Incidental Mutation 'R1995:Hipk2'
ID |
225674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk2
|
Ensembl Gene |
ENSMUSG00000061436 |
Gene Name |
homeodomain interacting protein kinase 2 |
Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
MMRRC Submission |
040005-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R1995 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 38692909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 868
(D868Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
AlphaFold |
Q9QZR5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160360
AA Change: D867Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125500 Gene: ENSMUSG00000061436 AA Change: D867Y
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: D860Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125572 Gene: ENSMUSG00000061436 AA Change: D860Y
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: D895Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124133 Gene: ENSMUSG00000061436 AA Change: D895Y
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: D868Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125150 Gene: ENSMUSG00000061436 AA Change: D868Y
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: 97.1%
- 20x: 94.7%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
Nuggc |
A |
G |
14: 65,848,623 (GRCm39) |
R175G |
probably benign |
Het |
Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
Pkn3 |
G |
C |
2: 29,979,989 (GRCm39) |
G744A |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
Pogz |
C |
T |
3: 94,785,255 (GRCm39) |
R793W |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
Ttll7 |
G |
A |
3: 146,667,510 (GRCm39) |
C792Y |
possibly damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
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 |
|
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'- TGTTAAAACTAAGCTGGGACTGGG -3'
(R):5'- AGCGTGTCAAGGAGAACACTC -3'
Sequencing Primer
(F):5'- ACTGGGAGCCTAGTTTTTATAGTCTC -3'
(R):5'- GAGAACACTCCCCCACGGTG -3'
|
Posted On |
2014-08-25 |