Incidental Mutation 'R1747:Ip6k1'
ID |
194060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ip6k1
|
Ensembl Gene |
ENSMUSG00000032594 |
Gene Name |
inositol hexaphosphate kinase 1 |
Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
MMRRC Submission |
039779-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.367)
|
Stock # |
R1747 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
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 |
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
Meta Mutation Damage Score |
0.1415 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (65/67) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
C |
T |
8: 13,608,814 (GRCm39) |
S117N |
probably damaging |
Het |
Acat3 |
A |
G |
17: 13,143,695 (GRCm39) |
I349T |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,230,981 (GRCm39) |
N552S |
probably benign |
Het |
Ak3 |
G |
T |
19: 29,000,261 (GRCm39) |
P217T |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,378,751 (GRCm39) |
D1000V |
probably benign |
Het |
Ap1m2 |
A |
G |
9: 21,216,982 (GRCm39) |
M118T |
probably damaging |
Het |
Arhgap28 |
C |
A |
17: 68,208,304 (GRCm39) |
A105S |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,073,332 (GRCm39) |
E1368G |
probably damaging |
Het |
Armc7 |
G |
A |
11: 115,379,583 (GRCm39) |
V94I |
probably benign |
Het |
Asxl1 |
C |
A |
2: 153,235,374 (GRCm39) |
T223N |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,599,865 (GRCm39) |
S119P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,597,907 (GRCm39) |
K1078E |
probably damaging |
Het |
Cpne8 |
G |
A |
15: 90,469,118 (GRCm39) |
T158I |
probably benign |
Het |
Csn1s2b |
T |
C |
5: 87,964,529 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,041,568 (GRCm39) |
I371V |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,725,675 (GRCm39) |
F710L |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,310,773 (GRCm39) |
D126G |
probably damaging |
Het |
Dnm3 |
G |
A |
1: 162,141,153 (GRCm39) |
R369C |
probably damaging |
Het |
Dst |
A |
C |
1: 34,199,790 (GRCm39) |
Q86P |
probably damaging |
Het |
Ern2 |
C |
A |
7: 121,773,042 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
A |
7: 121,773,043 (GRCm39) |
|
probably null |
Het |
Exoc6 |
T |
A |
19: 37,628,217 (GRCm39) |
|
probably null |
Het |
Glg1 |
G |
A |
8: 111,924,305 (GRCm39) |
R228C |
probably damaging |
Het |
Gm4736 |
G |
A |
6: 132,092,633 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn2 |
G |
C |
2: 31,347,997 (GRCm39) |
G4881A |
probably benign |
Het |
Htr2a |
T |
G |
14: 74,943,593 (GRCm39) |
F391C |
probably damaging |
Het |
Htr5b |
A |
T |
1: 121,455,647 (GRCm39) |
V91E |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,454,922 (GRCm39) |
H101L |
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,765,778 (GRCm39) |
H608L |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,322,966 (GRCm39) |
V1150A |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,932,007 (GRCm39) |
F3545S |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,941,489 (GRCm39) |
D822G |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,385,899 (GRCm39) |
S721N |
probably benign |
Het |
Nog |
T |
A |
11: 89,192,408 (GRCm39) |
M147L |
probably benign |
Het |
Npr1 |
C |
T |
3: 90,365,976 (GRCm39) |
C605Y |
possibly damaging |
Het |
Or7e173 |
A |
C |
9: 19,938,613 (GRCm39) |
V207G |
probably benign |
Het |
Or8k21 |
G |
A |
2: 86,145,211 (GRCm39) |
L140F |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,892,457 (GRCm39) |
S10G |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,071,655 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,627 (GRCm39) |
V371I |
possibly damaging |
Het |
Prom1 |
C |
T |
5: 44,164,373 (GRCm39) |
V703I |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Scnn1g |
A |
T |
7: 121,359,686 (GRCm39) |
I390F |
probably damaging |
Het |
Scrt2 |
C |
T |
2: 151,935,638 (GRCm39) |
H264Y |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,302,887 (GRCm39) |
E661K |
possibly damaging |
Het |
Skic2 |
G |
T |
17: 35,066,782 (GRCm39) |
P162H |
probably benign |
Het |
Slc10a5 |
G |
T |
3: 10,400,451 (GRCm39) |
Q70K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,129 (GRCm39) |
V484A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,770,353 (GRCm39) |
S630T |
probably benign |
Het |
Thyn1 |
A |
C |
9: 26,916,509 (GRCm39) |
Q98P |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,614,443 (GRCm39) |
R203G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,708,860 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,179 (GRCm39) |
S99L |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,781,605 (GRCm39) |
H380L |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,375 (GRCm39) |
C646S |
probably damaging |
Het |
Wnt10b |
A |
G |
15: 98,672,214 (GRCm39) |
S168P |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,963,117 (GRCm39) |
M748T |
possibly damaging |
Het |
Zfp804b |
C |
G |
5: 6,820,217 (GRCm39) |
E913Q |
probably benign |
Het |
Zfp974 |
G |
T |
7: 27,610,506 (GRCm39) |
F406L |
possibly damaging |
Het |
Zic4 |
G |
A |
9: 91,266,199 (GRCm39) |
C274Y |
probably damaging |
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 |
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 |
2014-05-23 |