Incidental Mutation 'R7765:Ip6k1'
| ID |
598186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k1
|
| Ensembl Gene |
ENSMUSG00000032594 |
| Gene Name |
inositol hexaphosphate kinase 1 |
| Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
| MMRRC Submission |
045821-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.367)
|
| Stock # |
R7765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107879847-107925981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107909288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000164395]
[ENSMUST00000175874]
[ENSMUST00000176356]
[ENSMUST00000176566]
[ENSMUST00000176854]
[ENSMUST00000177158]
|
| AlphaFold |
Q6PD10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035214
AA Change: D105G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: D105G
| 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 |
possibly damaging
Transcript: ENSMUST00000175874
AA Change: D105G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176854
AA Change: D105G
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177158
AA Change: D6G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594
AA Change: D6G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
108 |
206 |
1.5e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0623 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
C |
14: 66,297,345 (GRCm39) |
E187G |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,846,555 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
G |
A |
7: 44,559,160 (GRCm39) |
T189M |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,859,644 (GRCm39) |
Y845H |
probably benign |
Het |
| Asb14 |
G |
T |
14: 26,619,718 (GRCm39) |
V55F |
probably benign |
Het |
| Brap |
A |
T |
5: 121,800,192 (GRCm39) |
D71V |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,427,042 (GRCm39) |
F610V |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,231,480 (GRCm39) |
D911A |
|
Het |
| Chn2 |
T |
C |
6: 54,275,137 (GRCm39) |
|
probably null |
Het |
| Cib3 |
A |
G |
8: 72,958,269 (GRCm39) |
F156S |
probably damaging |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,354 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,738,715 (GRCm39) |
V164D |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,869,879 (GRCm39) |
F405I |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,594 (GRCm39) |
T270A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,775 (GRCm39) |
S4455T |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,685,110 (GRCm39) |
K47R |
|
Het |
| Efhd2 |
T |
C |
4: 141,601,886 (GRCm39) |
E98G |
probably damaging |
Het |
| Fcmr |
T |
A |
1: 130,802,025 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,351,906 (GRCm39) |
E1106D |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,723 (GRCm39) |
G334D |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,145,647 (GRCm39) |
F488L |
probably benign |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,436 (GRCm39) |
H140N |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,352,402 (GRCm39) |
F342L |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif18a |
G |
A |
2: 109,137,285 (GRCm39) |
D506N |
probably benign |
Het |
| Klf17 |
T |
A |
4: 117,617,812 (GRCm39) |
M182L |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,750,215 (GRCm39) |
F2493L |
unknown |
Het |
| Lefty1 |
A |
G |
1: 180,764,112 (GRCm39) |
E84G |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,884,117 (GRCm39) |
L2975R |
possibly damaging |
Het |
| Magea5 |
G |
A |
X: 153,837,174 (GRCm39) |
P73S |
possibly damaging |
Het |
| Mctp2 |
T |
C |
7: 71,740,079 (GRCm39) |
|
probably null |
Het |
| Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,194,481 (GRCm39) |
I1564N |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,328,105 (GRCm39) |
M1068K |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,450,433 (GRCm39) |
C60R |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,780,254 (GRCm39) |
I29V |
probably benign |
Het |
| Ntsr1 |
T |
A |
2: 180,180,610 (GRCm39) |
H305Q |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,571 (GRCm39) |
E111G |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,612 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,538 (GRCm39) |
I201F |
probably damaging |
Het |
| Pate2 |
A |
C |
9: 35,581,197 (GRCm39) |
E22D |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,158 (GRCm39) |
T209A |
probably damaging |
Het |
| Pdss2 |
C |
T |
10: 43,340,628 (GRCm39) |
S352F |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,900 (GRCm39) |
D27V |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,461,920 (GRCm39) |
S84A |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rad51b |
T |
C |
12: 79,850,044 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,970 (GRCm39) |
V1632A |
possibly damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,007,512 (GRCm39) |
D158A |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 31,008,868 (GRCm39) |
L266P |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,852,873 (GRCm39) |
|
probably null |
Het |
| Stox1 |
C |
T |
10: 62,501,778 (GRCm39) |
V261M |
probably benign |
Het |
| Taf7l2 |
T |
A |
10: 115,949,158 (GRCm39) |
K123* |
probably null |
Het |
| Tll1 |
A |
G |
8: 64,504,483 (GRCm39) |
Y638H |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,289,816 (GRCm39) |
M73K |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,003 (GRCm39) |
V232M |
probably benign |
Het |
| Unk |
T |
A |
11: 115,943,908 (GRCm39) |
V343D |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,039,426 (GRCm39) |
V1302A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,885,234 (GRCm39) |
L1271H |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,413,361 (GRCm39) |
P192L |
probably benign |
Het |
| Zfp995 |
A |
G |
17: 22,100,984 (GRCm39) |
Y38H |
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 |
|
R1745:Ip6k1
|
UTSW |
9 |
107,918,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- TGGAAAATGGGTGTCTGCTCAC -3'
(R):5'- TTTAGGATTCAGCACGTGCC -3'
Sequencing Primer
(F):5'- ATCCTTCTTAATGGAGCCACAG -3'
(R):5'- ATTCAGCACGTGCCACTGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation