Incidental Mutation 'R1745:Ip6k1'
| ID |
193936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k1
|
| Ensembl Gene |
ENSMUSG00000032594 |
| Gene Name |
inositol hexaphosphate kinase 1 |
| Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
| MMRRC Submission |
039777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R1745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107879847-107925981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107918195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 77
(E77K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000164395]
[ENSMUST00000175874]
[ENSMUST00000176566]
[ENSMUST00000177158]
|
| AlphaFold |
Q6PD10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
AA Change: E176K
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: E176K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
207 |
426 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175874
|
| SMART Domains |
Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177158
AA Change: E77K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594
AA Change: E77K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
108 |
206 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177396
|
| Meta Mutation Damage Score |
0.1415 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
98% (54/55) |
| 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 may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired glucose tolerance, decreased insulin levels, bilateral epididymal aspermia, and testicular degeneration in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
| Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,451,833 (GRCm39) |
V133I |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
| Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,203,996 (GRCm39) |
L554P |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
| Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
| Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
| Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
| Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
| Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
| Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
| Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
| Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
| Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
| Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
| Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,196 (GRCm39) |
D98G |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
Het |
| Zswim9 |
A |
G |
7: 13,003,482 (GRCm39) |
S123P |
probably damaging |
Het |
|
| Other mutations in Ip6k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Ip6k1
|
APN |
9 |
107,923,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0147:Ip6k1
|
UTSW |
9 |
107,923,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Ip6k1
|
UTSW |
9 |
107,923,022 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1530:Ip6k1
|
UTSW |
9 |
107,922,761 (GRCm39) |
nonsense |
probably null |
|
|
R1716:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1717:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1718:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1719:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1741:Ip6k1
|
UTSW |
9 |
107,918,183 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1747:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1901:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1902:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1903:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1962:Ip6k1
|
UTSW |
9 |
107,918,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2126:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3809:Ip6k1
|
UTSW |
9 |
107,923,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Ip6k1
|
UTSW |
9 |
107,922,798 (GRCm39) |
nonsense |
probably null |
|
|
R6074:Ip6k1
|
UTSW |
9 |
107,901,308 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6921:Ip6k1
|
UTSW |
9 |
107,901,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Ip6k1
|
UTSW |
9 |
107,922,651 (GRCm39) |
splice site |
probably null |
|
|
R7154:Ip6k1
|
UTSW |
9 |
107,922,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Ip6k1
|
UTSW |
9 |
107,922,781 (GRCm39) |
missense |
unknown |
|
|
R7330:Ip6k1
|
UTSW |
9 |
107,922,452 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7731:Ip6k1
|
UTSW |
9 |
107,921,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Ip6k1
|
UTSW |
9 |
107,922,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Ip6k1
|
UTSW |
9 |
107,909,288 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7941:Ip6k1
|
UTSW |
9 |
107,901,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Ip6k1
|
UTSW |
9 |
107,923,115 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8383:Ip6k1
|
UTSW |
9 |
107,921,926 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8815:Ip6k1
|
UTSW |
9 |
107,918,211 (GRCm39) |
missense |
probably benign |
0.38 |
|
X0021:Ip6k1
|
UTSW |
9 |
107,909,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGTGTCCCTAAAGGTGACTTC -3'
(R):5'- TTTTCCCCAGTGGAACCCATGC -3'
Sequencing Primer
(F):5'- AAAGGTGACTTCTCTGATCTCTTAGC -3'
(R):5'- AACCCATGCCCCTGTGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation