Incidental Mutation 'IGL01893:Hipk2'
ID |
179288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hipk2
|
Ensembl Gene |
ENSMUSG00000061436 |
Gene Name |
homeodomain interacting protein kinase 2 |
Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
IGL01893
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38795330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 313
(M313K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125500
(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: M313K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125500 Gene: ENSMUSG00000061436 AA Change: M313K
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: M306K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000125572 Gene: ENSMUSG00000061436 AA Change: M306K
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 |
probably benign
Transcript: ENSMUST00000161779
AA Change: M313K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124133 Gene: ENSMUSG00000061436 AA Change: M313K
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 |
probably benign
Transcript: ENSMUST00000162359
AA Change: M313K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125150 Gene: ENSMUSG00000061436 AA Change: M313K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
A |
3: 116,582,198 (GRCm39) |
I275F |
probably damaging |
Het |
Avil |
G |
A |
10: 126,856,415 (GRCm39) |
E815K |
possibly damaging |
Het |
Car9 |
T |
A |
4: 43,510,252 (GRCm39) |
I278N |
probably damaging |
Het |
Cast |
T |
A |
13: 74,875,408 (GRCm39) |
K480* |
probably null |
Het |
Cenpj |
A |
G |
14: 56,790,931 (GRCm39) |
F373L |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,204,366 (GRCm39) |
|
probably null |
Het |
Diaph3 |
G |
A |
14: 87,156,288 (GRCm39) |
T675I |
possibly damaging |
Het |
Dip2b |
A |
T |
15: 100,069,101 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,988,427 (GRCm39) |
D3425G |
probably damaging |
Het |
Dolk |
A |
G |
2: 30,175,926 (GRCm39) |
Y40H |
probably benign |
Het |
Drosha |
T |
C |
15: 12,866,736 (GRCm39) |
|
probably benign |
Het |
Dusp15 |
A |
G |
2: 152,790,956 (GRCm39) |
|
probably null |
Het |
Edrf1 |
T |
C |
7: 133,258,831 (GRCm39) |
F770L |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,024,586 (GRCm39) |
K363R |
possibly damaging |
Het |
Glipr1l1 |
A |
C |
10: 111,912,074 (GRCm39) |
T203P |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
H2-Q10 |
T |
C |
17: 35,784,168 (GRCm39) |
S270P |
probably damaging |
Het |
Htt |
T |
A |
5: 35,034,174 (GRCm39) |
I1920N |
probably damaging |
Het |
Lsr |
A |
T |
7: 30,661,657 (GRCm39) |
V210E |
possibly damaging |
Het |
Mbtd1 |
A |
T |
11: 93,812,238 (GRCm39) |
I181L |
probably null |
Het |
Mettl16 |
A |
T |
11: 74,696,097 (GRCm39) |
T273S |
possibly damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,961 (GRCm39) |
N74D |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,383,174 (GRCm39) |
I102T |
probably damaging |
Het |
Nme7 |
C |
T |
1: 164,172,850 (GRCm39) |
A187V |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,611,564 (GRCm39) |
W261R |
probably damaging |
Het |
Or12e13 |
G |
T |
2: 87,664,207 (GRCm39) |
G275* |
probably null |
Het |
Or2h2 |
A |
G |
17: 37,396,760 (GRCm39) |
L99P |
probably damaging |
Het |
Or4f14 |
A |
T |
2: 111,742,589 (GRCm39) |
S229T |
possibly damaging |
Het |
Orc6 |
A |
G |
8: 86,034,272 (GRCm39) |
D165G |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,133 (GRCm39) |
S89P |
probably benign |
Het |
Pcdhb12 |
T |
G |
18: 37,570,263 (GRCm39) |
S470A |
probably benign |
Het |
Phactr2 |
T |
C |
10: 13,122,932 (GRCm39) |
T397A |
probably benign |
Het |
Pms2 |
T |
C |
5: 143,860,337 (GRCm39) |
L50P |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Serpinb11 |
C |
A |
1: 107,305,387 (GRCm39) |
S254R |
probably benign |
Het |
Serpinb11 |
C |
A |
1: 107,305,388 (GRCm39) |
Q255K |
probably benign |
Het |
Skap2 |
T |
C |
6: 51,851,556 (GRCm39) |
T79A |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
T |
1: 164,967,767 (GRCm39) |
S327T |
possibly damaging |
Het |
Themis3 |
A |
G |
17: 66,866,622 (GRCm39) |
L206P |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,093 (GRCm39) |
L373Q |
possibly damaging |
Het |
Unc13c |
G |
T |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,497,730 (GRCm39) |
M503K |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r33 |
A |
G |
7: 7,566,776 (GRCm39) |
I112T |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,641,139 (GRCm39) |
W2328G |
probably damaging |
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 |
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 |
R5695:Hipk2
|
UTSW |
6 |
38,795,810 (GRCm39) |
missense |
possibly damaging |
0.64 |
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 |
|
Posted On |
2014-05-07 |