Incidental Mutation 'IGL01100:Ip6k2'
ID |
51919 |
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 # |
IGL01100
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108660995-108683536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 108682943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 305
(S305I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141605
(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 damaging
Transcript: ENSMUST00000085018
AA Change: S351I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082091 Gene: ENSMUSG00000032599 AA Change: S351I
Domain | Start | End | E-Value | Type |
Pfam:IPK
|
225 |
440 |
2.7e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193560
AA Change: S305I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141605 Gene: ENSMUSG00000032599 AA Change: S305I
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
Other mutations in Ip6k2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02831:Ip6k2
|
APN |
9 |
108,681,733 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-06-21 |