Incidental Mutation 'IGL02831:Ip6k2'
| ID |
361457 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ip6k2
|
| Ensembl Gene |
ENSMUSG00000032599 |
| Gene Name |
inositol hexaphosphate kinase 2 |
| Synonyms |
Ihpk2, 1500005N04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108660995-108683536 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 108681733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035218]
[ENSMUST00000085018]
[ENSMUST00000193560]
[ENSMUST00000194819]
[ENSMUST00000195323]
|
| AlphaFold |
Q80V72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035218
|
| SMART Domains |
Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
57 |
2.21e-9 |
SMART |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
Pfam:DUF2013
|
539 |
675 |
5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085018
|
| SMART Domains |
Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPK
|
225 |
440 |
2.7e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193560
|
| SMART Domains |
Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPK
|
179 |
394 |
1.6e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194819
|
| SMART Domains |
Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
52 |
3.3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195323
|
| SMART Domains |
Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
57 |
1.4e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely 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 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are resistant to radiation-induced mortality and show increased double-strand DNA break repair and incidence of induced aerodigestive tract carcinomas. Homozygotes for another null allele show increased B cell viability after radiation or neocarzinostatin treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ip6k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Ip6k2
|
APN |
9 |
108,682,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01585:Ip6k2
|
APN |
9 |
108,673,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Ip6k2
|
APN |
9 |
108,681,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
banting
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0310:Ip6k2
|
UTSW |
9 |
108,676,432 (GRCm39) |
splice site |
probably benign |
|
|
R0541:Ip6k2
|
UTSW |
9 |
108,681,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Ip6k2
|
UTSW |
9 |
108,673,500 (GRCm39) |
splice site |
probably null |
|
|
R4119:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4120:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4165:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4231:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4232:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4235:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4236:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4327:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4328:Ip6k2
|
UTSW |
9 |
108,682,847 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5019:Ip6k2
|
UTSW |
9 |
108,674,945 (GRCm39) |
intron |
probably benign |
|
|
R5466:Ip6k2
|
UTSW |
9 |
108,675,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Ip6k2
|
UTSW |
9 |
108,674,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6688:Ip6k2
|
UTSW |
9 |
108,683,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6971:Ip6k2
|
UTSW |
9 |
108,674,510 (GRCm39) |
intron |
probably benign |
|
|
R7150:Ip6k2
|
UTSW |
9 |
108,673,930 (GRCm39) |
missense |
unknown |
|
|
R8007:Ip6k2
|
UTSW |
9 |
108,682,955 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8826:Ip6k2
|
UTSW |
9 |
108,675,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9039:Ip6k2
|
UTSW |
9 |
108,681,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation