Incidental Mutation 'R1371:Ip6k1'
ID |
157323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ip6k1
|
Ensembl Gene |
ENSMUSG00000032594 |
Gene Name |
inositol hexaphosphate kinase 1 |
Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
MMRRC Submission |
039435-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.367)
|
Stock # |
R1371 (G1)
|
Quality Score |
141 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
107879847-107925981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107923022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 385
(V385M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047947]
[ENSMUST00000112295]
[ENSMUST00000177158]
[ENSMUST00000176566]
[ENSMUST00000164395]
[ENSMUST00000175874]
|
AlphaFold |
Q6PD10 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035214
AA Change: V385M
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035214 Gene: ENSMUSG00000032594 AA Change: V385M
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 |
noncoding transcript
Transcript: ENSMUST00000137284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177396
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176566
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
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 |
|
Meta Mutation Damage Score |
0.7788 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 89.0%
|
Validation Efficiency |
100% (55/55) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,844,379 (GRCm39) |
D884V |
probably damaging |
Het |
Acvr2a |
C |
T |
2: 48,789,628 (GRCm39) |
T457M |
probably damaging |
Het |
Akr1b10 |
C |
T |
6: 34,369,394 (GRCm39) |
T208I |
probably benign |
Het |
Aldh16a1 |
G |
T |
7: 44,796,674 (GRCm39) |
T275K |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Asgr1 |
T |
G |
11: 69,946,923 (GRCm39) |
C56W |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,860,918 (GRCm39) |
I335T |
probably damaging |
Het |
BC061237 |
A |
G |
14: 44,741,762 (GRCm39) |
|
probably benign |
Het |
Bdh1 |
G |
T |
16: 31,275,720 (GRCm39) |
K280N |
probably benign |
Het |
Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,172 (GRCm39) |
E285G |
probably benign |
Het |
Ces1f |
C |
T |
8: 94,006,277 (GRCm39) |
G18R |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,824,045 (GRCm39) |
I109L |
possibly damaging |
Het |
Cma2 |
T |
C |
14: 56,210,283 (GRCm39) |
L56S |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,382 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
C |
3: 121,526,159 (GRCm39) |
C241R |
probably damaging |
Het |
Fhdc1 |
T |
A |
3: 84,352,310 (GRCm39) |
S972C |
probably damaging |
Het |
Heatr1 |
T |
G |
13: 12,432,513 (GRCm39) |
I1086R |
possibly damaging |
Het |
Hsh2d |
A |
T |
8: 72,950,738 (GRCm39) |
|
probably benign |
Het |
Ice1 |
T |
C |
13: 70,744,340 (GRCm39) |
Y2081C |
probably damaging |
Het |
Il1rl1 |
A |
G |
1: 40,481,873 (GRCm39) |
N194D |
probably damaging |
Het |
Lig1 |
G |
A |
7: 13,022,611 (GRCm39) |
R147Q |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,537,165 (GRCm39) |
V41I |
probably damaging |
Het |
Macroh2a2 |
A |
T |
10: 61,585,112 (GRCm39) |
D177E |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,794,424 (GRCm39) |
V1201E |
probably damaging |
Het |
Myof |
T |
C |
19: 37,892,116 (GRCm39) |
|
probably benign |
Het |
Nbas |
G |
T |
12: 13,532,379 (GRCm39) |
|
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,840,719 (GRCm39) |
I321T |
possibly damaging |
Het |
Nek10 |
G |
A |
14: 14,850,983 (GRCm38) |
G343R |
probably damaging |
Het |
Or2a7 |
A |
T |
6: 43,151,234 (GRCm39) |
T105S |
probably benign |
Het |
Or2y1 |
T |
A |
11: 49,385,650 (GRCm39) |
C97S |
probably damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,122 (GRCm39) |
I200N |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,253,595 (GRCm39) |
S141P |
probably benign |
Het |
Pigm |
A |
T |
1: 172,204,381 (GRCm39) |
Q39L |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,846,750 (GRCm39) |
I88F |
probably benign |
Het |
Prss16 |
T |
A |
13: 22,192,856 (GRCm39) |
|
probably benign |
Het |
Psmc4 |
G |
A |
7: 27,742,222 (GRCm39) |
|
probably benign |
Het |
Ptger3 |
T |
A |
3: 157,273,365 (GRCm39) |
C237* |
probably null |
Het |
Recql |
G |
A |
6: 142,318,601 (GRCm39) |
T214M |
probably damaging |
Het |
Rfx7 |
T |
A |
9: 72,526,857 (GRCm39) |
V1349D |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,964,041 (GRCm39) |
S1740P |
probably damaging |
Het |
Rrm2b |
A |
T |
15: 37,947,053 (GRCm39) |
S83T |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,394 (GRCm39) |
Y149H |
probably benign |
Het |
Smad1 |
A |
G |
8: 80,076,207 (GRCm39) |
|
probably benign |
Het |
Snrnp70 |
T |
C |
7: 45,030,129 (GRCm39) |
|
probably benign |
Het |
Spef2 |
C |
A |
15: 9,725,194 (GRCm39) |
|
probably benign |
Het |
Sptlc1 |
T |
C |
13: 53,505,660 (GRCm39) |
T253A |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,959,784 (GRCm39) |
Y595C |
possibly damaging |
Het |
Zfp382 |
T |
C |
7: 29,833,114 (GRCm39) |
V255A |
probably benign |
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 |
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 |
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'- AGCCAATCCTGAGCAAACTGCG -3'
(R):5'- AGCAAGTTCAGAGCAATGGTCCC -3'
Sequencing Primer
(F):5'- TCAAAGCCGTACTGGAGC -3'
(R):5'- AGCAATGGTCCCTGCCTG -3'
|
Posted On |
2014-02-18 |