Incidental Mutation 'R6815:Hipk2'
| ID |
537272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
044927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38795777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 164
(A164D)
|
| 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: A164D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: A164D
| 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: A157D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: A157D
| 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: A164D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: A164D
| 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: A164D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: A164D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
G |
14: 54,828,610 (GRCm39) |
N297T |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,282,975 (GRCm39) |
N251S |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,152,380 (GRCm39) |
T1389A |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,958,526 (GRCm39) |
T265A |
probably benign |
Het |
| Ace3 |
C |
T |
11: 105,888,084 (GRCm39) |
Q302* |
probably null |
Het |
| Aip |
A |
T |
19: 4,166,066 (GRCm39) |
H128Q |
probably benign |
Het |
| Akr1b7 |
A |
T |
6: 34,389,269 (GRCm39) |
|
probably null |
Het |
| Arid4a |
T |
A |
12: 71,063,856 (GRCm39) |
|
probably null |
Het |
| Armh1 |
T |
A |
4: 117,087,134 (GRCm39) |
H177L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,407,880 (GRCm39) |
T2256A |
probably benign |
Het |
| Bco1 |
A |
T |
8: 117,840,261 (GRCm39) |
M260L |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,395,024 (GRCm39) |
N305S |
probably benign |
Het |
| Ccdc158 |
T |
A |
5: 92,760,345 (GRCm39) |
Y1035F |
probably damaging |
Het |
| Cd180 |
C |
T |
13: 102,841,937 (GRCm39) |
L328F |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,503 (GRCm39) |
L1121P |
probably damaging |
Het |
| Cyp2u1 |
A |
C |
3: 131,091,659 (GRCm39) |
I287S |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,570,950 (GRCm39) |
M2195I |
probably benign |
Het |
| Dnajc21 |
C |
T |
15: 10,447,777 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
T |
1: 80,516,576 (GRCm39) |
V1398M |
possibly damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,449,272 (GRCm39) |
I44F |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,941,299 (GRCm39) |
I139T |
probably damaging |
Het |
| Gpr4 |
T |
A |
7: 18,956,560 (GRCm39) |
F161I |
probably damaging |
Het |
| Gucy2e |
A |
C |
11: 69,122,827 (GRCm39) |
L516R |
possibly damaging |
Het |
| Hdhd5 |
A |
G |
6: 120,498,170 (GRCm39) |
V143A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,026,501 (GRCm39) |
Q252L |
probably damaging |
Het |
| Heatr5a |
T |
G |
12: 52,002,291 (GRCm39) |
D215A |
possibly damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,416,632 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,602,010 (GRCm39) |
L281P |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,191 (GRCm39) |
S137G |
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,389,061 (GRCm39) |
H159N |
probably benign |
Het |
| Pcdha7 |
A |
G |
18: 37,108,174 (GRCm39) |
T400A |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,618,573 (GRCm39) |
T629A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,426,051 (GRCm39) |
D3204G |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,577,718 (GRCm39) |
F57S |
probably benign |
Het |
| Prr15l |
T |
C |
11: 96,825,433 (GRCm39) |
V21A |
probably damaging |
Het |
| Rag2 |
T |
A |
2: 101,460,900 (GRCm39) |
N403K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
A |
12: 109,560,937 (GRCm39) |
D301Y |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,770,051 (GRCm39) |
N215S |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,024,824 (GRCm39) |
D1061E |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,574,324 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
T |
8: 47,646,136 (GRCm39) |
D441E |
probably damaging |
Het |
| Tmem52b |
G |
A |
6: 129,493,705 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,292 (GRCm39) |
E62G |
probably benign |
Het |
| Trim54 |
G |
T |
5: 31,291,424 (GRCm39) |
V182L |
probably damaging |
Het |
| Trmt6 |
A |
C |
2: 132,651,778 (GRCm39) |
V214G |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,057,134 (GRCm39) |
S613G |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,508 (GRCm39) |
R120S |
possibly damaging |
Het |
| Wdr41 |
A |
T |
13: 95,154,682 (GRCm39) |
K354N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,640,230 (GRCm39) |
K52* |
probably null |
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 |
|
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 |
|
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'- TCTTGAGGATCTTAATGGCCAC -3'
(R):5'- AGTAGCACTTCTGTCACCGG -3'
Sequencing Primer
(F):5'- ATGGCCACAATTTCATTGGTGC -3'
(R):5'- ACTTCTGTCACCGGGCAAGTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation