Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Ip6k1'

191213

Institutional Source

Beutler Lab

Gene Symbol

Ip6k1

Ensembl Gene

ENSMUSG00000032594

Gene Name

inositol hexaphosphate kinase 1

Synonyms

InsP6k1, Ihpk1, InsP6, 1200016D08Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107879847-107925981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107918195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 77 (E77K)

Ref Sequence

ENSEMBL: ENSMUSP00000134754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000164395] [ENSMUST00000175874] [ENSMUST00000176566] [ENSMUST00000177158]

AlphaFold

Q6PD10

Predicted Effect

probably benign
Transcript: ENSMUST00000035214
AA Change: E176K

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: E176K

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 benign
Transcript: ENSMUST00000164395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167159

Predicted Effect

probably benign
Transcript: ENSMUST00000175874

SMART Domains

Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

probably benign
Transcript: ENSMUST00000176566

Predicted Effect

probably benign
Transcript: ENSMUST00000176613

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177158
AA Change: E77K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594
AA Change: E77K

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
Pfam:IPK	108	206	1.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177396

Meta Mutation Damage Score

0.1415

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Bpifb1	T	A	2: 154,055,903 (GRCm39)		probably null	Het
Btn2a2	A	G	13: 23,666,106 (GRCm39)	V242A	probably benign	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mcoln2	A	G	3: 145,896,229 (GRCm39)		probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8b9	G	A	9: 37,766,749 (GRCm39)	V212I	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	Het

Other mutations in Ip6k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Ip6k1	APN	9	107,923,082 (GRCm39)	missense	probably benign	0.01
R0147:Ip6k1	UTSW	9	107,923,093 (GRCm39)	missense	probably damaging	1.00
R1371:Ip6k1	UTSW	9	107,923,022 (GRCm39)	missense	probably damaging	0.96
R1530:Ip6k1	UTSW	9	107,922,761 (GRCm39)	nonsense	probably null
R1716:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1717:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1719:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1741:Ip6k1	UTSW	9	107,918,183 (GRCm39)	missense	probably benign	0.43
R1745:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1747:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1901:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1902:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1903:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R1962:Ip6k1	UTSW	9	107,918,287 (GRCm39)	critical splice donor site	probably null
R2126:Ip6k1	UTSW	9	107,918,195 (GRCm39)	missense	possibly damaging	0.89
R3809:Ip6k1	UTSW	9	107,923,086 (GRCm39)	missense	probably damaging	1.00
R5000:Ip6k1	UTSW	9	107,922,798 (GRCm39)	nonsense	probably null
R6074:Ip6k1	UTSW	9	107,901,308 (GRCm39)	utr 5 prime	probably benign
R6921:Ip6k1	UTSW	9	107,901,634 (GRCm39)	missense	probably damaging	1.00
R7069:Ip6k1	UTSW	9	107,922,651 (GRCm39)	splice site	probably null
R7154:Ip6k1	UTSW	9	107,922,861 (GRCm39)	missense	probably damaging	1.00
R7218:Ip6k1	UTSW	9	107,922,781 (GRCm39)	missense	unknown
R7330:Ip6k1	UTSW	9	107,922,452 (GRCm39)	missense	possibly damaging	0.56
R7731:Ip6k1	UTSW	9	107,921,927 (GRCm39)	missense	probably damaging	1.00
R7736:Ip6k1	UTSW	9	107,922,891 (GRCm39)	missense	probably damaging	1.00
R7765:Ip6k1	UTSW	9	107,909,288 (GRCm39)	missense	possibly damaging	0.52
R7941:Ip6k1	UTSW	9	107,901,631 (GRCm39)	missense	probably damaging	1.00
R8221:Ip6k1	UTSW	9	107,923,115 (GRCm39)	missense	probably benign	0.40
R8383:Ip6k1	UTSW	9	107,921,926 (GRCm39)	missense	possibly damaging	0.81
R8815:Ip6k1	UTSW	9	107,918,211 (GRCm39)	missense	probably benign	0.38
X0021:Ip6k1	UTSW	9	107,909,389 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCTGTGTCCCTAAAGGTGACTTC -3'
(R):5'- TTTTCCCCAGTGGAACCCATGC -3'

Sequencing Primer
(F):5'- AAAGGTGACTTCTCTGATCTCTTAGC -3'
(R):5'- AACCCATGCCCCTGTGAG -3'

Posted On

2014-05-14