Incidental Mutation 'R7330:Ip6k1'
| ID |
569188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k1
|
| Ensembl Gene |
ENSMUSG00000032594 |
| Gene Name |
inositol hexaphosphate kinase 1 |
| Synonyms |
InsP6k1, Ihpk1, InsP6, 1200016D08Rik |
| MMRRC Submission |
045423-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.367)
|
| Stock # |
R7330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107879847-107925981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107922452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 168
(D168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047947]
[ENSMUST00000112295]
[ENSMUST00000164395]
[ENSMUST00000175874]
[ENSMUST00000176566]
[ENSMUST00000177158]
|
| AlphaFold |
Q6PD10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
| 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: ENSMUST00000047947
|
| SMART Domains |
Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
234 |
8e-48 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
202 |
6.6e-12 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
1.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112295
|
| SMART Domains |
Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
235 |
2.1e-51 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
199 |
1.1e-11 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
9.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164395
|
| 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 |
probably benign
Transcript: ENSMUST00000176566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176613
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177158
AA Change: D168G
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594
AA Change: D168G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
108 |
206 |
1.5e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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 |
|---|
| Acaa1b |
T |
C |
9: 118,977,450 (GRCm39) |
T411A |
possibly damaging |
Het |
| Ace |
A |
G |
11: 105,876,887 (GRCm39) |
H1123R |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,889,651 (GRCm39) |
M1K |
probably null |
Het |
| Actr2 |
A |
T |
11: 20,022,544 (GRCm39) |
M309K |
probably damaging |
Het |
| Ahsa2 |
G |
T |
11: 23,440,558 (GRCm39) |
T279K |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,702,947 (GRCm39) |
Y437C |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,700,577 (GRCm39) |
K5* |
probably null |
Het |
| Bbs2 |
T |
A |
8: 94,814,033 (GRCm39) |
E195V |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,949,446 (GRCm39) |
Y1505F |
probably damaging |
Het |
| Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,227,036 (GRCm39) |
V166I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,754,592 (GRCm39) |
C356* |
probably null |
Het |
| Cilp |
A |
T |
9: 65,187,527 (GRCm39) |
R1207S |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,137,923 (GRCm39) |
I291T |
possibly damaging |
Het |
| Clrn3 |
G |
T |
7: 135,130,198 (GRCm39) |
S12Y |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,343,422 (GRCm39) |
A675D |
probably benign |
Het |
| Cpvl |
A |
G |
6: 53,951,744 (GRCm39) |
I13T |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,634 (GRCm39) |
I452T |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,291 (GRCm39) |
V239A |
probably damaging |
Het |
| Edar |
T |
G |
10: 58,446,376 (GRCm39) |
H183P |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,764 (GRCm39) |
S67T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,900 (GRCm39) |
L168P |
probably benign |
Het |
| Grm4 |
C |
T |
17: 27,653,798 (GRCm39) |
W717* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,055 (GRCm39) |
I127V |
probably benign |
Het |
| Igkv4-72 |
C |
T |
6: 69,204,087 (GRCm39) |
A35T |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,415,292 (GRCm39) |
R1742H |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,635,641 (GRCm39) |
T58S |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,296,311 (GRCm39) |
K566E |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,358,022 (GRCm39) |
T81K |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,723,685 (GRCm39) |
N2540K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,901,553 (GRCm39) |
D769E |
unknown |
Het |
| Neb |
C |
T |
2: 52,079,715 (GRCm39) |
V5780M |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,625,057 (GRCm39) |
C241* |
probably null |
Het |
| Or5d35 |
C |
A |
2: 87,855,265 (GRCm39) |
H66Q |
possibly damaging |
Het |
| Or6c8b |
C |
T |
10: 128,882,333 (GRCm39) |
V200M |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,567 (GRCm39) |
I43F |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,439 (GRCm39) |
V757A |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,854 (GRCm39) |
T448A |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,668,244 (GRCm39) |
M694K |
possibly damaging |
Het |
| Ropn1l |
T |
C |
15: 31,451,349 (GRCm39) |
Y45C |
|
Het |
| Selenbp1 |
T |
A |
3: 94,847,021 (GRCm39) |
D182E |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Spef1 |
G |
A |
2: 131,014,653 (GRCm39) |
R90W |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,452,396 (GRCm39) |
S2787G |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,271 (GRCm39) |
S730P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,078,434 (GRCm39) |
N997S |
probably benign |
Het |
| Tipin |
A |
G |
9: 64,195,508 (GRCm39) |
D38G |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,032,956 (GRCm39) |
K484M |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
A |
AAGTAC |
6: 113,376,125 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,747,355 (GRCm39) |
V4565I |
probably benign |
Het |
| Ubr7 |
A |
G |
12: 102,741,971 (GRCm39) |
I402V |
probably damaging |
Het |
| Ucn3 |
A |
T |
13: 3,991,216 (GRCm39) |
N145K |
possibly damaging |
Het |
| Utp18 |
A |
T |
11: 93,772,899 (GRCm39) |
|
probably null |
Het |
| Utp20 |
GAA |
GA |
10: 88,623,424 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,711 (GRCm39) |
I42T |
possibly damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,429 (GRCm39) |
M238T |
probably damaging |
Het |
| Washc5 |
G |
T |
15: 59,205,516 (GRCm39) |
A1125D |
probably benign |
Het |
| Wsb2 |
A |
G |
5: 117,508,827 (GRCm39) |
E87G |
probably damaging |
Het |
| Zfat |
G |
A |
15: 68,084,600 (GRCm39) |
P97L |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 74,523,153 (GRCm39) |
T22P |
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 |
|
|
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'- TCTCCTCCTAAAAGGTGAGTCAC -3'
(R):5'- TCTGATGGCCACAAAGTAGCC -3'
Sequencing Primer
(F):5'- GTTCACTGAGCCCTGCTGAC -3'
(R):5'- CAATCTGGAAGGCACTCT -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation