Incidental Mutation 'R8190:Hipk2'
ID |
635070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk2
|
Ensembl Gene |
ENSMUSG00000061436 |
Gene Name |
homeodomain interacting protein kinase 2 |
Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
MMRRC Submission |
067613-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R8190 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38795728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 180
(S180R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
AlphaFold |
Q9QZR5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160360
AA Change: S180R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125500 Gene: ENSMUSG00000061436 AA Change: S180R
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: S173R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125572 Gene: ENSMUSG00000061436 AA Change: S173R
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: S180R
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124133 Gene: ENSMUSG00000061436 AA Change: S180R
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: S180R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125150 Gene: ENSMUSG00000061436 AA Change: S180R
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
C |
14: 29,706,030 (GRCm39) |
V113A |
possibly damaging |
Het |
Adcy7 |
A |
G |
8: 89,037,666 (GRCm39) |
M245V |
possibly damaging |
Het |
Adgra1 |
G |
T |
7: 139,456,034 (GRCm39) |
R554L |
probably benign |
Het |
Agfg2 |
T |
A |
5: 137,653,664 (GRCm39) |
M351L |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,979,619 (GRCm39) |
G301D |
probably benign |
Het |
Ambra1 |
C |
T |
2: 91,602,697 (GRCm39) |
A227V |
possibly damaging |
Het |
Ankrd24 |
T |
A |
10: 81,474,152 (GRCm39) |
D166E |
unknown |
Het |
Anks1 |
C |
T |
17: 28,205,778 (GRCm39) |
P341S |
probably benign |
Het |
Ano4 |
C |
T |
10: 88,808,607 (GRCm39) |
D766N |
probably benign |
Het |
Apol7e |
A |
T |
15: 77,602,007 (GRCm39) |
T202S |
possibly damaging |
Het |
Arhgap44 |
C |
A |
11: 64,929,479 (GRCm39) |
C275F |
probably damaging |
Het |
Arl6ip4 |
A |
C |
5: 124,255,095 (GRCm39) |
K95T |
probably damaging |
Het |
Bbs9 |
T |
C |
9: 22,590,284 (GRCm39) |
L674P |
probably damaging |
Het |
Bmp4 |
T |
A |
14: 46,621,972 (GRCm39) |
M191L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,787,090 (GRCm39) |
L2753P |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,163,901 (GRCm39) |
H473L |
probably benign |
Het |
Cfap99 |
A |
T |
5: 34,482,502 (GRCm39) |
T538S |
possibly damaging |
Het |
Clock |
A |
T |
5: 76,375,051 (GRCm39) |
V706E |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,749,485 (GRCm39) |
M15T |
probably benign |
Het |
Deaf1 |
T |
C |
7: 140,894,324 (GRCm39) |
D351G |
probably damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Eif3j1 |
A |
T |
2: 121,877,969 (GRCm39) |
D119V |
probably damaging |
Het |
Eps8l1 |
C |
A |
7: 4,474,297 (GRCm39) |
S195Y |
probably benign |
Het |
Exosc5 |
T |
C |
7: 25,365,769 (GRCm39) |
|
probably null |
Het |
Fabp2 |
A |
T |
3: 122,690,419 (GRCm39) |
H34L |
probably benign |
Het |
Fbln5 |
T |
A |
12: 101,723,555 (GRCm39) |
Q382L |
probably damaging |
Het |
Fbxo34 |
C |
A |
14: 47,767,879 (GRCm39) |
T464K |
possibly damaging |
Het |
Fndc8 |
T |
G |
11: 82,788,686 (GRCm39) |
V172G |
probably damaging |
Het |
Frs2 |
C |
T |
10: 116,910,784 (GRCm39) |
V193I |
possibly damaging |
Het |
Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
Gprin3 |
A |
G |
6: 59,331,456 (GRCm39) |
S284P |
possibly damaging |
Het |
Gsta4 |
T |
C |
9: 78,105,654 (GRCm39) |
V28A |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,325,733 (GRCm39) |
D1402E |
probably benign |
Het |
Hrg |
A |
T |
16: 22,779,793 (GRCm39) |
H357L |
unknown |
Het |
Htr4 |
A |
G |
18: 62,570,971 (GRCm39) |
Q342R |
possibly damaging |
Het |
Impa1 |
A |
G |
3: 10,386,688 (GRCm39) |
S184P |
possibly damaging |
Het |
Iqgap3 |
A |
T |
3: 87,998,086 (GRCm39) |
Q281L |
probably damaging |
Het |
Kcnh8 |
C |
T |
17: 53,263,936 (GRCm39) |
P811L |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,599,003 (GRCm39) |
I628V |
|
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Mfn1 |
A |
T |
3: 32,622,538 (GRCm39) |
I599F |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,837,351 (GRCm39) |
R4S |
possibly damaging |
Het |
Nbeal2 |
C |
T |
9: 110,455,158 (GRCm39) |
R2580Q |
probably benign |
Het |
Nlrp4b |
A |
G |
7: 10,448,319 (GRCm39) |
N174S |
probably damaging |
Het |
Or3a4 |
T |
A |
11: 73,945,305 (GRCm39) |
R93S |
probably benign |
Het |
Or4q3 |
A |
T |
14: 50,583,179 (GRCm39) |
V240D |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,426,802 (GRCm39) |
V250D |
probably damaging |
Het |
Or5p63 |
A |
G |
7: 107,811,014 (GRCm39) |
F241L |
possibly damaging |
Het |
Pabpc2 |
G |
A |
18: 39,908,520 (GRCm39) |
R595Q |
probably benign |
Het |
Pak6 |
C |
T |
2: 118,520,578 (GRCm39) |
Q190* |
probably null |
Het |
Pds5a |
A |
T |
5: 65,781,341 (GRCm39) |
H1046Q |
probably damaging |
Het |
Plin1 |
A |
G |
7: 79,373,028 (GRCm39) |
S314P |
probably benign |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Ptpra |
G |
A |
2: 30,328,351 (GRCm39) |
S224N |
probably damaging |
Het |
Rbp1 |
T |
G |
9: 98,326,709 (GRCm39) |
W107G |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,189,617 (GRCm39) |
N61D |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 110,031,602 (GRCm39) |
D783E |
probably benign |
Het |
Sufu |
G |
T |
19: 46,389,636 (GRCm39) |
E86* |
probably null |
Het |
Synm |
A |
T |
7: 67,383,654 (GRCm39) |
M1336K |
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,942,341 (GRCm39) |
G670D |
probably damaging |
Het |
Tmc8 |
T |
G |
11: 117,682,186 (GRCm39) |
|
probably null |
Het |
Togaram1 |
T |
C |
12: 65,053,686 (GRCm39) |
V1322A |
probably damaging |
Het |
Uxs1 |
A |
T |
1: 43,810,911 (GRCm39) |
I225K |
possibly damaging |
Het |
Vil1 |
G |
T |
1: 74,474,052 (GRCm39) |
E796* |
probably null |
Het |
Vmn1r174 |
T |
C |
7: 23,453,568 (GRCm39) |
F78S |
probably damaging |
Het |
Vps13d |
T |
A |
4: 144,879,321 (GRCm39) |
I1501F |
|
Het |
Vps8 |
A |
T |
16: 21,393,780 (GRCm39) |
T1216S |
possibly damaging |
Het |
Yipf4 |
G |
T |
17: 74,800,967 (GRCm39) |
R95L |
probably damaging |
Het |
Zan |
T |
A |
5: 137,465,346 (GRCm39) |
T470S |
probably damaging |
Het |
Zfp113 |
G |
T |
5: 138,143,258 (GRCm39) |
H331N |
probably damaging |
Het |
Zfp62 |
A |
G |
11: 49,106,902 (GRCm39) |
Y331C |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,327,610 (GRCm39) |
H580R |
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 |
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 |
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'- ATGCTCACTTCAATCTGGCC -3'
(R):5'- TGGACCACATAACCTAATGCG -3'
Sequencing Primer
(F):5'- CTTGCCGGGCATAGGAG -3'
(R):5'- AAGCACTGTGAGCCTCCTTGAC -3'
|
Posted On |
2020-07-13 |