Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Ipmk'

560804

Institutional Source

Beutler Lab

Gene Symbol

Ipmk

Ensembl Gene

ENSMUSG00000060733

Gene Name

inositol polyphosphate multikinase

Synonyms

2410017C19Rik

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71183574-71221715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71199298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 53 (D53V)

Ref Sequence

ENSEMBL: ENSMUSP00000078240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079252] [ENSMUST00000118381] [ENSMUST00000121446] [ENSMUST00000147277]

AlphaFold

Q7TT16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079252
AA Change: D53V

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: D53V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:IPK	110	391	1.4e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118381
AA Change: D53V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: D53V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:IPK	110	194	8.2e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121446
AA Change: D53V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: D53V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:IPK	111	392	2.6e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147277
AA Change: D53V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: D53V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:IPK	110	194	8.2e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryo size, delayed embryonic development, failure of chorioallantoic fusion and embryo turning, and a kinked and open neural tube. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,317 (GRCm39)	V184A	probably benign	Het
Aars2	A	G	17: 45,827,497 (GRCm39)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,738,033 (GRCm39)	C136Y	probably damaging	Het
Aldh1l1	A	G	6: 90,547,782 (GRCm39)	K414R	probably benign	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,436,221 (GRCm39)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,215,538 (GRCm39)	Q66L	probably damaging	Het
Atp7b	A	T	8: 22,487,351 (GRCm39)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,209,959 (GRCm39)	M437K	probably damaging	Het
Bap1	C	A	14: 30,976,126 (GRCm39)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,414,403 (GRCm39)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Btrc	A	G	19: 45,501,967 (GRCm39)		probably null	Het
C130050O18Rik	A	C	5: 139,400,129 (GRCm39)	I61L	probably benign	Het
Cfap161	A	G	7: 83,425,258 (GRCm39)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,631,815 (GRCm39)	D512G	possibly damaging	Het
Chat	T	C	14: 32,141,014 (GRCm39)	D461G	probably damaging	Het
Chl1	T	A	6: 103,668,635 (GRCm39)	V456D	probably benign	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,355,814 (GRCm39)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,844,149 (GRCm39)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,803,756 (GRCm39)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,188,723 (GRCm39)	E1756V	probably damaging	Het
Dnah1	T	C	14: 30,996,339 (GRCm39)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,150,528 (GRCm39)	E745V	probably benign	Het
Dock8	A	T	19: 25,158,927 (GRCm39)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,006,139 (GRCm39)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 22,971,664 (GRCm39)		probably null	Het
Fam89a	T	C	8: 125,478,418 (GRCm39)	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,510,634 (GRCm39)	D829E	probably benign	Het
Fxr1	C	T	3: 34,100,689 (GRCm39)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,914,836 (GRCm39)	D69G	probably damaging	Het
Gpatch2l	T	A	12: 86,335,711 (GRCm39)	S471T	probably benign	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,188,807 (GRCm39)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm39)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,784,598 (GRCm39)		probably null	Het
Ifitm10	T	C	7: 141,882,305 (GRCm39)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,363,794 (GRCm39)	W76L	probably benign	Het
Igsf21	A	T	4: 139,834,648 (GRCm39)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,871,701 (GRCm39)	M13K	probably damaging	Het
Iqcn	A	T	8: 71,169,597 (GRCm39)	E1229V	probably benign	Het
Itga8	A	G	2: 12,234,906 (GRCm39)	F451L	possibly damaging	Het
Jup	A	G	11: 100,272,560 (GRCm39)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,292,209 (GRCm39)	D65G	probably benign	Het
Klrc1	A	T	6: 129,654,184 (GRCm39)	S148T	probably benign	Het
Kmt5b	A	G	19: 3,864,147 (GRCm39)	K404E	probably damaging	Het
Krt9	A	C	11: 100,081,617 (GRCm39)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 141,850,299 (GRCm39)	S143T	unknown	Het
Kyat3	A	G	3: 142,426,162 (GRCm39)	N68D	probably damaging	Het
Kynu	A	G	2: 43,571,365 (GRCm39)	D427G	probably damaging	Het
Leo1	A	G	9: 75,353,278 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,501,892 (GRCm39)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,700,077 (GRCm39)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 65,920,573 (GRCm39)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,220,584 (GRCm39)	L14M	probably damaging	Het
Ly75	G	A	2: 60,154,196 (GRCm39)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,060,456 (GRCm39)	D764G	probably benign	Het
Mmut	A	T	17: 41,249,564 (GRCm39)	M180L	probably benign	Het
Mrgprd	A	T	7: 144,876,086 (GRCm39)	D319V	probably benign	Het
Myom3	T	C	4: 135,522,490 (GRCm39)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,161,291 (GRCm39)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,320,533 (GRCm39)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,408,999 (GRCm39)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,141,602 (GRCm39)	K196E	probably benign	Het
Nup88	T	C	11: 70,836,080 (GRCm39)	K532R	probably benign	Het
Or6k4	T	A	1: 173,964,680 (GRCm39)	Y123*	probably null	Het
Or8d6	T	A	9: 39,853,805 (GRCm39)	V83E	probably benign	Het
Or8g29-ps1	A	T	9: 39,200,589 (GRCm39)	I199N	unknown	Het
Pbxip1	A	T	3: 89,354,735 (GRCm39)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,159,151 (GRCm39)	R761S	possibly damaging	Het
Phf10	A	T	17: 15,166,575 (GRCm39)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,259,522 (GRCm39)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,373,192 (GRCm39)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,414,379 (GRCm39)	Q132L	unknown	Het
Ppa2	A	T	3: 133,036,199 (GRCm39)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,387,959 (GRCm39)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,282,684 (GRCm39)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,758,172 (GRCm39)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,984,489 (GRCm39)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,669,787 (GRCm39)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,866,187 (GRCm39)	H495Q	unknown	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,328,491 (GRCm39)	Y433C	probably damaging	Het
Rpl35rt	A	T	1: 156,193,657 (GRCm39)	I4F	probably damaging	Het
Rtn4rl1	C	T	11: 75,156,576 (GRCm39)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,578,663 (GRCm39)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,031,931 (GRCm39)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,036,422 (GRCm39)	S409P	probably benign	Het
Sowahc	A	G	10: 59,058,100 (GRCm39)	T79A	probably benign	Het
Spata31h1	G	A	10: 82,129,248 (GRCm39)	T1254I	probably benign	Het
Stk35	T	A	2: 129,643,513 (GRCm39)	C166S	probably benign	Het
Tarbp2	A	G	15: 102,430,922 (GRCm39)	H225R	probably benign	Het
Tdrd12	T	A	7: 35,188,648 (GRCm39)	K530*	probably null	Het
Terf2ip	A	G	8: 112,744,618 (GRCm39)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,391,964 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,891,720 (GRCm39)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,483,067 (GRCm39)	I67K	probably benign	Het
Ubn1	G	T	16: 4,895,080 (GRCm39)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,276,258 (GRCm39)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,714,882 (GRCm39)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,683,038 (GRCm39)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,661,577 (GRCm39)	K441R	probably benign	Het
Wapl	C	A	14: 34,458,648 (GRCm39)	D903E	probably benign	Het
Wee1	T	A	7: 109,734,001 (GRCm39)	V442D	probably benign	Het
Zan	T	C	5: 137,432,358 (GRCm39)	N2313S	unknown	Het

Other mutations in Ipmk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Ipmk	APN	10	71,212,596 (GRCm39)	missense	probably damaging	0.99
IGL01524:Ipmk	APN	10	71,208,631 (GRCm39)	missense	probably damaging	1.00
IGL01872:Ipmk	APN	10	71,208,706 (GRCm39)	missense	probably damaging	1.00
I1329:Ipmk	UTSW	10	71,217,277 (GRCm39)	missense	possibly damaging	0.46
R0282:Ipmk	UTSW	10	71,208,661 (GRCm39)	missense	probably benign	0.06
R1477:Ipmk	UTSW	10	71,217,607 (GRCm39)	missense	probably damaging	1.00
R1759:Ipmk	UTSW	10	71,217,133 (GRCm39)	missense	probably damaging	1.00
R2042:Ipmk	UTSW	10	71,199,333 (GRCm39)	missense	probably damaging	1.00
R2070:Ipmk	UTSW	10	71,208,579 (GRCm39)	nonsense	probably null
R2160:Ipmk	UTSW	10	71,217,256 (GRCm39)	missense	probably benign	0.00
R2520:Ipmk	UTSW	10	71,217,047 (GRCm39)	missense	probably damaging	1.00
R4570:Ipmk	UTSW	10	71,208,569 (GRCm39)	missense	probably benign	0.04
R5522:Ipmk	UTSW	10	71,199,304 (GRCm39)	missense	probably benign	0.30
R6941:Ipmk	UTSW	10	71,183,920 (GRCm39)	missense	probably null	1.00
R7198:Ipmk	UTSW	10	71,183,882 (GRCm39)	missense	probably damaging	1.00
R7414:Ipmk	UTSW	10	71,217,124 (GRCm39)	missense	probably damaging	0.98
R8968:Ipmk	UTSW	10	71,199,333 (GRCm39)	missense	probably damaging	1.00
R9422:Ipmk	UTSW	10	71,212,550 (GRCm39)	missense	possibly damaging	0.61
R9469:Ipmk	UTSW	10	71,201,843 (GRCm39)	missense	probably damaging	0.98
R9776:Ipmk	UTSW	10	71,217,439 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACGTCGGTTGAATGTTACAAC -3'
(R):5'- CTTAGCATTTCTGAGAGTGACAAAC -3'

Sequencing Primer
(F):5'- CGTCGGTTGAATGTTACAACTTCTAG -3'
(R):5'- ACGAGCCTTGTTTGCATGAAGC -3'

Posted On

2019-06-26