Incidental Mutation 'IGL02184:Hipk1'
| ID |
284280 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hipk1
|
| Ensembl Gene |
ENSMUSG00000008730 |
| Gene Name |
homeodomain interacting protein kinase 1 |
| Synonyms |
1110062K04Rik, Myak |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103666066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 589
(L589P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029438
AA Change: L589P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: L589P
| 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 benign
Transcript: ENSMUST00000106845
AA Change: L589P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: L589P
| 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 benign
Transcript: ENSMUST00000118317
AA Change: L589P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: L589P
| 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 |
noncoding transcript
Transcript: ENSMUST00000135634
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137078
AA Change: L589P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: L589P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
C |
T |
3: 89,253,241 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
G |
13: 63,215,925 (GRCm39) |
I399S |
possibly damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,363,067 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,815,029 (GRCm39) |
M1417K |
probably damaging |
Het |
| Camk2d |
A |
T |
3: 126,591,422 (GRCm39) |
R297S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,069,191 (GRCm39) |
H215L |
probably damaging |
Het |
| Cytip |
T |
C |
2: 58,023,750 (GRCm39) |
S357G |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,951 (GRCm39) |
R101G |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,006,872 (GRCm39) |
Y273H |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,858,885 (GRCm39) |
S57G |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,655 (GRCm39) |
L141Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,675,650 (GRCm39) |
T388M |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,731,520 (GRCm39) |
S337P |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,388,435 (GRCm39) |
I2330K |
unknown |
Het |
| Mdfic |
T |
A |
6: 15,770,366 (GRCm39) |
I124K |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,225,059 (GRCm39) |
S75G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,821,761 (GRCm39) |
|
probably null |
Het |
| Myom1 |
G |
A |
17: 71,379,132 (GRCm39) |
S632N |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,094 (GRCm39) |
K473E |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,099 (GRCm39) |
C28* |
probably null |
Het |
| Nwd2 |
G |
T |
5: 63,963,020 (GRCm39) |
G868V |
probably damaging |
Het |
| Or4a73 |
G |
A |
2: 89,420,637 (GRCm39) |
T274I |
probably damaging |
Het |
| Or4c58 |
G |
A |
2: 89,674,729 (GRCm39) |
A196V |
probably damaging |
Het |
| Or5w1 |
A |
G |
2: 87,487,136 (GRCm39) |
L43P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,258,928 (GRCm39) |
M1559L |
possibly damaging |
Het |
| Pmm2 |
T |
A |
16: 8,455,668 (GRCm39) |
D10E |
possibly damaging |
Het |
| Polm |
T |
C |
11: 5,780,137 (GRCm39) |
Q300R |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,111,467 (GRCm39) |
N1208K |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,648 (GRCm39) |
D291G |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,259,810 (GRCm39) |
K37E |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,578,889 (GRCm39) |
F268S |
probably damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,599,948 (GRCm39) |
Y127H |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,703,506 (GRCm39) |
Y260C |
probably damaging |
Het |
| Sorbs3 |
C |
T |
14: 70,421,455 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,214,917 (GRCm39) |
Y534C |
unknown |
Het |
| Tmem237 |
T |
C |
1: 59,159,270 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
A |
T |
17: 43,396,354 (GRCm39) |
N546I |
probably benign |
Het |
| Tpgs2 |
T |
A |
18: 25,273,630 (GRCm39) |
D177V |
probably damaging |
Het |
| Tpx2 |
C |
T |
2: 152,724,240 (GRCm39) |
R339* |
probably null |
Het |
| Trim12c |
T |
C |
7: 103,997,430 (GRCm39) |
Y42C |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,564,272 (GRCm39) |
E341V |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,258,416 (GRCm39) |
|
probably null |
Het |
| Ubr1 |
T |
A |
2: 120,730,989 (GRCm39) |
I1221F |
probably benign |
Het |
| Ucp2 |
C |
T |
7: 100,148,529 (GRCm39) |
A301V |
probably benign |
Het |
| Zfyve1 |
T |
C |
12: 83,605,467 (GRCm39) |
I411V |
probably benign |
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 |
|
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 |
|
R0785:Hipk1
|
UTSW |
3 |
103,661,641 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation