benign	Het
Dync2i1	G	T	12: 116,193,296 (GRCm39)	A552E	possibly damaging	Het
Dyrk2	A	G	10: 118,696,592 (GRCm39)	V222A	probably damaging	Het
Ephb6	T	A	6: 41,592,845 (GRCm39)		probably benign	Het
Fbxo15	T	C	18: 84,976,404 (GRCm39)	S48P	possibly damaging	Het
Gsdma3	T	C	11: 98,520,767 (GRCm39)		probably null	Het
H2bl1	A	G	13: 99,120,650 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,484 (GRCm39)	T238A	probably benign	Het
Kcnh3	G	A	15: 99,124,874 (GRCm39)	W108*	probably null	Het
Kdsr	A	T	1: 106,655,424 (GRCm39)	Y272N	probably benign	Het
Lrp2	A	G	2: 69,308,910 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,067,200 (GRCm39)	V747M	probably damaging	Het
Or10g3	A	G	14: 52,609,865 (GRCm39)	I215T	probably damaging	Het
Or4a67	A	G	2: 88,597,810 (GRCm39)	V283A	probably benign	Het
Pfn3	T	A	13: 55,562,641 (GRCm39)	R113S	possibly damaging	Het
Plec	A	T	15: 76,060,640 (GRCm39)	I3121N	probably damaging	Het
Prepl	C	T	17: 85,379,419 (GRCm39)	G336D	possibly damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prps1l1	A	G	12: 35,035,631 (GRCm39)	T249A	possibly damaging	Het
Rptor	T	A	11: 119,787,262 (GRCm39)	F1276I	possibly damaging	Het
Serpina3f	G	A	12: 104,186,735 (GRCm39)	V434I	unknown	Het
Slc25a12	T	C	2: 71,138,394 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,327,593 (GRCm39)	C642R	probably damaging	Het
Slit2	C	T	5: 48,439,056 (GRCm39)		probably benign	Het
Tasor	A	G	14: 27,162,120 (GRCm39)	R159G	probably damaging	Het
Tgfbr3	A	G	5: 107,284,837 (GRCm39)	V604A	probably benign	Het
Tnfrsf1b	T	C	4: 144,951,986 (GRCm39)	Y126C	probably damaging	Het
Traf4	T	C	11: 78,050,908 (GRCm39)	N416S	probably benign	Het
Trappc10	A	G	10: 78,024,733 (GRCm39)	I1132T	possibly damaging	Het
Vps8	T	A	16: 21,378,122 (GRCm39)	Y642*	probably null	Het

Other mutations in Pik3r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-11-05