Mutagenetix > Incidental Mutations

Incidental Mutation 'R7941:Ip6k1'

649059

Institutional Source

Beutler Lab

Gene Symbol

Ip6k1

Ensembl Gene

ENSMUSG00000032594

Gene Name

inositol hexaphosphate kinase 1

Synonyms

1200016D08Rik, InsP6, Ihpk1, InsP6k1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108002501-108048782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108024432 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 69 (F69L)

Ref Sequence

ENSEMBL: ENSMUSP00000035214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000164395] [ENSMUST00000175874] [ENSMUST00000176356] [ENSMUST00000176566] [ENSMUST00000176854]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035214
AA Change: F69L

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

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: F69L

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC
Pfam:IPK	207	426	2.2e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164395
AA Change: F69L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000175874
AA Change: F69L

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

SMART Domains

Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594
AA Change: F69L

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176356

Predicted Effect

probably benign
Transcript: ENSMUST00000176459

Predicted Effect

probably benign
Transcript: ENSMUST00000176566

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176854
AA Change: F69L

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594
AA Change: F69L

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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 may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired glucose tolerance, decreased insulin levels, bilateral epididymal aspermia, and testicular degeneration in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	Het

Other mutations in Ip6k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Ip6k1	APN	9	108045883	missense	probably benign	0.01
R0147:Ip6k1	UTSW	9	108045894	missense	probably damaging	1.00
R1371:Ip6k1	UTSW	9	108045823	missense	probably damaging	0.96
R1530:Ip6k1	UTSW	9	108045562	nonsense	probably null
R1716:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1717:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1718:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1719:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1741:Ip6k1	UTSW	9	108040984	missense	probably benign	0.43
R1745:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1747:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1901:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1902:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1903:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R1962:Ip6k1	UTSW	9	108041088	critical splice donor site	probably null
R2126:Ip6k1	UTSW	9	108040996	missense	possibly damaging	0.89
R3809:Ip6k1	UTSW	9	108045887	missense	probably damaging	1.00
R5000:Ip6k1	UTSW	9	108045599	nonsense	probably null
R6074:Ip6k1	UTSW	9	108024109	utr 5 prime	probably benign
R6921:Ip6k1	UTSW	9	108024435	missense	probably damaging	1.00
R7069:Ip6k1	UTSW	9	108045452	splice site	probably null
R7154:Ip6k1	UTSW	9	108045662	missense	probably damaging	1.00
R7218:Ip6k1	UTSW	9	108045582	missense	unknown
R7330:Ip6k1	UTSW	9	108045253	missense	possibly damaging	0.56
R7731:Ip6k1	UTSW	9	108044728	missense	probably damaging	1.00
R7736:Ip6k1	UTSW	9	108045692	missense	probably damaging	1.00
R7765:Ip6k1	UTSW	9	108032089	missense	possibly damaging	0.52
R8221:Ip6k1	UTSW	9	108045916	missense	probably benign	0.40
R8383:Ip6k1	UTSW	9	108044727	missense	possibly damaging	0.81
X0021:Ip6k1	UTSW	9	108032190	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAACCATGGAAGTGGGGC -3'
(R):5'- CAATAGGCTTTTCTCCACCAATG -3'

Sequencing Primer
(F):5'- CCATGGAAGTGGGGCAGTATG -3'
(R):5'- TGGGTCTACCTAATGTCAATTTTTC -3'

Posted On

2020-09-15