Incidental Mutation 'IGL01524:Ipmk'
| ID |
89491 |
| 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 # |
IGL01524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
71183574-71221715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71208631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 140
(A140E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079252]
[ENSMUST00000118381]
[ENSMUST00000121446]
[ENSMUST00000147277]
|
| AlphaFold |
Q7TT16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079252
AA Change: A139E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: A139E
| 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: A139E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: A139E
| 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: A140E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: A140E
| 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 damaging
Transcript: ENSMUST00000147277
AA Change: A139E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: A139E
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
| Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
| Gipc2 |
A |
G |
3: 151,843,214 (GRCm39) |
I141T |
probably damaging |
Het |
| Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
| Kynu |
A |
G |
2: 43,561,394 (GRCm39) |
D310G |
possibly damaging |
Het |
| Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,491,979 (GRCm39) |
H31R |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
| Spats2 |
C |
T |
15: 99,110,127 (GRCm39) |
A508V |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
| Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,519 (GRCm39) |
N67K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
possibly damaging |
Het |
|
| Other mutations in Ipmk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Ipmk
|
APN |
10 |
71,212,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-12-03 |
Incidental Mutation