Incidental Mutation 'R0785:Hipk1'
ID |
76808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk1
|
Ensembl Gene |
ENSMUSG00000008730 |
Gene Name |
homeodomain interacting protein kinase 1 |
Synonyms |
1110062K04Rik, Myak |
MMRRC Submission |
038965-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0785 (G1)
|
Quality Score |
201 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 103661641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
AlphaFold |
O88904 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029438
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
586 |
603 |
N/A |
INTRINSIC |
low complexity region
|
679 |
695 |
N/A |
INTRINSIC |
low complexity region
|
941 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1047 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1111 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106845
|
SMART Domains |
Protein: ENSMUSP00000102458 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
586 |
603 |
N/A |
INTRINSIC |
low complexity region
|
679 |
695 |
N/A |
INTRINSIC |
low complexity region
|
896 |
914 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1066 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000118317
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
586 |
603 |
N/A |
INTRINSIC |
low complexity region
|
679 |
695 |
N/A |
INTRINSIC |
low complexity region
|
941 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1047 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1111 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121324
|
SMART Domains |
Protein: ENSMUSP00000114065 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
551 |
569 |
N/A |
INTRINSIC |
low complexity region
|
645 |
661 |
N/A |
INTRINSIC |
low complexity region
|
907 |
925 |
N/A |
INTRINSIC |
low complexity region
|
1013 |
1029 |
N/A |
INTRINSIC |
low complexity region
|
1061 |
1077 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137078
|
SMART Domains |
Protein: ENSMUSP00000120396 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
586 |
603 |
N/A |
INTRINSIC |
low complexity region
|
672 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200071
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
Validation Efficiency |
100% (36/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
Other mutations in Hipk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Hipk1
|
APN |
3 |
103,685,476 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01024:Hipk1
|
APN |
3 |
103,667,952 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01069:Hipk1
|
APN |
3 |
103,685,015 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01798:Hipk1
|
APN |
3 |
103,668,875 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01937:Hipk1
|
APN |
3 |
103,651,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01945:Hipk1
|
APN |
3 |
103,651,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02184:Hipk1
|
APN |
3 |
103,666,066 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02430:Hipk1
|
APN |
3 |
103,667,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02603:Hipk1
|
APN |
3 |
103,657,588 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02632:Hipk1
|
APN |
3 |
103,667,861 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02686:Hipk1
|
APN |
3 |
103,685,333 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03293:Hipk1
|
APN |
3 |
103,684,575 (GRCm39) |
missense |
possibly damaging |
0.83 |
effluvient
|
UTSW |
3 |
103,661,641 (GRCm39) |
splice site |
probably null |
|
R0012:Hipk1
|
UTSW |
3 |
103,670,996 (GRCm39) |
missense |
probably damaging |
0.98 |
R0012:Hipk1
|
UTSW |
3 |
103,670,996 (GRCm39) |
missense |
probably damaging |
0.98 |
R0512:Hipk1
|
UTSW |
3 |
103,667,890 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0741:Hipk1
|
UTSW |
3 |
103,654,128 (GRCm39) |
missense |
probably benign |
0.17 |
R0786:Hipk1
|
UTSW |
3 |
103,651,620 (GRCm39) |
missense |
probably benign |
|
R0833:Hipk1
|
UTSW |
3 |
103,661,612 (GRCm39) |
missense |
probably damaging |
0.98 |
R0836:Hipk1
|
UTSW |
3 |
103,661,612 (GRCm39) |
missense |
probably damaging |
0.98 |
R1165:Hipk1
|
UTSW |
3 |
103,668,840 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1322:Hipk1
|
UTSW |
3 |
103,651,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1384:Hipk1
|
UTSW |
3 |
103,666,090 (GRCm39) |
splice site |
probably benign |
|
R1521:Hipk1
|
UTSW |
3 |
103,685,098 (GRCm39) |
missense |
probably benign |
0.16 |
R1543:Hipk1
|
UTSW |
3 |
103,685,480 (GRCm39) |
missense |
probably benign |
0.00 |
R2085:Hipk1
|
UTSW |
3 |
103,657,670 (GRCm39) |
missense |
probably benign |
0.00 |
R2158:Hipk1
|
UTSW |
3 |
103,667,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Hipk1
|
UTSW |
3 |
103,668,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R3522:Hipk1
|
UTSW |
3 |
103,651,430 (GRCm39) |
missense |
probably damaging |
0.96 |
R4516:Hipk1
|
UTSW |
3 |
103,657,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R4518:Hipk1
|
UTSW |
3 |
103,657,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R4884:Hipk1
|
UTSW |
3 |
103,651,338 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5023:Hipk1
|
UTSW |
3 |
103,684,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R6045:Hipk1
|
UTSW |
3 |
103,654,218 (GRCm39) |
missense |
probably benign |
0.45 |
R6641:Hipk1
|
UTSW |
3 |
103,660,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R6904:Hipk1
|
UTSW |
3 |
103,684,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6925:Hipk1
|
UTSW |
3 |
103,685,561 (GRCm39) |
missense |
unknown |
|
R7169:Hipk1
|
UTSW |
3 |
103,651,533 (GRCm39) |
missense |
probably benign |
|
R7212:Hipk1
|
UTSW |
3 |
103,684,926 (GRCm39) |
nonsense |
probably null |
|
R7313:Hipk1
|
UTSW |
3 |
103,685,574 (GRCm39) |
missense |
unknown |
|
R7678:Hipk1
|
UTSW |
3 |
103,667,866 (GRCm39) |
missense |
probably damaging |
0.98 |
R8133:Hipk1
|
UTSW |
3 |
103,660,710 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8154:Hipk1
|
UTSW |
3 |
103,656,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R8166:Hipk1
|
UTSW |
3 |
103,685,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8941:Hipk1
|
UTSW |
3 |
103,660,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R8989:Hipk1
|
UTSW |
3 |
103,668,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9236:Hipk1
|
UTSW |
3 |
103,671,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R9302:Hipk1
|
UTSW |
3 |
103,685,099 (GRCm39) |
missense |
probably benign |
0.01 |
R9383:Hipk1
|
UTSW |
3 |
103,684,883 (GRCm39) |
missense |
probably damaging |
0.99 |
R9401:Hipk1
|
UTSW |
3 |
103,685,295 (GRCm39) |
missense |
probably benign |
|
R9729:Hipk1
|
UTSW |
3 |
103,668,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Hipk1
|
UTSW |
3 |
103,651,431 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1088:Hipk1
|
UTSW |
3 |
103,671,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGTGCTGCTCCGGCTTTTACCTG -3'
(R):5'- CCCATTCCCCTAGTGAACTGCAAG -3'
Sequencing Primer
(F):5'- TCCTCACAGGGAATCCAGAA -3'
(R):5'- AGAGTTTATATTCCCTTAAGCCAGCC -3'
|
Posted On |
2013-10-16 |