Incidental Mutation 'R4081:Ippk'
| ID |
316900 |
| 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 |
040977-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49599852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 237
(L237Q)
|
| 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: L286Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: L286Q
| 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: L237Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Meta Mutation Damage Score |
0.8594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
| Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
| Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
| Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,002 (GRCm39) |
I193N |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
| Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Myd88 |
G |
T |
9: 119,169,053 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
| Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
| Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
| Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
| Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
| Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
| Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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'- GGGATTCTTCTGAGGAGTCAC -3'
(R):5'- CTGCTGAAAGGACTGGCTTC -3'
Sequencing Primer
(F):5'- TGACTAGGCTCGTCTGAGAACAC -3'
(R):5'- TGAAAGGACTGGCTTCACAGACTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation