Incidental Mutation 'IGL01382:Ipmk'
| ID |
78903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ipmk
|
| Ensembl Gene |
ENSMUSG00000060733 |
| Gene Name |
inositol polyphosphate multikinase |
| Synonyms |
2410017C19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
71183574-71221715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71212596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 186
(T186M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079252]
[ENSMUST00000118381]
[ENSMUST00000121446]
[ENSMUST00000147277]
|
| AlphaFold |
Q7TT16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079252
AA Change: T186M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: T186M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
110 |
391 |
1.4e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118381
AA Change: T186M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: T186M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
110 |
194 |
8.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121446
AA Change: T187M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: T187M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
111 |
392 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141984
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147277
AA Change: T186M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: T186M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
110 |
194 |
8.2e-33 |
PFAM |
|
| 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 member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryo size, delayed embryonic development, failure of chorioallantoic fusion and embryo turning, and a kinked and open neural tube. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ipmk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Ipmk
|
APN |
10 |
71,208,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Ipmk
|
APN |
10 |
71,208,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Ipmk
|
UTSW |
10 |
71,217,277 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0282:Ipmk
|
UTSW |
10 |
71,208,661 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1477:Ipmk
|
UTSW |
10 |
71,217,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Ipmk
|
UTSW |
10 |
71,217,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Ipmk
|
UTSW |
10 |
71,199,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Ipmk
|
UTSW |
10 |
71,208,579 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Ipmk
|
UTSW |
10 |
71,217,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2520:Ipmk
|
UTSW |
10 |
71,217,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Ipmk
|
UTSW |
10 |
71,208,569 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5522:Ipmk
|
UTSW |
10 |
71,199,304 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6941:Ipmk
|
UTSW |
10 |
71,183,920 (GRCm39) |
missense |
probably null |
1.00 |
|
R7198:Ipmk
|
UTSW |
10 |
71,183,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Ipmk
|
UTSW |
10 |
71,199,298 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7414:Ipmk
|
UTSW |
10 |
71,217,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8968:Ipmk
|
UTSW |
10 |
71,199,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Ipmk
|
UTSW |
10 |
71,212,550 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9469:Ipmk
|
UTSW |
10 |
71,201,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9776:Ipmk
|
UTSW |
10 |
71,217,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-11-05 |
Incidental Mutation