Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Ippk'

163771

Institutional Source

Beutler Lab

Gene Symbol

Ippk

Ensembl Gene

ENSMUSG00000021385

Gene Name

inositol 1,3,4,5,6-pentakisphosphate 2-kinase

Synonyms

1810043M15Rik

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49574725-49618049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49615069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 484 (V484A)

Ref Sequence

ENSEMBL: ENSMUSP00000021817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000021818] [ENSMUST00000220447] [ENSMUST00000220856]

AlphaFold

Q6P1C1

Predicted Effect

probably benign
Transcript: ENSMUST00000021817
AA Change: V484A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: V484A

Domain	Start	End	E-Value	Type
Pfam:Ins_P5_2-kin	13	455	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220447
AA Change: V435A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000220856

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a gene trap insertion die prior to E8.5. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	Het

Other mutations in Ippk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Ippk	APN	13	49,602,740 (GRCm39)	missense	probably damaging	1.00
IGL01994:Ippk	APN	13	49,612,093 (GRCm39)	missense	possibly damaging	0.94
IGL02165:Ippk	APN	13	49,600,011 (GRCm39)	missense	possibly damaging	0.78
IGL02577:Ippk	APN	13	49,615,134 (GRCm39)	missense	possibly damaging	0.86
IGL03181:Ippk	APN	13	49,595,463 (GRCm39)	missense	probably damaging	1.00
1mM(1):Ippk	UTSW	13	49,588,967 (GRCm39)	missense	probably damaging	1.00
R0467:Ippk	UTSW	13	49,584,341 (GRCm39)	splice site	probably null
R0811:Ippk	UTSW	13	49,596,947 (GRCm39)	missense	probably damaging	1.00
R0812:Ippk	UTSW	13	49,596,947 (GRCm39)	missense	probably damaging	1.00
R1621:Ippk	UTSW	13	49,615,044 (GRCm39)	missense	probably benign	0.15
R1930:Ippk	UTSW	13	49,603,494 (GRCm39)	missense	probably damaging	1.00
R4081:Ippk	UTSW	13	49,599,852 (GRCm39)	missense	probably damaging	1.00
R5815:Ippk	UTSW	13	49,599,839 (GRCm39)	missense	probably damaging	1.00
R7007:Ippk	UTSW	13	49,590,181 (GRCm39)	splice site	probably null
R7069:Ippk	UTSW	13	49,615,219 (GRCm39)	missense	probably damaging	0.99
R7258:Ippk	UTSW	13	49,587,338 (GRCm39)	missense	probably benign	0.02
R7337:Ippk	UTSW	13	49,602,767 (GRCm39)	missense	probably benign	0.39
R7466:Ippk	UTSW	13	49,585,943 (GRCm39)	critical splice donor site	probably null
R7794:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R7848:Ippk	UTSW	13	49,596,972 (GRCm39)	critical splice donor site	probably null
R8112:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8113:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8115:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8116:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8117:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8118:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8245:Ippk	UTSW	13	49,599,818 (GRCm39)	missense
R8378:Ippk	UTSW	13	49,589,055 (GRCm39)	nonsense	probably null
R8395:Ippk	UTSW	13	49,615,096 (GRCm39)	missense	probably damaging	0.99
R8549:Ippk	UTSW	13	49,615,177 (GRCm39)	missense	probably benign	0.00
R8912:Ippk	UTSW	13	49,603,513 (GRCm39)	missense	probably damaging	0.98
R9351:Ippk	UTSW	13	49,615,107 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCCTATGGCATAGCAGTCACTTACC -3'
(R):5'- AGTTTCAAAGACACCGCAGGGG -3'

Sequencing Primer
(F):5'- ATAGCAGTCACTTACCTGTGC -3'
(R):5'- GCAGGGGAAAAGTTAGACCTTATG -3'

Posted On

2014-03-28