Incidental Mutation 'R3809:Ip6k1'
| ID |
275114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k1
|
| Ensembl Gene |
ENSMUSG00000032594 |
| Gene Name |
inositol hexaphosphate kinase 1 |
| Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
| MMRRC Submission |
040766-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.367)
|
| Stock # |
R3809 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107879847-107925981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107923086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 406
(V406D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047947]
[ENSMUST00000112295]
[ENSMUST00000164395]
[ENSMUST00000177158]
[ENSMUST00000175874]
[ENSMUST00000176566]
|
| AlphaFold |
Q6PD10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035214
AA Change: V406D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: V406D
| 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 |
probably benign
Transcript: ENSMUST00000164395
|
| 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: 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: ENSMUST00000176613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176566
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,650 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,262 (GRCm39) |
T287S |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,037,057 (GRCm39) |
N561K |
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,305,476 (GRCm39) |
A757S |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,799,240 (GRCm39) |
S295T |
probably benign |
Het |
| Brd4 |
T |
A |
17: 32,430,244 (GRCm39) |
K686N |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,202 (GRCm39) |
T443A |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,306,922 (GRCm39) |
T1801A |
probably damaging |
Het |
| Celsr2 |
G |
A |
3: 108,310,555 (GRCm39) |
T1509I |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
| Cog1 |
G |
T |
11: 113,545,836 (GRCm39) |
M370I |
probably benign |
Het |
| Col6a6 |
C |
G |
9: 105,657,891 (GRCm39) |
V774L |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,836 (GRCm39) |
S264R |
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,740 (GRCm39) |
V620D |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,300,690 (GRCm39) |
L214F |
possibly damaging |
Het |
| Fstl1 |
T |
A |
16: 37,647,113 (GRCm39) |
L161Q |
probably damaging |
Het |
| Hdac1 |
A |
G |
4: 129,418,113 (GRCm39) |
F94S |
probably damaging |
Het |
| Hlf |
T |
C |
11: 90,278,929 (GRCm39) |
D45G |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,072,976 (GRCm39) |
M501K |
probably damaging |
Het |
| Ighv14-4 |
A |
G |
12: 114,140,174 (GRCm39) |
Y79H |
probably damaging |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,678,664 (GRCm39) |
T944A |
probably benign |
Het |
| Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
| Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,136 (GRCm39) |
R195G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,801 (GRCm39) |
I2821T |
possibly damaging |
Het |
| Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,889,271 (GRCm39) |
K271N |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Or56b1 |
A |
T |
7: 104,285,540 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
| Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
| Pfdn1 |
C |
T |
18: 36,584,145 (GRCm39) |
G63D |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,208 (GRCm39) |
F405L |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,992,209 (GRCm39) |
M50V |
probably null |
Het |
| Plekha8 |
C |
A |
6: 54,596,334 (GRCm39) |
S198R |
probably benign |
Het |
| Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
| Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
T |
A |
10: 31,379,804 (GRCm39) |
I473F |
possibly damaging |
Het |
| Sec16a |
G |
C |
2: 26,331,825 (GRCm39) |
N63K |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,130,784 (GRCm39) |
D1240G |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
| Slc2a3 |
A |
G |
6: 122,709,388 (GRCm39) |
I337T |
probably benign |
Het |
| Tent4a |
A |
G |
13: 69,661,115 (GRCm39) |
V51A |
probably damaging |
Het |
| Tinag |
C |
T |
9: 76,859,187 (GRCm39) |
D474N |
probably benign |
Het |
| Ublcp1 |
A |
G |
11: 44,349,109 (GRCm39) |
F242L |
probably benign |
Het |
| Ucp1 |
C |
A |
8: 84,017,270 (GRCm39) |
A20D |
probably damaging |
Het |
| Ugt1a7c |
C |
T |
1: 88,023,104 (GRCm39) |
R88W |
possibly damaging |
Het |
| Wipf3 |
A |
G |
6: 54,458,780 (GRCm39) |
D45G |
probably damaging |
Het |
| Zfp592 |
G |
A |
7: 80,674,280 (GRCm39) |
A415T |
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 |
|
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 |
|
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'- TCTCAAGCACGTGGACATGG -3'
(R):5'- ATATATGGATTCCAGGCTACAGC -3'
Sequencing Primer
(F):5'- ACGTGGACATGGGGCTC -3'
(R):5'- CCCTTTAAAAGCAAGTCTGTGTGTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation