Incidental Mutation 'R5695:Hipk2'
ID |
443875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk2
|
Ensembl Gene |
ENSMUSG00000061436 |
Gene Name |
homeodomain interacting protein kinase 2 |
Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
MMRRC Submission |
043326-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R5695 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38795810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 153
(M153K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
AlphaFold |
Q9QZR5 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160360
AA Change: M153K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125500 Gene: ENSMUSG00000061436 AA Change: M153K
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
low complexity region
|
156 |
180 |
N/A |
INTRINSIC |
S_TKc
|
199 |
527 |
3.05e-78 |
SMART |
low complexity region
|
895 |
909 |
N/A |
INTRINSIC |
low complexity region
|
963 |
992 |
N/A |
INTRINSIC |
low complexity region
|
998 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1057 |
1072 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160962
AA Change: M146K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125572 Gene: ENSMUSG00000061436 AA Change: M146K
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
S_TKc
|
192 |
520 |
3.05e-78 |
SMART |
low complexity region
|
888 |
902 |
N/A |
INTRINSIC |
low complexity region
|
956 |
985 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1065 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161779
AA Change: M153K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124133 Gene: ENSMUSG00000061436 AA Change: M153K
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
low complexity region
|
156 |
180 |
N/A |
INTRINSIC |
S_TKc
|
199 |
527 |
3.05e-78 |
SMART |
low complexity region
|
923 |
937 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1085 |
1100 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162359
AA Change: M153K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125150 Gene: ENSMUSG00000061436 AA Change: M153K
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
low complexity region
|
156 |
180 |
N/A |
INTRINSIC |
S_TKc
|
199 |
527 |
3.05e-78 |
SMART |
low complexity region
|
896 |
910 |
N/A |
INTRINSIC |
low complexity region
|
964 |
993 |
N/A |
INTRINSIC |
low complexity region
|
999 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1073 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1243 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
98% (58/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous null mice display decreased apoptosis and increased neuron numbers in the trigeminal ganglion. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(3)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
A |
12: 84,660,745 (GRCm39) |
H116L |
probably damaging |
Het |
Anapc4 |
C |
T |
5: 53,019,581 (GRCm39) |
S581L |
probably benign |
Het |
Ano8 |
A |
C |
8: 71,935,887 (GRCm39) |
D276E |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Bpifb4 |
G |
A |
2: 153,784,843 (GRCm39) |
G184S |
probably damaging |
Het |
Cbx8 |
T |
C |
11: 118,930,137 (GRCm39) |
D152G |
probably benign |
Het |
Cdca2 |
A |
G |
14: 67,943,078 (GRCm39) |
|
probably null |
Het |
Cgn |
G |
A |
3: 94,680,945 (GRCm39) |
A531V |
probably benign |
Het |
Cmya5 |
C |
A |
13: 93,182,374 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,935,769 (GRCm39) |
S365P |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,056,330 (GRCm39) |
Q372R |
probably damaging |
Het |
Ehf |
T |
A |
2: 103,097,124 (GRCm39) |
E276V |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,890,744 (GRCm39) |
|
probably null |
Het |
Enpep |
C |
T |
3: 129,102,748 (GRCm39) |
D403N |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,530,806 (GRCm39) |
E550G |
probably damaging |
Het |
Entpd8 |
A |
G |
2: 24,974,346 (GRCm39) |
D377G |
probably benign |
Het |
Epc2 |
T |
A |
2: 49,437,619 (GRCm39) |
|
probably null |
Het |
Erich3 |
G |
T |
3: 154,439,210 (GRCm39) |
G481V |
probably damaging |
Het |
Fank1 |
A |
G |
7: 133,471,075 (GRCm39) |
Y156C |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,929,203 (GRCm39) |
D3869G |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,071,675 (GRCm39) |
D106G |
probably benign |
Het |
Gm20830 |
A |
T |
Y: 6,916,501 (GRCm39) |
V206E |
probably benign |
Het |
Gmpr2 |
T |
C |
14: 55,914,691 (GRCm39) |
V228A |
possibly damaging |
Het |
Gon4l |
TGAGCA |
TGAGCAGAGCA |
3: 88,803,523 (GRCm39) |
|
probably null |
Het |
Gtpbp1 |
G |
A |
15: 79,596,375 (GRCm39) |
|
probably null |
Het |
Hhat |
A |
T |
1: 192,399,327 (GRCm39) |
M271K |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,261,915 (GRCm39) |
H2672L |
probably benign |
Het |
Igfbpl1 |
A |
T |
4: 45,826,374 (GRCm39) |
D140E |
probably damaging |
Het |
Kctd1 |
T |
G |
18: 15,196,573 (GRCm39) |
|
probably benign |
Het |
Lax1 |
A |
T |
1: 133,608,316 (GRCm39) |
Y142N |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,551,798 (GRCm39) |
R733C |
probably damaging |
Het |
Morn4 |
A |
G |
19: 42,064,556 (GRCm39) |
L144P |
possibly damaging |
Het |
Nup214 |
C |
A |
2: 31,924,385 (GRCm39) |
T1638K |
probably damaging |
Het |
Nyap1 |
C |
T |
5: 137,733,246 (GRCm39) |
A596T |
probably damaging |
Het |
Oas1d |
T |
C |
5: 121,053,074 (GRCm39) |
M43T |
probably benign |
Het |
Or4l15 |
T |
C |
14: 50,198,080 (GRCm39) |
T150A |
probably benign |
Het |
Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
Or8b42 |
A |
G |
9: 38,342,472 (GRCm39) |
H298R |
probably benign |
Het |
Pacs1 |
A |
G |
19: 5,186,819 (GRCm39) |
F851S |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,683,800 (GRCm39) |
Q89R |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,838,378 (GRCm39) |
|
probably benign |
Het |
Plekhb1 |
A |
T |
7: 100,304,602 (GRCm39) |
I34N |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,175,397 (GRCm39) |
E1800G |
probably damaging |
Het |
Rbm33 |
A |
T |
5: 28,544,010 (GRCm39) |
I89F |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,560,531 (GRCm39) |
E436V |
probably damaging |
Het |
Slc2a4 |
G |
T |
11: 69,837,217 (GRCm39) |
P73Q |
probably damaging |
Het |
Sorbs2 |
A |
T |
8: 46,245,912 (GRCm39) |
T311S |
probably benign |
Het |
Sulf2 |
G |
A |
2: 165,974,678 (GRCm39) |
A2V |
probably benign |
Het |
Supt16 |
A |
T |
14: 52,411,601 (GRCm39) |
|
probably null |
Het |
Vmn1r26 |
A |
T |
6: 57,985,738 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn2r39 |
T |
A |
7: 9,028,150 (GRCm39) |
H407L |
possibly damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,225,064 (GRCm39) |
Y482F |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,973,655 (GRCm39) |
E376G |
probably benign |
Het |
Wrn |
C |
A |
8: 33,814,346 (GRCm39) |
G366V |
probably benign |
Het |
|
Other mutations in Hipk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00582:Hipk2
|
APN |
6 |
38,796,257 (GRCm39) |
splice site |
probably benign |
|
IGL00814:Hipk2
|
APN |
6 |
38,795,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00907:Hipk2
|
APN |
6 |
38,795,208 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01350:Hipk2
|
APN |
6 |
38,795,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01714:Hipk2
|
APN |
6 |
38,796,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01893:Hipk2
|
APN |
6 |
38,795,330 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02028:Hipk2
|
APN |
6 |
38,795,691 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02133:Hipk2
|
APN |
6 |
38,796,069 (GRCm39) |
missense |
probably benign |
|
IGL02135:Hipk2
|
APN |
6 |
38,795,934 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02543:Hipk2
|
APN |
6 |
38,680,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02630:Hipk2
|
APN |
6 |
38,795,456 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02896:Hipk2
|
APN |
6 |
38,675,382 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Hipk2
|
APN |
6 |
38,706,879 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03345:Hipk2
|
APN |
6 |
38,724,937 (GRCm39) |
splice site |
probably benign |
|
R0070:Hipk2
|
UTSW |
6 |
38,795,919 (GRCm39) |
nonsense |
probably null |
|
R0070:Hipk2
|
UTSW |
6 |
38,795,919 (GRCm39) |
nonsense |
probably null |
|
R0092:Hipk2
|
UTSW |
6 |
38,720,164 (GRCm39) |
missense |
probably damaging |
0.97 |
R0184:Hipk2
|
UTSW |
6 |
38,695,866 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0494:Hipk2
|
UTSW |
6 |
38,706,924 (GRCm39) |
missense |
probably benign |
0.03 |
R0617:Hipk2
|
UTSW |
6 |
38,724,420 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0720:Hipk2
|
UTSW |
6 |
38,675,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Hipk2
|
UTSW |
6 |
38,675,098 (GRCm39) |
missense |
probably benign |
0.14 |
R1864:Hipk2
|
UTSW |
6 |
38,695,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1919:Hipk2
|
UTSW |
6 |
38,795,919 (GRCm39) |
nonsense |
probably null |
|
R1995:Hipk2
|
UTSW |
6 |
38,692,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Hipk2
|
UTSW |
6 |
38,795,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Hipk2
|
UTSW |
6 |
38,706,850 (GRCm39) |
splice site |
probably benign |
|
R2384:Hipk2
|
UTSW |
6 |
38,795,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R3775:Hipk2
|
UTSW |
6 |
38,720,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R3792:Hipk2
|
UTSW |
6 |
38,675,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R3841:Hipk2
|
UTSW |
6 |
38,795,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R3883:Hipk2
|
UTSW |
6 |
38,676,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Hipk2
|
UTSW |
6 |
38,713,857 (GRCm39) |
intron |
probably benign |
|
R4724:Hipk2
|
UTSW |
6 |
38,675,327 (GRCm39) |
missense |
probably benign |
0.10 |
R4838:Hipk2
|
UTSW |
6 |
38,795,339 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4843:Hipk2
|
UTSW |
6 |
38,796,192 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5040:Hipk2
|
UTSW |
6 |
38,707,816 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5044:Hipk2
|
UTSW |
6 |
38,795,814 (GRCm39) |
missense |
probably benign |
0.06 |
R5320:Hipk2
|
UTSW |
6 |
38,795,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R5409:Hipk2
|
UTSW |
6 |
38,706,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Hipk2
|
UTSW |
6 |
38,714,408 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5876:Hipk2
|
UTSW |
6 |
38,707,802 (GRCm39) |
critical splice donor site |
probably null |
|
R6309:Hipk2
|
UTSW |
6 |
38,675,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R6612:Hipk2
|
UTSW |
6 |
38,795,808 (GRCm39) |
missense |
probably benign |
0.04 |
R6815:Hipk2
|
UTSW |
6 |
38,795,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7104:Hipk2
|
UTSW |
6 |
38,795,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R7124:Hipk2
|
UTSW |
6 |
38,795,413 (GRCm39) |
nonsense |
probably null |
|
R7238:Hipk2
|
UTSW |
6 |
38,692,992 (GRCm39) |
missense |
probably benign |
0.45 |
R7712:Hipk2
|
UTSW |
6 |
38,680,569 (GRCm39) |
missense |
probably benign |
0.02 |
R7994:Hipk2
|
UTSW |
6 |
38,795,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8190:Hipk2
|
UTSW |
6 |
38,795,728 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8388:Hipk2
|
UTSW |
6 |
38,722,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R8796:Hipk2
|
UTSW |
6 |
38,675,158 (GRCm39) |
missense |
probably damaging |
0.99 |
R9041:Hipk2
|
UTSW |
6 |
38,724,909 (GRCm39) |
nonsense |
probably null |
|
R9388:Hipk2
|
UTSW |
6 |
38,707,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Hipk2
|
UTSW |
6 |
38,680,377 (GRCm39) |
missense |
probably benign |
0.37 |
R9485:Hipk2
|
UTSW |
6 |
38,680,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9562:Hipk2
|
UTSW |
6 |
38,724,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R9565:Hipk2
|
UTSW |
6 |
38,724,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCACTTGCCCAAATGTC -3'
(R):5'- CAGACCATCATCTTCCCAGG -3'
Sequencing Primer
(F):5'- ATGTCCCTCGCCCCAAG -3'
(R):5'- CTGGACACATAGTTGTAACATCAGC -3'
|
Posted On |
2016-11-09 |