Incidental Mutation 'R4471:Hipk2'
| ID |
329424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 38713857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
| AlphaFold |
Q9QZR5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160360
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,367,040 (GRCm39) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,633,064 (GRCm39) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,907,533 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,174,025 (GRCm39) |
N210I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,395,585 (GRCm39) |
|
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,833 (GRCm39) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,754,089 (GRCm39) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Dnajb4 |
A |
T |
3: 151,890,799 (GRCm39) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,472,894 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,310,868 (GRCm39) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm39) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,317,499 (GRCm39) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,390,650 (GRCm39) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,431,196 (GRCm39) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,965,337 (GRCm39) |
E281G |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,313,764 (GRCm39) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,631 (GRCm39) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,236,990 (GRCm39) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 66,124,797 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm39) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,490,053 (GRCm39) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 126,601,130 (GRCm39) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,311 (GRCm39) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,361,216 (GRCm39) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,423,816 (GRCm39) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,499,780 (GRCm39) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,571,259 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,846,774 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,894,725 (GRCm39) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,603,862 (GRCm39) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,277 (GRCm39) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,673 (GRCm39) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcstv2a |
G |
T |
13: 120,725,579 (GRCm39) |
R81L |
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,461,134 (GRCm39) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm39) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,319,904 (GRCm39) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 128,923,977 (GRCm39) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,338,843 (GRCm39) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,857,830 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,982,728 (GRCm39) |
I399T |
possibly damaging |
Het |
| Utp25 |
C |
T |
1: 192,812,445 (GRCm39) |
R5Q |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 112,193,419 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,151,172 (GRCm39) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,019,041 (GRCm39) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,913 (GRCm39) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,804,157 (GRCm39) |
L2633Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCTTTGGGGACTTATAAGAC -3'
(R):5'- TCCTCTGAGCAAATGTGGGG -3'
Sequencing Primer
(F):5'- CTTTGGGGACTTATAAGACTGGAAG -3'
(R):5'- GCCTGCTAAGAAATTGTAGAACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation