Incidental Mutation 'R6612:Hipk2'
| ID |
523661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
044735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38795808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 154
(I154V)
|
| 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: I154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: I154V
| 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: I147V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: I147V
| 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: I154V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: I154V
| 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: I154V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: I154V
| 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 |
0.0591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (59/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
C |
1: 159,902,804 (GRCm39) |
N25H |
probably damaging |
Het |
| Akr1c14 |
A |
T |
13: 4,115,331 (GRCm39) |
S87C |
probably benign |
Het |
| Arhgef37 |
T |
C |
18: 61,627,952 (GRCm39) |
T664A |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,528 (GRCm39) |
T73A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,979,960 (GRCm39) |
T274S |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,672 (GRCm39) |
T133A |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,267,323 (GRCm39) |
S720T |
possibly damaging |
Het |
| Cxcr6 |
T |
A |
9: 123,639,785 (GRCm39) |
I262N |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,008,072 (GRCm39) |
F160I |
probably benign |
Het |
| Esrra |
T |
C |
19: 6,889,220 (GRCm39) |
T390A |
probably benign |
Het |
| Gm17079 |
T |
A |
14: 51,931,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Gm17079 |
C |
A |
14: 51,931,832 (GRCm39) |
Q91H |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,493,242 (GRCm39) |
S256P |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,472,206 (GRCm39) |
V428I |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,717,996 (GRCm39) |
Y699H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,231,220 (GRCm39) |
E628G |
possibly damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,470,869 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
T |
G |
16: 35,621,961 (GRCm39) |
L102W |
probably damaging |
Het |
| Iqcb1 |
G |
A |
16: 36,692,023 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,784,862 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,874,897 (GRCm39) |
D418V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,690,432 (GRCm39) |
D631G |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,408,344 (GRCm39) |
I52V |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,407,189 (GRCm39) |
I1468T |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,743,739 (GRCm39) |
|
probably benign |
Het |
| Mab21l3 |
A |
G |
3: 101,725,961 (GRCm39) |
V345A |
possibly damaging |
Het |
| Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,048,079 (GRCm39) |
S115G |
probably benign |
Het |
| Mchr1 |
G |
A |
15: 81,122,071 (GRCm39) |
V274M |
probably damaging |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,783 (GRCm39) |
I48F |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,734,479 (GRCm39) |
F687Y |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,308,302 (GRCm39) |
L216* |
probably null |
Het |
| Nrxn3 |
A |
T |
12: 89,780,102 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
T |
A |
16: 91,023,769 (GRCm39) |
M161K |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,891,090 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,210 (GRCm39) |
N141K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,088,031 (GRCm39) |
V738A |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,503 (GRCm39) |
S212P |
probably benign |
Het |
| Plk3 |
G |
A |
4: 116,989,934 (GRCm39) |
Q194* |
probably null |
Het |
| Ppp1r36 |
T |
C |
12: 76,484,378 (GRCm39) |
I216T |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,052,081 (GRCm39) |
N2303K |
probably damaging |
Het |
| Rab25 |
G |
A |
3: 88,450,710 (GRCm39) |
T117M |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,732 (GRCm39) |
D320E |
possibly damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,821,904 (GRCm39) |
V231A |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,140 (GRCm39) |
H1225Y |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,156,758 (GRCm39) |
A470V |
probably benign |
Het |
| Spa17 |
A |
G |
9: 37,517,090 (GRCm39) |
F101S |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,096,791 (GRCm39) |
A217T |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,593,521 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
C |
7: 67,383,264 (GRCm39) |
T1466S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 53,967,187 (GRCm39) |
E29G |
possibly damaging |
Het |
| Teddm2 |
T |
A |
1: 153,726,191 (GRCm39) |
T175S |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,096 (GRCm39) |
H446L |
possibly damaging |
Het |
| Tpm3-rs7 |
G |
T |
14: 113,552,268 (GRCm39) |
R54L |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,022,926 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,594 (GRCm39) |
S4319P |
possibly damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,317,125 (GRCm39) |
H312Q |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,012,324 (GRCm39) |
|
probably null |
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 |
|
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'- ACTTGCCCAAATGTCCCTCG -3'
(R):5'- TTACGAGCAGACCATCATCTTCC -3'
Sequencing Primer
(F):5'- ATGTCCCTCGCCCCAAG -3'
(R):5'- CTGGACACATAGTTGTAACATCAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation