Incidental Mutation 'R9485:Hipk2'
| ID |
716514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R9485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38680445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 965
(R965L)
|
| 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: R937L
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: R937L
| 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: R930L
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: R930L
| 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: R965L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: R965L
| 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: R938L
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: R938L
| 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: 99.6%
- 20x: 98.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,383,400 (GRCm39) |
D855G |
possibly damaging |
Het |
| 4930486L24Rik |
A |
T |
13: 61,001,059 (GRCm39) |
V159D |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,438 (GRCm39) |
A241T |
probably benign |
Het |
| Apoa4 |
T |
C |
9: 46,152,453 (GRCm39) |
M1T |
probably null |
Het |
| Atn1 |
T |
C |
6: 124,722,748 (GRCm39) |
K776E |
unknown |
Het |
| Atp1a2 |
A |
G |
1: 172,105,822 (GRCm39) |
*948R |
probably null |
Het |
| Atp7b |
T |
C |
8: 22,502,778 (GRCm39) |
Q801R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,398 (GRCm39) |
S2824T |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,361,435 (GRCm39) |
I109F |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,805 (GRCm39) |
F629S |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,399 (GRCm39) |
K1900Q |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,230,858 (GRCm39) |
T370A |
probably damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,409,103 (GRCm39) |
D447A |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,258,669 (GRCm39) |
L14Q |
unknown |
Het |
| Dennd4a |
T |
G |
9: 64,814,388 (GRCm39) |
Y1505* |
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,327,110 (GRCm39) |
M464V |
possibly damaging |
Het |
| Dip2b |
T |
C |
15: 100,052,924 (GRCm39) |
V266A |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,517 (GRCm39) |
Q220* |
probably null |
Het |
| Dnmt3a |
G |
A |
12: 3,916,121 (GRCm39) |
S102N |
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,681,977 (GRCm39) |
|
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,489 (GRCm39) |
L12H |
|
Het |
| Erp27 |
T |
C |
6: 136,886,548 (GRCm39) |
T162A |
possibly damaging |
Het |
| Fance |
T |
A |
17: 28,536,479 (GRCm39) |
L13H |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,089,405 (GRCm39) |
V947D |
probably benign |
Het |
| Gab1 |
G |
A |
8: 81,515,484 (GRCm39) |
T278M |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,269,796 (GRCm39) |
M344K |
probably damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,005 (GRCm39) |
V167M |
possibly damaging |
Het |
| Gramd1a |
T |
G |
7: 30,829,963 (GRCm39) |
D708A |
unknown |
Het |
| Gzmd |
T |
A |
14: 56,368,160 (GRCm39) |
I100F |
probably benign |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,054 (GRCm39) |
M77L |
possibly damaging |
Het |
| Ift88 |
T |
C |
14: 57,675,724 (GRCm39) |
M79T |
probably benign |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,525 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,314 (GRCm39) |
V63A |
probably benign |
Het |
| Mllt1 |
C |
T |
17: 57,207,184 (GRCm39) |
R220H |
probably damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,913 (GRCm39) |
T531A |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,181,802 (GRCm39) |
K1833R |
probably benign |
Het |
| Nfkbie |
C |
T |
17: 45,871,353 (GRCm39) |
T270I |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,831,709 (GRCm39) |
P308S |
unknown |
Het |
| Or52b3 |
A |
T |
7: 102,204,013 (GRCm39) |
N174I |
probably damaging |
Het |
| Or52e5 |
C |
T |
7: 104,718,703 (GRCm39) |
H10Y |
possibly damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,005,689 (GRCm39) |
F900I |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,520,720 (GRCm39) |
C32* |
probably null |
Het |
| Pus7 |
A |
T |
5: 23,973,859 (GRCm39) |
S212T |
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,189,614 (GRCm39) |
W1322L |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,033 (GRCm39) |
T338I |
probably damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,962,522 (GRCm39) |
K156E |
probably benign |
Het |
| Snrpn |
C |
T |
7: 59,637,212 (GRCm39) |
D35N |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,673,705 (GRCm39) |
S99G |
probably benign |
Het |
| Spmip3 |
T |
C |
1: 177,580,545 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tacc3 |
T |
C |
5: 33,821,644 (GRCm39) |
S135P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,911,667 (GRCm39) |
E583G |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,498,282 (GRCm39) |
K366* |
probably null |
Het |
| Trpm6 |
G |
T |
19: 18,755,978 (GRCm39) |
V74L |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,575,986 (GRCm39) |
T997N |
probably benign |
Het |
| Utp25 |
C |
A |
1: 192,812,541 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,592,557 (GRCm39) |
V730A |
probably damaging |
Het |
| Wdr47 |
A |
T |
3: 108,544,371 (GRCm39) |
I665F |
probably damaging |
Het |
| Wnt7a |
T |
A |
6: 91,343,297 (GRCm39) |
N195I |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,251,885 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
T |
A |
8: 72,643,669 (GRCm39) |
V366E |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,280 (GRCm39) |
C383S |
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 |
|
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 |
|
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 |
|
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'- AATCCCACTGTGGCTGCTTG -3'
(R):5'- AACTTTGCAGCACAGTCTCC -3'
Sequencing Primer
(F):5'- CACTGTGGCTGCTTGAAGAAAAATC -3'
(R):5'- GCAGCACAGTCTCCAAGCAAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation