Incidental Mutation 'R3883:Hipk2'
| ID |
308814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
040796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R3883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38676200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1011
(L1011P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
| AlphaFold |
Q9QZR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160360
AA Change: L1011P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: L1011P
| 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: L1004P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: L1004P
| 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: L1039P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: L1039P
| 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: L1012P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: L1012P
| 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 |
0.1147 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (45/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
C |
T |
8: 46,980,228 (GRCm39) |
S423L |
probably benign |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,052 (GRCm39) |
M343K |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cdk17 |
T |
C |
10: 93,047,939 (GRCm39) |
|
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,004,421 (GRCm39) |
W261R |
unknown |
Het |
| Dchs1 |
A |
G |
7: 105,411,770 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,138,518 (GRCm39) |
N772K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,942,188 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,455,382 (GRCm39) |
F4L |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,258 (GRCm39) |
D267G |
possibly damaging |
Het |
| Fbxo22 |
A |
T |
9: 55,130,546 (GRCm39) |
T169S |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,072,940 (GRCm39) |
N144D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,864 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10220 |
A |
C |
5: 26,321,908 (GRCm39) |
S255A |
possibly damaging |
Het |
| Gm15446 |
G |
T |
5: 110,088,313 (GRCm39) |
V9L |
probably damaging |
Het |
| Kif4-ps |
G |
T |
12: 101,112,473 (GRCm39) |
V201L |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lgsn |
C |
A |
1: 31,215,540 (GRCm39) |
D3E |
probably benign |
Het |
| Mavs |
T |
C |
2: 131,087,218 (GRCm39) |
S239P |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,219,322 (GRCm39) |
V667D |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,707 (GRCm39) |
Y403C |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,389,894 (GRCm39) |
S190P |
probably damaging |
Het |
| Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,420 (GRCm39) |
I133V |
probably benign |
Het |
| Or13p5 |
T |
C |
4: 118,591,882 (GRCm39) |
I52T |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,620,504 (GRCm39) |
K1632E |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,419,832 (GRCm39) |
S21P |
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,616,417 (GRCm39) |
F82L |
probably damaging |
Het |
| Reep6 |
G |
A |
10: 80,171,369 (GRCm39) |
R415Q |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,926,302 (GRCm39) |
V159A |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,738,325 (GRCm39) |
M196K |
possibly damaging |
Het |
| Sprr1a |
G |
A |
3: 92,391,827 (GRCm39) |
P58L |
probably damaging |
Het |
| Taf1a |
A |
T |
1: 183,172,288 (GRCm39) |
T10S |
possibly damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,232 (GRCm39) |
V479E |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 187,995,579 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,914 (GRCm39) |
L243* |
probably null |
Het |
| Zbtb32 |
A |
G |
7: 30,290,569 (GRCm39) |
I242T |
probably benign |
Het |
| Zbtb7a |
T |
C |
10: 80,983,859 (GRCm39) |
C434R |
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 |
|
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'- TTTTGCTGGGCTGACACAG -3'
(R):5'- CATGCGACTGACCTGTATGG -3'
Sequencing Primer
(F):5'- TGACACAGCACCATGTGG -3'
(R):5'- ACCTGTATGGCTGGTCTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation