Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Ipmk'

540556

Institutional Source

Beutler Lab

Gene Symbol

Ipmk

Ensembl Gene

ENSMUSG00000060733

Gene Name

inositol polyphosphate multikinase

Synonyms

2410017C19Rik

MMRRC Submission

045055-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6941 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

71183574-71221715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71183920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 47 (G47S)

Ref Sequence

ENSEMBL: ENSMUSP00000113083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045887] [ENSMUST00000079252] [ENSMUST00000118381] [ENSMUST00000121446] [ENSMUST00000121446] [ENSMUST00000147277]

AlphaFold

Q7TT16

Predicted Effect

probably benign
Transcript: ENSMUST00000045887

SMART Domains

Protein: ENSMUSP00000043559
Gene: ENSMUSG00000037710

Domain	Start	End	E-Value	Type
Pfam:MitoNEET_N	6	41	1e-12	PFAM
ZnF_CDGSH	55	93	6.98e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000079252
AA Change: G47S

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: G47S

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 null
Transcript: ENSMUST00000118381
AA Change: G47S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: G47S

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 null
Transcript: ENSMUST00000121446
AA Change: G47S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: G47S

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 null
Transcript: ENSMUST00000121446
AA Change: G47S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: G47S

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: G47S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: G47S

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: 99.9%
10x: 99.1%
20x: 97.0%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,501,203 (GRCm39)	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cabp1	A	T	5: 115,310,960 (GRCm39)	D295E	probably damaging	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,602,213 (GRCm39)	H48Q	possibly damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rab11fip1	G	A	8: 27,646,303 (GRCm39)	Q258*	probably null	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,254,346 (GRCm39)	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	probably benign	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
R7198:Ipmk	UTSW	10	71,183,882 (GRCm39)	missense	probably damaging	1.00
R7203:Ipmk	UTSW	10	71,199,298 (GRCm39)	missense	possibly damaging	0.67
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'- TGTTGCGCATGCTCAGAGTG -3'
(R):5'- GGACAGCTAAGACAGTGACC -3'

Sequencing Primer
(F):5'- CCGGGGTTCAGAGTGCG -3'
(R):5'- CAGCTAAGACAGTGACCCGGAG -3'

Posted On

2018-11-06