Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Ip6k1'

596268

Institutional Source

Beutler Lab

Gene Symbol

Ip6k1

Ensembl Gene

ENSMUSG00000032594

Gene Name

inositol hexaphosphate kinase 1

Synonyms

InsP6k1, Ihpk1, InsP6, 1200016D08Rik

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

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

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107879847-107925981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107922891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 341 (G341V)

Ref Sequence

ENSEMBL: ENSMUSP00000035214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000047947] [ENSMUST00000112295] [ENSMUST00000164395] [ENSMUST00000175874] [ENSMUST00000176566] [ENSMUST00000177158]

AlphaFold

Q6PD10

Predicted Effect

probably damaging
Transcript: ENSMUST00000035214
AA Change: G341V

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

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: G341V

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: ENSMUST00000047947

SMART Domains

Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	234	8e-48	PFAM
Pfam:NTP_transf_3	3	202	6.6e-12	PFAM
Pfam:Hexapep	259	294	1.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112295

SMART Domains

Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	235	2.1e-51	PFAM
Pfam:NTP_transf_3	3	199	1.1e-11	PFAM
Pfam:Hexapep	259	294	9.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164395

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

probably benign
Transcript: ENSMUST00000176566

Predicted Effect

probably benign
Transcript: ENSMUST00000176613

Predicted Effect

probably benign
Transcript: ENSMUST00000177158

SMART Domains

Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,359,123 (GRCm39)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,731,965 (GRCm39)	F204S	probably benign	Het
Apoa2	T	C	1: 171,053,741 (GRCm39)	L72P	probably damaging	Het
Arhgef10	A	T	8: 15,030,583 (GRCm39)	K987*	probably null	Het
Arrb1	A	G	7: 99,188,981 (GRCm39)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm39)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,229,084 (GRCm39)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,801,072 (GRCm39)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,154,025 (GRCm39)	G261R	probably benign	Het
Cd53	T	A	3: 106,675,252 (GRCm39)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,103,519 (GRCm39)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,480,636 (GRCm39)	V256L	unknown	Het
Cilp2	A	G	8: 70,334,071 (GRCm39)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,988,187 (GRCm39)	T107A	possibly damaging	Het
Dhx16	T	A	17: 36,192,568 (GRCm39)	W167R	possibly damaging	Het
Dkk2	T	G	3: 131,883,775 (GRCm39)	L225R	probably damaging	Het
Dmbt1	A	T	7: 130,718,625 (GRCm39)	D1782V	unknown	Het
Ebag9	A	T	15: 44,491,800 (GRCm39)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,610,382 (GRCm39)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,190,473 (GRCm39)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 154,792,747 (GRCm39)	I427L	probably benign	Het
Ganc	A	T	2: 120,264,295 (GRCm39)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm39)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,589,747 (GRCm39)	V534E	probably damaging	Het
Gm7324	T	A	14: 43,952,256 (GRCm39)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,491,549 (GRCm39)	N733K	possibly damaging	Het
Hivep3	C	T	4: 119,952,740 (GRCm39)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,683,121 (GRCm39)	V266G	probably benign	Het
Itga3	G	T	11: 94,967,029 (GRCm39)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,107,147 (GRCm39)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,578,128 (GRCm39)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,388,285 (GRCm39)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,460,705 (GRCm39)	T444A	probably benign	Het
M1ap	T	C	6: 82,982,565 (GRCm39)	I283T	probably benign	Het
Mapre2	T	C	18: 24,011,012 (GRCm39)	S207P	probably benign	Het
Moxd1	T	C	10: 24,158,608 (GRCm39)	F421L	probably damaging	Het
Nos2	T	A	11: 78,813,192 (GRCm39)	C33*	probably null	Het
Or14j4	A	T	17: 37,921,303 (GRCm39)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,530,197 (GRCm39)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,494,758 (GRCm39)	T7A	probably damaging	Het
Otud4	T	C	8: 80,382,394 (GRCm39)	I201T	possibly damaging	Het
Pank4	T	C	4: 155,054,204 (GRCm39)	Y128H	probably benign	Het
Phf11	C	T	14: 59,488,594 (GRCm39)	D68N	probably benign	Het
Pitpnm2	A	G	5: 124,261,093 (GRCm39)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,946,991 (GRCm39)	V8A	probably benign	Het
Por	A	G	5: 135,759,976 (GRCm39)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,223,500 (GRCm39)	L14*	probably null	Het
Ptgis	A	G	2: 167,033,891 (GRCm39)	F459S	unknown	Het
Ptpru	T	C	4: 131,515,693 (GRCm39)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Slc18a1	A	G	8: 69,518,206 (GRCm39)		probably null	Het
Slc27a3	A	G	3: 90,296,740 (GRCm39)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,540,717 (GRCm39)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Syncrip	A	G	9: 88,343,721 (GRCm39)		probably null	Het
Taar4	T	A	10: 23,836,897 (GRCm39)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,116,923 (GRCm39)	G237D	probably benign	Het
Tle1	T	C	4: 72,117,571 (GRCm39)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,847,875 (GRCm39)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm39)	F698L	probably benign	Het
Ttn	T	A	2: 76,739,574 (GRCm39)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,600,757 (GRCm39)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,059,757 (GRCm39)	A321E	unknown	Het
Zdbf2	T	A	1: 63,347,166 (GRCm39)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,146,176 (GRCm39)	N61K	probably null	Het
Zfp867	C	T	11: 59,354,016 (GRCm39)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,132,319 (GRCm39)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,923,510 (GRCm39)	Q95*	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
R1718: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
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'- GCAGGAATAAGTACTATGGCCG -3'
(R):5'- ATCGTGAACAGTGGGGTCATC -3'

Sequencing Primer
(F):5'- ATAAGTACTATGGCCGTGGACTCTC -3'
(R):5'- TCATCCCGGAAGCCCTTGAATG -3'

Posted On

2019-11-26