Incidental Mutation 'R2079:Hipk2'
| ID |
229337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
040084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2079 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38795720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 183
(D183G)
|
| 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 damaging
Transcript: ENSMUST00000160360
AA Change: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: D183G
| 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 damaging
Transcript: ENSMUST00000160962
AA Change: D176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: D176G
| 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 damaging
Transcript: ENSMUST00000161779
AA Change: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: D183G
| 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: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: D183G
| 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: 97.4%
- 20x: 95.4%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,598,746 (GRCm39) |
R862S |
probably benign |
Het |
| Aldoa |
T |
C |
7: 126,396,076 (GRCm39) |
D164G |
probably null |
Het |
| Ankle2 |
T |
C |
5: 110,392,371 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,907,902 (GRCm39) |
Y482C |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,956,358 (GRCm39) |
R1074C |
probably benign |
Het |
| Ciart |
G |
T |
3: 95,786,350 (GRCm39) |
H242N |
probably damaging |
Het |
| Cidec |
T |
A |
6: 113,402,615 (GRCm39) |
M220L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,713,534 (GRCm39) |
I699T |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,207 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp2j6 |
C |
A |
4: 96,419,962 (GRCm39) |
L256F |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,345 (GRCm39) |
Y148* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,104,018 (GRCm39) |
I373N |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,360,721 (GRCm39) |
M268K |
probably damaging |
Het |
| Fam118b |
C |
A |
9: 35,134,960 (GRCm39) |
V216F |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,148 (GRCm39) |
V487A |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,718,513 (GRCm39) |
R147* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,291,893 (GRCm39) |
S544P |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,341,732 (GRCm39) |
Q1342K |
probably benign |
Het |
| Garin3 |
T |
G |
11: 46,295,934 (GRCm39) |
V102G |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,881 (GRCm39) |
M84T |
possibly damaging |
Het |
| Gm20481 |
T |
C |
17: 35,189,196 (GRCm39) |
K569R |
probably benign |
Het |
| Gm4871 |
A |
C |
5: 144,966,741 (GRCm39) |
D247E |
possibly damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,424 (GRCm39) |
N248K |
probably benign |
Het |
| Gulo |
A |
G |
14: 66,227,832 (GRCm39) |
Y367H |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,244,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,868,404 (GRCm39) |
N51K |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,342,806 (GRCm39) |
T439S |
probably benign |
Het |
| Hoxd3 |
A |
C |
2: 74,574,610 (GRCm39) |
E85D |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,690,660 (GRCm39) |
M694K |
probably damaging |
Het |
| Jag2 |
A |
G |
12: 112,883,997 (GRCm39) |
I194T |
probably damaging |
Het |
| Jrkl |
A |
T |
9: 13,244,864 (GRCm39) |
F266I |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,260 (GRCm39) |
I436V |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,936,570 (GRCm39) |
D284V |
probably damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,506,955 (GRCm39) |
T200A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,557,278 (GRCm39) |
D1143G |
possibly damaging |
Het |
| Kremen1 |
G |
GGGGT |
11: 5,151,794 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 27,245,049 (GRCm39) |
I244S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,867,301 (GRCm39) |
P99S |
possibly damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,938,875 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,971,716 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mmp2 |
T |
A |
8: 93,576,817 (GRCm39) |
N77K |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,482 (GRCm39) |
E1009G |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,828,581 (GRCm39) |
Y658H |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,524,835 (GRCm39) |
L215P |
possibly damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,408,417 (GRCm39) |
F526L |
probably benign |
Het |
| Or10p21 |
T |
C |
10: 128,847,898 (GRCm39) |
V248A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,702 (GRCm39) |
F333L |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,507 (GRCm39) |
L329P |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,224 (GRCm39) |
Q250R |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,362 (GRCm39) |
L776Q |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,942,257 (GRCm39) |
M700K |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,197,194 (GRCm39) |
V127M |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,776 (GRCm39) |
S80P |
probably damaging |
Het |
| Sema3a |
C |
T |
5: 13,501,098 (GRCm39) |
T47I |
possibly damaging |
Het |
| Sik2 |
C |
T |
9: 50,818,706 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
C |
9: 56,996,807 (GRCm39) |
V112A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,736,257 (GRCm39) |
A472T |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,311,502 (GRCm39) |
V561A |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,285,073 (GRCm39) |
T422I |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,437 (GRCm39) |
H141L |
probably damaging |
Het |
| Tmem252 |
A |
T |
19: 24,655,017 (GRCm39) |
E131D |
probably benign |
Het |
| Trim55 |
T |
G |
3: 19,698,830 (GRCm39) |
L20V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,725,291 (GRCm39) |
V83D |
probably benign |
Het |
| Utf1 |
C |
T |
7: 139,524,808 (GRCm39) |
R309* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,133 (GRCm39) |
T261A |
probably damaging |
Het |
| Vmn1r24 |
T |
C |
6: 57,932,655 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,121 (GRCm39) |
D77V |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,606,383 (GRCm39) |
H321P |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,930,371 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,060,856 (GRCm39) |
Q332L |
probably damaging |
Het |
| Zwilch |
G |
T |
9: 64,060,857 (GRCm39) |
Q332K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCACTTCAATCTGGCC -3'
(R):5'- CATAACCTAATGCGTCGAAGC -3'
Sequencing Primer
(F):5'- CTTGCCGGGCATAGGAG -3'
(R):5'- AAGCACTGTGAGCCTCCTTGAC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation