Incidental Mutation 'R7994:Hipk2'
| ID |
651928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk2
|
| Ensembl Gene |
ENSMUSG00000061436 |
| Gene Name |
homeodomain interacting protein kinase 2 |
| Synonyms |
B230339E18Rik, 1110014O20Rik, Stank |
| MMRRC Submission |
046035-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R7994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38671325-38853099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38795403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 289
(K289E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160360]
[ENSMUST00000160962]
[ENSMUST00000161779]
[ENSMUST00000162359]
|
| AlphaFold |
Q9QZR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160360
AA Change: K289E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: K289E
| 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: K282E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: K282E
| 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 |
possibly damaging
Transcript: ENSMUST00000161779
AA Change: K289E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: K289E
| 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: K289E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: K289E
| 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 |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
C |
5: 124,220,090 (GRCm39) |
F318L |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,146,120 (GRCm39) |
I496T |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,504,657 (GRCm39) |
N184Y |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,640 (GRCm39) |
I388V |
probably benign |
Het |
| Brpf1 |
C |
G |
6: 113,292,002 (GRCm39) |
H349Q |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,028 (GRCm39) |
D542G |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,252,501 (GRCm39) |
V870A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,762,003 (GRCm39) |
I504F |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,640,627 (GRCm39) |
G315D |
unknown |
Het |
| Commd10 |
A |
G |
18: 47,091,986 (GRCm39) |
E11G |
possibly damaging |
Het |
| Coq9 |
A |
C |
8: 95,579,785 (GRCm39) |
N247H |
probably benign |
Het |
| Cort |
A |
T |
4: 149,209,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,702 (GRCm39) |
D403G |
probably damaging |
Het |
| Efcab8 |
G |
A |
2: 153,625,724 (GRCm39) |
G128E |
|
Het |
| Ercc5 |
T |
C |
1: 44,217,494 (GRCm39) |
S946P |
possibly damaging |
Het |
| Fam221b |
C |
T |
4: 43,665,514 (GRCm39) |
V315M |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,308,459 (GRCm39) |
K245E |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gadd45g |
T |
C |
13: 52,001,803 (GRCm39) |
S123P |
possibly damaging |
Het |
| Gm49368 |
A |
G |
7: 127,684,818 (GRCm39) |
D396G |
possibly damaging |
Het |
| Gsto1 |
G |
A |
19: 47,847,899 (GRCm39) |
R132K |
probably benign |
Het |
| Gtf3c2 |
T |
C |
5: 31,327,217 (GRCm39) |
I327V |
possibly damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,621 (GRCm39) |
T90N |
probably benign |
Het |
| Ilrun |
C |
A |
17: 27,986,917 (GRCm39) |
A270S |
probably benign |
Het |
| Madcam1 |
A |
T |
10: 79,504,069 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,152,770 (GRCm39) |
Y418H |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,681,070 (GRCm39) |
|
probably null |
Het |
| Notch4 |
C |
A |
17: 34,797,064 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Npas2 |
G |
T |
1: 39,367,418 (GRCm39) |
C313F |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,032,930 (GRCm39) |
M565V |
probably benign |
Het |
| Or10al3 |
C |
T |
17: 38,012,326 (GRCm39) |
T255I |
probably damaging |
Het |
| Or1x6 |
T |
G |
11: 50,938,967 (GRCm39) |
V11G |
probably benign |
Het |
| Or52a5 |
T |
A |
7: 103,426,607 (GRCm39) |
H315L |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,635 (GRCm39) |
V287D |
probably damaging |
Het |
| Or6k4 |
G |
T |
1: 173,964,273 (GRCm39) |
|
probably benign |
Het |
| Otop1 |
C |
T |
5: 38,457,195 (GRCm39) |
T318I |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,724 (GRCm39) |
E144G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,230 (GRCm39) |
L18P |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,798,776 (GRCm39) |
D939G |
probably damaging |
Het |
| Prkag3 |
T |
A |
1: 74,786,414 (GRCm39) |
Q177L |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,785,945 (GRCm39) |
S431I |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,936,431 (GRCm39) |
T475I |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,027,033 (GRCm39) |
D303V |
probably damaging |
Het |
| Snrnp25 |
T |
A |
11: 32,157,569 (GRCm39) |
V49E |
probably benign |
Het |
| Sobp |
A |
T |
10: 42,897,163 (GRCm39) |
Y807* |
probably null |
Het |
| Spata31e4 |
T |
A |
13: 50,856,900 (GRCm39) |
V846D |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,140,930 (GRCm39) |
V1570A |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,422,742 (GRCm39) |
V731M |
probably damaging |
Het |
| Syt2 |
A |
T |
1: 134,675,330 (GRCm39) |
M394L |
possibly damaging |
Het |
| Tafa4 |
C |
T |
6: 96,840,847 (GRCm39) |
E49K |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,797,074 (GRCm39) |
I1104N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,621,439 (GRCm39) |
Y15667C |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,277 (GRCm39) |
T237A |
probably benign |
Het |
| Zfp157 |
T |
A |
5: 138,453,450 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,074 (GRCm39) |
S614I |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,758,072 (GRCm39) |
N52K |
possibly 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 |
|
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 |
|
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'- GCAGACAGCTTTGGACACATG -3'
(R):5'- TGGCCATTAAGATCCTCAAGAAC -3'
Sequencing Primer
(F):5'- CAGCTTTGGACACATGACTAGCTG -3'
(R):5'- TCAAGAACCACCCCTCCTATG -3'
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| Posted On |
2020-09-15 |
Incidental Mutation