Incidental Mutation 'R6971:Ip6k2'
ID |
542252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ip6k2
|
Ensembl Gene |
ENSMUSG00000032599 |
Gene Name |
inositol hexaphosphate kinase 2 |
Synonyms |
Ihpk2, 1500005N04Rik |
MMRRC Submission |
045081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6971 (G1)
|
Quality Score |
157.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108660995-108683536 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 108674510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085018]
[ENSMUST00000192028]
[ENSMUST00000192226]
[ENSMUST00000192307]
[ENSMUST00000193560]
[ENSMUST00000194782]
[ENSMUST00000194875]
[ENSMUST00000195514]
|
AlphaFold |
Q80V72 |
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: ENSMUST00000192028
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193055
|
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: ENSMUST00000194782
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194875
AA Change: L77P
|
SMART Domains |
Protein: ENSMUSP00000142239 Gene: ENSMUSG00000032599 AA Change: L77P
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195514
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
Validation Efficiency |
96% (47/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGCATGTGGTGGGACTG -3'
(R):5'- CTGGACAGTCTTTGAGAAGGG -3'
Sequencing Primer
(F):5'- ACTGGGGGTGTTGGAGACC -3'
(R):5'- TGAGGTGGGAGCACTTCAGC -3'
|
Posted On |
2018-11-28 |