Incidental Mutation 'R2160:Ipmk'
| ID |
235121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipmk
|
| Ensembl Gene |
ENSMUSG00000060733 |
| Gene Name |
inositol polyphosphate multikinase |
| Synonyms |
2410017C19Rik |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
71183574-71221715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71217256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079252]
[ENSMUST00000118381]
[ENSMUST00000121446]
[ENSMUST00000147277]
|
| AlphaFold |
Q7TT16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079252
AA Change: T267A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: T267A
| 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 benign
Transcript: ENSMUST00000118381
|
| SMART Domains |
Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
| 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 benign
Transcript: ENSMUST00000121446
AA Change: T268A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: T268A
| 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 benign
Transcript: ENSMUST00000147277
|
| SMART Domains |
Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
| Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCGCCAGTATTCAGAAG -3'
(R):5'- AGTTGGGCAAGCACGTTTCC -3'
Sequencing Primer
(F):5'- CCGCCAGTATTCAGAAGGTAGAG -3'
(R):5'- AAGTGTTCCTGGGACATGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation