Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Pik3ip1'

408389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3ip1

Ensembl Gene

ENSMUSG00000034614

Gene Name

phosphoinositide-3-kinase interacting protein 1

Synonyms

5830455E04Rik, 1500004A08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

3280731-3292971 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3283259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 57 (K57E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045153] [ENSMUST00000093399] [ENSMUST00000136474] [ENSMUST00000136536]

AlphaFold

Q7TMJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000045153
AA Change: K120E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036921
Gene: ENSMUSG00000034614
AA Change: K120E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KR	23	103	3.64e-17	SMART
transmembrane domain	170	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093399
AA Change: K120E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091100
Gene: ENSMUSG00000034614
AA Change: K120E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KR	23	103	3.64e-17	SMART
transmembrane domain	169	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130747

Predicted Effect

probably benign
Transcript: ENSMUST00000136474
AA Change: K19E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119106
Gene: ENSMUSG00000034614
AA Change: K19E

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136536
AA Change: K127E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122407
Gene: ENSMUSG00000034614
AA Change: K127E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KR	23	103	1.1e-16	SMART
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138907
AA Change: K57E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121277
Gene: ENSMUSG00000034614
AA Change: K57E

Domain	Start	End	E-Value	Type
KR	1	41	7.93e-3	SMART
transmembrane domain	108	130	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142961

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	Het

Other mutations in Pik3ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1892:Pik3ip1	UTSW	11	3,283,304 (GRCm39)	missense	probably damaging	1.00
R3940:Pik3ip1	UTSW	11	3,281,987 (GRCm39)	missense	probably damaging	0.97
R4610:Pik3ip1	UTSW	11	3,283,327 (GRCm39)	missense	probably damaging	1.00
R4818:Pik3ip1	UTSW	11	3,280,928 (GRCm39)	unclassified	probably benign
R5032:Pik3ip1	UTSW	11	3,283,520 (GRCm39)	missense	probably damaging	0.99
R6786:Pik3ip1	UTSW	11	3,282,124 (GRCm39)	missense	probably benign	0.15
R7538:Pik3ip1	UTSW	11	3,283,558 (GRCm39)	missense	probably damaging	1.00
R8263:Pik3ip1	UTSW	11	3,291,581 (GRCm39)	missense	probably damaging	0.99
R9161:Pik3ip1	UTSW	11	3,281,945 (GRCm39)	missense	possibly damaging	0.81

Posted On

2016-08-02