Incidental Mutation 'R1812:Hipk2'
| ID |
202462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
039840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R1812 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38675098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1188
(A1188V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
| AlphaFold |
Q9QZR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160360
AA Change: A1160V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: A1160V
| 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: A1153V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: A1153V
| 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: A1188V
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: A1188V
| 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: A1161V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: A1161V
| 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: 97.3%
- 3x: 96.3%
- 10x: 93.2%
- 20x: 85.7%
|
| Validation Efficiency |
100% (1/1) |
| 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 |
|---|
| 1700017B05Rik |
G |
A |
9: 57,164,740 (GRCm39) |
Q545* |
probably null |
Het |
| Aadacl2 |
T |
C |
3: 59,932,498 (GRCm39) |
C338R |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adam17 |
T |
C |
12: 21,411,768 (GRCm39) |
D41G |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,582,540 (GRCm39) |
I119F |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,387,304 (GRCm39) |
S1586T |
probably benign |
Het |
| Arid4b |
C |
T |
13: 14,370,014 (GRCm39) |
A1170V |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,023,873 (GRCm39) |
T1659A |
probably damaging |
Het |
| Bub1b |
T |
G |
2: 118,462,902 (GRCm39) |
D754E |
probably benign |
Het |
| Cdkn1a |
T |
C |
17: 29,317,539 (GRCm39) |
V53A |
probably benign |
Het |
| Chsy1 |
T |
G |
7: 65,821,565 (GRCm39) |
V600G |
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,039,481 (GRCm39) |
V561M |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,253 (GRCm39) |
C1218R |
unknown |
Het |
| Crhr1 |
T |
C |
11: 104,059,973 (GRCm39) |
L140P |
probably damaging |
Het |
| Cyb5b |
CAGAG |
CAG |
8: 107,897,020 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,039,621 (GRCm39) |
Q298L |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,169,500 (GRCm39) |
E638G |
possibly damaging |
Het |
| Ddx41 |
A |
G |
13: 55,683,767 (GRCm39) |
I88T |
probably benign |
Het |
| Dennd11 |
A |
G |
6: 40,386,365 (GRCm39) |
I288T |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
| Dip2b |
C |
A |
15: 100,096,819 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,662,584 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,629,334 (GRCm39) |
A4246V |
possibly damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,338,431 (GRCm39) |
I158T |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,840 (GRCm39) |
Y3584C |
probably damaging |
Het |
| Fxyd5 |
T |
A |
7: 30,737,355 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
T |
A |
2: 34,615,076 (GRCm39) |
K336* |
probably null |
Het |
| Gm9637 |
G |
A |
14: 19,402,395 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr65 |
C |
T |
12: 98,242,001 (GRCm39) |
T218M |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,219 (GRCm39) |
V203A |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,925,471 (GRCm39) |
K969* |
probably null |
Het |
| Itpk1 |
T |
A |
12: 102,540,317 (GRCm39) |
E255D |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,969 (GRCm39) |
D596G |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,077,879 (GRCm39) |
I405N |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,179 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,269,642 (GRCm39) |
L622M |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,325,817 (GRCm39) |
I5227F |
probably damaging |
Het |
| Mapk10 |
A |
C |
5: 103,061,128 (GRCm39) |
S470A |
probably damaging |
Het |
| Morc2a |
C |
T |
11: 3,635,831 (GRCm39) |
T897I |
probably damaging |
Het |
| Nmbr |
A |
G |
10: 14,636,283 (GRCm39) |
|
probably null |
Het |
| Nosip |
T |
A |
7: 44,725,998 (GRCm39) |
M214K |
probably damaging |
Het |
| Or13c7d |
G |
T |
4: 43,770,230 (GRCm39) |
Y260* |
probably null |
Het |
| Or52m2 |
A |
T |
7: 102,263,577 (GRCm39) |
N206K |
possibly damaging |
Het |
| Or52r1 |
T |
C |
7: 102,537,285 (GRCm39) |
Y25C |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,447 (GRCm39) |
F260L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,899 (GRCm39) |
V286E |
probably damaging |
Het |
| Ppfia4 |
T |
A |
1: 134,252,311 (GRCm39) |
I388F |
probably benign |
Het |
| Ppm1f |
A |
G |
16: 16,735,651 (GRCm39) |
H289R |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,959,711 (GRCm39) |
D69E |
probably benign |
Het |
| Rad54b |
A |
T |
4: 11,612,770 (GRCm39) |
T801S |
probably damaging |
Het |
| Ramp1 |
A |
T |
1: 91,124,579 (GRCm39) |
N47Y |
probably damaging |
Het |
| Rnf32 |
T |
A |
5: 29,411,258 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Rpa2 |
T |
C |
4: 132,495,996 (GRCm39) |
F6L |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,575,472 (GRCm39) |
R4842L |
probably damaging |
Het |
| Scn11a |
G |
T |
9: 119,609,931 (GRCm39) |
C972* |
probably null |
Het |
| Setd2 |
C |
T |
9: 110,379,170 (GRCm39) |
T995I |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,247,789 (GRCm39) |
L471P |
probably damaging |
Het |
| Slc6a21 |
C |
G |
7: 44,932,371 (GRCm39) |
S350R |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,910,115 (GRCm39) |
N300S |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,679,435 (GRCm39) |
P634L |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,624,102 (GRCm39) |
A215V |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,097,545 (GRCm39) |
Y1676F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,622,023 (GRCm39) |
V381M |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,777,212 (GRCm39) |
F797L |
probably benign |
Het |
| Tas2r120 |
T |
G |
6: 132,634,564 (GRCm39) |
C215W |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,545,147 (GRCm39) |
D2388N |
probably damaging |
Het |
| Thsd4 |
C |
T |
9: 59,964,220 (GRCm39) |
S64N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 129,686,347 (GRCm39) |
R630C |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,650,188 (GRCm39) |
I145T |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,569,995 (GRCm39) |
D171G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,215,046 (GRCm39) |
E343G |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,108,663 (GRCm39) |
D161G |
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 |
|
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 |
|
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'- AGTTTCATTTGTGCCCCGAC -3'
(R):5'- TACATCACTCCGACCATGGC -3'
Sequencing Primer
(F):5'- TTGTGCCCCGACTGCCC -3'
(R):5'- AGCCATGGCACTGTTCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation