Incidental Mutation 'R8378:Ippk'
| ID |
646826 |
| 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 |
067746-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 49589055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 183
(C183*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
| AlphaFold |
Q6P1C1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021817
AA Change: C183*
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: C183*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220447
AA Change: C134*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,886,967 (GRCm39) |
I491T |
probably damaging |
Het |
| Aadacl4fm4 |
C |
G |
4: 144,397,169 (GRCm39) |
V188L |
probably benign |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,601,445 (GRCm39) |
E82G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,003,248 (GRCm39) |
N93D |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,509,021 (GRCm39) |
R224C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,714 (GRCm39) |
C599R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,490 (GRCm39) |
N1261D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,989,709 (GRCm39) |
D1726G |
probably damaging |
Het |
| Ceacam2 |
G |
A |
7: 25,217,597 (GRCm39) |
A306V |
probably damaging |
Het |
| Crebrf |
G |
T |
17: 26,981,263 (GRCm39) |
L546F |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,069,941 (GRCm39) |
F370S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,699 (GRCm39) |
T487A |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,025,006 (GRCm39) |
A485V |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,708,195 (GRCm39) |
V1479A |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,765 (GRCm39) |
R427W |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,741,075 (GRCm39) |
W28L |
|
Het |
| Golga4 |
A |
G |
9: 118,387,390 (GRCm39) |
D1504G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,757 (GRCm39) |
S238G |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,378 (GRCm39) |
V83D |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,533,142 (GRCm39) |
T419A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,797,283 (GRCm39) |
H129R |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,807,299 (GRCm39) |
V12E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,467,201 (GRCm39) |
G361C |
possibly damaging |
Het |
| Klhl30 |
A |
T |
1: 91,285,494 (GRCm39) |
K339* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,159,157 (GRCm39) |
I359V |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufaf2 |
C |
A |
13: 108,189,387 (GRCm39) |
L120F |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,545 (GRCm39) |
V961A |
possibly damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,394 (GRCm39) |
Y77N |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,678 (GRCm39) |
V135A |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,487,649 (GRCm39) |
P1785S |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,504,234 (GRCm39) |
Y170H |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,709,581 (GRCm39) |
D482V |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,668,964 (GRCm39) |
Y28C |
probably damaging |
Het |
| Sgce |
G |
C |
6: 4,689,760 (GRCm39) |
L394V |
probably damaging |
Het |
| Sgce |
T |
A |
6: 4,691,525 (GRCm39) |
Y350F |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,414,597 (GRCm39) |
V39A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,976,405 (GRCm39) |
I1148F |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,029 (GRCm39) |
R64* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,108 (GRCm39) |
V725E |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,562 (GRCm39) |
H75L |
unknown |
Het |
| Zwilch |
A |
T |
9: 64,060,240 (GRCm39) |
V366D |
possibly 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 |
|
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 |
|
|
|
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'- TTCCAAATATTGCCTGCCTGAGG -3'
(R):5'- GAGTAGAGCACACAGACCCTTAG -3'
Sequencing Primer
(F):5'- CCCCTAGGATTGTAGTAGTATAGGGC -3'
(R):5'- CCTTAGGGAAGCTGTGGGAAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation