Mutagenetix > Incidental Mutation

Incidental Mutation 'R8117:Ippk'

631297

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

067546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49574725-49618049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49599818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 226 (P226S)

Ref Sequence

ENSEMBL: ENSMUSP00000021817 (fasta)

Gene Model

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

AlphaFold

Q6P1C1

Predicted Effect

SMART Domains

Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: P226S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220447
AA Change: P226S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000220856

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,058,078 (GRCm39)	T14A		Het
2610008E11Rik	T	C	10: 78,930,289 (GRCm39)	N42D	probably benign	Het
Ajm1	A	G	2: 25,469,246 (GRCm39)	F222L	probably benign	Het
Ankrd54	T	A	15: 78,939,641 (GRCm39)	M183L		Het
Apob	G	A	12: 8,056,435 (GRCm39)	G1639D	probably damaging	Het
B3gat2	A	G	1: 23,884,061 (GRCm39)	T283A	probably benign	Het
Bmpr2	T	G	1: 59,886,252 (GRCm39)	S296R	probably damaging	Het
Cand1	G	A	10: 119,042,721 (GRCm39)	T1123I	probably damaging	Het
Cc2d2a	T	C	5: 43,869,781 (GRCm39)	F943S	probably damaging	Het
Ccdc40	T	C	11: 119,144,211 (GRCm39)	I912T	probably benign	Het
Cdkn2d	G	A	9: 21,200,447 (GRCm39)	S108L	probably benign	Het
Cep295	G	A	9: 15,245,660 (GRCm39)	T932I	probably damaging	Het
Cntn5	A	G	9: 9,673,955 (GRCm39)	S716P	probably benign	Het
Col18a1	T	C	10: 76,895,808 (GRCm39)	E903G	probably benign	Het
Ctrc	T	A	4: 141,565,972 (GRCm39)	I229F	probably damaging	Het
Cyb561d2	C	T	9: 107,418,771 (GRCm39)	A18T	probably benign	Het
Dnajb4	T	A	3: 151,899,089 (GRCm39)	K46*	probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg1c	C	T	18: 20,410,016 (GRCm39)	H495Y	probably benign	Het
Eif2b3	A	G	4: 116,879,414 (GRCm39)	D18G	probably damaging	Het
Enam	A	T	5: 88,651,385 (GRCm39)	I965L	probably benign	Het
Fhod3	T	A	18: 25,248,910 (GRCm39)	I1363K	probably damaging	Het
Fras1	A	G	5: 96,855,245 (GRCm39)	Y1918C	probably damaging	Het
Fsip2	T	A	2: 82,823,296 (GRCm39)	I6343N	possibly damaging	Het
Gpr45	G	C	1: 43,072,475 (GRCm39)	V373L	probably damaging	Het
Hdac2	G	T	10: 36,873,966 (GRCm39)	Q365H	probably damaging	Het
Hspa12b	A	G	2: 130,980,389 (GRCm39)	T103A	possibly damaging	Het
Ifrd1	A	T	12: 40,262,350 (GRCm39)	S287T	probably benign	Het
Igkv6-15	G	A	6: 70,383,622 (GRCm39)	P60S	possibly damaging	Het
Kctd19	T	A	8: 106,122,069 (GRCm39)	D109V	unknown	Het
Matn4	G	A	2: 164,234,851 (GRCm39)	S540L	probably damaging	Het
Matn4	T	C	2: 164,241,682 (GRCm39)	K248E	probably benign	Het
Muc16	G	A	9: 18,420,206 (GRCm39)	Q97*	probably null	Het
Mup18	A	G	4: 61,592,238 (GRCm39)	C9R	unknown	Het
Myh1	A	G	11: 67,113,031 (GRCm39)	K1845R	probably damaging	Het
Mysm1	G	A	4: 94,848,627 (GRCm39)	R469*	probably null	Het
Naip1	T	C	13: 100,563,509 (GRCm39)	D552G	possibly damaging	Het
Nrcam	A	G	12: 44,618,371 (GRCm39)	D787G	probably benign	Het
Nrcam	G	A	12: 44,645,365 (GRCm39)	V1256I	probably damaging	Het
Obscn	G	T	11: 58,932,980 (GRCm39)	H4799N	possibly damaging	Het
Or1f12	T	C	13: 21,722,122 (GRCm39)	K3E	probably benign	Het
Or4p4	A	G	2: 88,482,729 (GRCm39)	K78E	probably damaging	Het
Or52e18	T	C	7: 104,609,356 (GRCm39)	I194M	probably damaging	Het
Or7g22	A	G	9: 19,048,353 (GRCm39)	I21M	probably benign	Het
Pcdhgb5	T	C	18: 37,866,302 (GRCm39)	F699S	probably damaging	Het
Phtf2	T	C	5: 21,007,038 (GRCm39)	E175G	probably benign	Het
Pira1	G	A	7: 3,740,075 (GRCm39)	T340I	probably damaging	Het
Ppp2r5c	A	G	12: 110,517,519 (GRCm39)	H218R	possibly damaging	Het
Ptgs2	A	G	1: 149,979,785 (GRCm39)	R297G	probably damaging	Het
Rapgef3	A	T	15: 97,648,747 (GRCm39)	D619E	probably benign	Het
Ric1	G	A	19: 29,552,191 (GRCm39)	V321I	probably benign	Het
Ripor1	T	C	8: 106,344,105 (GRCm39)	V413A	probably damaging	Het
Rsf1	G	T	7: 97,288,464 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,504,017 (GRCm39)	D122G	probably damaging	Het
Sec16a	A	T	2: 26,331,441 (GRCm39)	H191Q	probably benign	Het
Slco1a5	G	T	6: 142,208,418 (GRCm39)	N124K	probably damaging	Het
Snrnp200	A	G	2: 127,071,051 (GRCm39)	T1111A	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Tanc2	T	A	11: 105,725,988 (GRCm39)	V384E	probably damaging	Het
Tbrg1	A	G	9: 37,568,296 (GRCm39)	F49L	possibly damaging	Het
Tecta	A	G	9: 42,288,927 (GRCm39)	F546S	probably damaging	Het
Tmem132c	A	G	5: 127,437,176 (GRCm39)	R222G	probably benign	Het
Trub2	C	T	2: 29,668,739 (GRCm39)		probably null	Het
Tti1	G	T	2: 157,849,418 (GRCm39)	P607Q	probably damaging	Het
Vmn1r62	T	A	7: 5,678,726 (GRCm39)	F136I	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,469 (GRCm39)	H179L	probably benign	Het
Wdfy4	A	T	14: 32,699,063 (GRCm39)	C2703*	probably null	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wipf3	A	G	6: 54,460,816 (GRCm39)	K88R	probably benign	Het
Zfp641	C	T	15: 98,186,856 (GRCm39)	G256R	probably damaging	Het
Zfp993	T	A	4: 146,741,972 (GRCm39)	C99S	probably benign	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
R1491:Ippk	UTSW	13	49,615,069 (GRCm39)	missense	probably benign	0.16
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
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'- TGGGATTCTTCTGAGGAGTCAC -3'
(R):5'- GCTGAAAGGACTGGCTTCAC -3'

Sequencing Primer
(F):5'- CTGTGCAGCAACCCTGACTAG -3'
(R):5'- TGAAAGGACTGGCTTCACAGACTC -3'

Posted On

2020-06-30