Incidental Mutation 'IGL02900:Hipk2'
ID |
363561 |
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 # |
IGL02900
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38706879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 670
(I670V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
AlphaFold |
Q9QZR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000160360
AA Change: I670V
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125500 Gene: ENSMUSG00000061436 AA Change: I670V
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 |
possibly damaging
Transcript: ENSMUST00000160962
AA Change: I663V
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125572 Gene: ENSMUSG00000061436 AA Change: I663V
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: I697V
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124133 Gene: ENSMUSG00000061436 AA Change: I697V
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 damaging
Transcript: ENSMUST00000162359
AA Change: I670V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125150 Gene: ENSMUSG00000061436 AA Change: I670V
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
G |
T |
11: 99,728,774 (GRCm39) |
T23N |
possibly damaging |
Het |
Angpt4 |
T |
A |
2: 151,753,391 (GRCm39) |
V47E |
probably damaging |
Het |
Arhgef11 |
G |
A |
3: 87,640,467 (GRCm39) |
R1208Q |
probably benign |
Het |
Calb1 |
T |
C |
4: 15,895,695 (GRCm39) |
|
probably benign |
Het |
Capn11 |
G |
T |
17: 45,941,540 (GRCm39) |
|
probably null |
Het |
Carmil2 |
T |
A |
8: 106,422,151 (GRCm39) |
I1140N |
probably damaging |
Het |
Cnn3 |
A |
T |
3: 121,245,143 (GRCm39) |
T23S |
probably benign |
Het |
Colgalt2 |
C |
T |
1: 152,384,481 (GRCm39) |
T607M |
probably damaging |
Het |
Cyp46a1 |
T |
G |
12: 108,309,350 (GRCm39) |
V93G |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,227,344 (GRCm39) |
Y261C |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,878,886 (GRCm39) |
Y2715C |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,461,713 (GRCm39) |
|
probably benign |
Het |
Eml4 |
C |
T |
17: 83,785,421 (GRCm39) |
P862L |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,536,242 (GRCm39) |
T128A |
probably damaging |
Het |
Gp9 |
G |
T |
6: 87,756,415 (GRCm39) |
W143C |
probably damaging |
Het |
Hoxa10 |
T |
C |
6: 52,209,541 (GRCm39) |
K77R |
possibly damaging |
Het |
Kcna1 |
T |
G |
6: 126,620,057 (GRCm39) |
S88R |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,265,266 (GRCm39) |
S1758T |
possibly damaging |
Het |
Klk1b11 |
A |
G |
7: 43,427,837 (GRCm39) |
T182A |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,412,516 (GRCm39) |
|
probably benign |
Het |
Magi1 |
A |
G |
6: 93,663,854 (GRCm39) |
S991P |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,872,184 (GRCm39) |
T2203S |
probably benign |
Het |
Mxra8 |
A |
G |
4: 155,925,576 (GRCm39) |
E95G |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,925,668 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or14j9 |
A |
G |
17: 37,874,740 (GRCm39) |
I154T |
possibly damaging |
Het |
Or2f2 |
T |
A |
6: 42,767,808 (GRCm39) |
Y278* |
probably null |
Het |
Or8g2b |
T |
A |
9: 39,751,108 (GRCm39) |
I126N |
probably damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,901 (GRCm39) |
H73L |
probably benign |
Het |
Pbx4 |
A |
G |
8: 70,319,216 (GRCm39) |
E249G |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,750,830 (GRCm39) |
E1727G |
probably benign |
Het |
Plec |
T |
G |
15: 76,070,414 (GRCm39) |
D932A |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,382,085 (GRCm39) |
F204I |
possibly damaging |
Het |
Raph1 |
T |
C |
1: 60,542,022 (GRCm39) |
D364G |
probably damaging |
Het |
Rps29 |
T |
A |
12: 69,205,825 (GRCm39) |
H3L |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,589,826 (GRCm39) |
C509* |
probably null |
Het |
Srgap2 |
A |
T |
1: 131,339,534 (GRCm39) |
|
probably benign |
Het |
Stam2 |
A |
T |
2: 52,598,209 (GRCm39) |
D243E |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,497,861 (GRCm39) |
L146P |
probably benign |
Het |
Teddm3 |
G |
T |
16: 20,971,900 (GRCm39) |
T223K |
probably benign |
Het |
Tfap2d |
A |
T |
1: 19,189,474 (GRCm39) |
N285Y |
probably damaging |
Het |
Tmprss3 |
T |
A |
17: 31,403,553 (GRCm39) |
D416V |
probably damaging |
Het |
Vmn1r71 |
T |
A |
7: 10,482,601 (GRCm39) |
Y29F |
probably benign |
Het |
Vmn2r84 |
T |
C |
10: 130,223,861 (GRCm39) |
|
probably benign |
Het |
Washc2 |
G |
T |
6: 116,204,435 (GRCm39) |
D362Y |
probably damaging |
Het |
Wbp2nl |
T |
C |
15: 82,198,035 (GRCm39) |
S191P |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,079,865 (GRCm39) |
T307A |
probably damaging |
Het |
Zfp970 |
T |
C |
2: 177,166,610 (GRCm39) |
|
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 |
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 |
2015-12-18 |