Incidental Mutation 'R5815:Ippk'
ID |
449011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ippk
|
Ensembl Gene |
ENSMUSG00000021385 |
Gene Name |
inositol 1,3,4,5,6-pentakisphosphate 2-kinase |
Synonyms |
1810043M15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 49599839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 233
(L233F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
AlphaFold |
Q6P1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021817
AA Change: L282F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021817 Gene: ENSMUSG00000021385 AA Change: L282F
Domain | Start | End | E-Value | Type |
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220447
AA Change: L233F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
A |
G |
11: 117,726,530 (GRCm39) |
D226G |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,979,215 (GRCm39) |
|
probably null |
Het |
Aldh1a1 |
C |
A |
19: 20,608,034 (GRCm39) |
D285E |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,599,820 (GRCm39) |
S1549P |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,442,171 (GRCm39) |
S68G |
probably benign |
Het |
Atp8a1 |
A |
T |
5: 67,906,414 (GRCm39) |
I500N |
probably benign |
Het |
B3gnt7 |
A |
C |
1: 86,233,510 (GRCm39) |
D135A |
probably benign |
Het |
Bms1 |
A |
T |
6: 118,381,240 (GRCm39) |
L692H |
probably damaging |
Het |
Cdk17 |
T |
A |
10: 93,064,559 (GRCm39) |
V276E |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,393,970 (GRCm39) |
E2059V |
possibly damaging |
Het |
Cpxm2 |
C |
A |
7: 131,645,839 (GRCm39) |
G693V |
probably damaging |
Het |
Crocc |
A |
T |
4: 140,762,507 (GRCm39) |
V661E |
probably damaging |
Het |
D1Pas1 |
A |
T |
1: 186,700,206 (GRCm39) |
N45I |
probably damaging |
Het |
Ddx19a |
C |
T |
8: 111,705,781 (GRCm39) |
W223* |
probably null |
Het |
Ddx60 |
C |
A |
8: 62,416,756 (GRCm39) |
S567Y |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,401,176 (GRCm39) |
N363K |
probably damaging |
Het |
Gm57859 |
C |
A |
11: 113,578,783 (GRCm39) |
|
probably null |
Het |
Gpr151 |
G |
A |
18: 42,712,450 (GRCm39) |
T76M |
probably benign |
Het |
Inhbc |
C |
T |
10: 127,193,318 (GRCm39) |
V233I |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,862,847 (GRCm39) |
V2972A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,612 (GRCm39) |
Q271R |
probably benign |
Het |
Mia2 |
A |
T |
12: 59,220,892 (GRCm39) |
K1083N |
possibly damaging |
Het |
Mphosph9 |
A |
C |
5: 124,453,481 (GRCm39) |
L277R |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,099,341 (GRCm39) |
F1694I |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,015 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2w6 |
T |
C |
13: 21,842,707 (GRCm39) |
Y262C |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,347,156 (GRCm39) |
T984A |
probably benign |
Het |
Pcdh20 |
T |
C |
14: 88,708,312 (GRCm39) |
S39G |
probably benign |
Het |
Pdia3 |
T |
A |
2: 121,266,892 (GRCm39) |
Y467* |
probably null |
Het |
Ptpn13 |
C |
A |
5: 103,745,556 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,152,431 (GRCm39) |
M2345T |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,602,603 (GRCm39) |
I20N |
probably benign |
Het |
Satb1 |
A |
G |
17: 52,089,981 (GRCm39) |
S289P |
possibly damaging |
Het |
Scd4 |
A |
T |
19: 44,326,003 (GRCm39) |
H119L |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,256,574 (GRCm39) |
T27A |
probably benign |
Het |
Slc39a14 |
A |
T |
14: 70,544,194 (GRCm39) |
I464N |
probably damaging |
Het |
Slc4a8 |
T |
A |
15: 100,686,092 (GRCm39) |
V220E |
probably benign |
Het |
Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
Tmf1 |
T |
A |
6: 97,150,364 (GRCm39) |
T448S |
probably benign |
Het |
Tspan33 |
G |
A |
6: 29,710,688 (GRCm39) |
R87Q |
probably damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,326,464 (GRCm39) |
M250L |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,050 (GRCm39) |
V245D |
probably damaging |
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 |
R1621:Ippk
|
UTSW |
13 |
49,615,044 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
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'- TCTGAGGAGTCACTGTGCAG -3'
(R):5'- TAGGCTCCTGCTGAAAGGAC -3'
Sequencing Primer
(F):5'- TGTGCAGCAACCCTGACTAG -3'
(R):5'- TGCTGAAAGGACTGGCTTCAC -3'
|
Posted On |
2016-12-20 |