Incidental Mutation 'R1621:Ippk'
| ID |
174677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ippk
|
| Ensembl Gene |
ENSMUSG00000021385 |
| Gene Name |
inositol 1,3,4,5,6-pentakisphosphate 2-kinase |
| Synonyms |
1810043M15Rik |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49615044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 427
(S427P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000021818]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
| AlphaFold |
Q6P1C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021817
AA Change: S476P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: S476P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220447
AA Change: S427P
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a gene trap insertion die prior to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
Het |
|
| Other mutations in Ippk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Ippk
|
APN |
13 |
49,602,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01994:Ippk
|
APN |
13 |
49,612,093 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02165:Ippk
|
APN |
13 |
49,600,011 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02577:Ippk
|
APN |
13 |
49,615,134 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03181:Ippk
|
APN |
13 |
49,595,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Ippk
|
UTSW |
13 |
49,588,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Ippk
|
UTSW |
13 |
49,584,341 (GRCm39) |
splice site |
probably null |
|
|
R0811:Ippk
|
UTSW |
13 |
49,596,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Ippk
|
UTSW |
13 |
49,596,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Ippk
|
UTSW |
13 |
49,615,069 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1930:Ippk
|
UTSW |
13 |
49,603,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Ippk
|
UTSW |
13 |
49,599,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Ippk
|
UTSW |
13 |
49,599,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Ippk
|
UTSW |
13 |
49,590,181 (GRCm39) |
splice site |
probably null |
|
|
R7069:Ippk
|
UTSW |
13 |
49,615,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7258:Ippk
|
UTSW |
13 |
49,587,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7337:Ippk
|
UTSW |
13 |
49,602,767 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7466:Ippk
|
UTSW |
13 |
49,585,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7794:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R7848:Ippk
|
UTSW |
13 |
49,596,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8112:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8113:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8115:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8116:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8117:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8118:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8245:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8378:Ippk
|
UTSW |
13 |
49,589,055 (GRCm39) |
nonsense |
probably null |
|
|
R8395:Ippk
|
UTSW |
13 |
49,615,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8549:Ippk
|
UTSW |
13 |
49,615,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Ippk
|
UTSW |
13 |
49,603,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9351:Ippk
|
UTSW |
13 |
49,615,107 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTATGGCATAGCAGTCACTTACC -3'
(R):5'- AGTTTCAAAGACACCGCAGGGG -3'
Sequencing Primer
(F):5'- ATAGCAGTCACTTACCTGTGC -3'
(R):5'- GACCTTATGGAGAACTAATGTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation