Incidental Mutation 'IGL01945:Hipk1'
| ID |
279225 |
| 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 # |
IGL01945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103651320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1148
(I1148V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000106852]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029438
AA Change: I1193V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: I1193V
| 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 |
possibly damaging
Transcript: ENSMUST00000106845
AA Change: I1148V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: I1148V
| 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: ENSMUST00000106852
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118317
AA Change: I1193V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: I1193V
| 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: 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
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,229,254 (GRCm39) |
V45A |
probably benign |
Het |
| Adam11 |
G |
A |
11: 102,663,736 (GRCm39) |
V305M |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,111,891 (GRCm39) |
K919E |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,889,934 (GRCm39) |
T101A |
probably benign |
Het |
| Apbb2 |
T |
A |
5: 66,557,594 (GRCm39) |
D289V |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,612 (GRCm39) |
V520A |
possibly damaging |
Het |
| Atp5mc3 |
G |
A |
2: 73,741,313 (GRCm39) |
R9C |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 60,263,609 (GRCm39) |
L375P |
probably damaging |
Het |
| Cavin1 |
A |
T |
11: 100,861,246 (GRCm39) |
F16Y |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,441 (GRCm39) |
V83L |
probably benign |
Het |
| Ccdc80 |
T |
A |
16: 44,938,608 (GRCm39) |
S772T |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
| Coa5 |
A |
T |
1: 37,468,979 (GRCm39) |
C24S |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,489 (GRCm39) |
V1139D |
unknown |
Het |
| Ddx46 |
C |
A |
13: 55,802,885 (GRCm39) |
S469* |
probably null |
Het |
| Ep300 |
A |
G |
15: 81,500,310 (GRCm39) |
|
probably benign |
Het |
| Fcna |
A |
T |
2: 25,517,847 (GRCm39) |
M1K |
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
| Hepacam2 |
T |
A |
6: 3,487,117 (GRCm39) |
Y4F |
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,141,613 (GRCm39) |
T9A |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
| Krt75 |
G |
A |
15: 101,478,599 (GRCm39) |
T345M |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,047,953 (GRCm39) |
H260Q |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,370,069 (GRCm39) |
G156D |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
| Nudt17 |
A |
G |
3: 96,614,355 (GRCm39) |
I201T |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
| Or6c8 |
A |
T |
10: 128,915,172 (GRCm39) |
I220N |
probably damaging |
Het |
| Or7g27 |
A |
T |
9: 19,250,628 (GRCm39) |
S291C |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,235 (GRCm39) |
D35G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,062,711 (GRCm39) |
Y107F |
probably benign |
Het |
| Plek2 |
T |
A |
12: 78,938,922 (GRCm39) |
H279L |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,278,520 (GRCm39) |
T116A |
possibly damaging |
Het |
| Rbck1 |
G |
A |
2: 152,160,236 (GRCm39) |
P481L |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,584 (GRCm39) |
N229S |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,339,073 (GRCm39) |
W293R |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
| Sgip1 |
T |
C |
4: 102,823,439 (GRCm39) |
Y707H |
probably damaging |
Het |
| Slc17a5 |
G |
T |
9: 78,495,214 (GRCm39) |
D12E |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,189,715 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
| Tgfbr3 |
A |
G |
5: 107,269,224 (GRCm39) |
|
probably null |
Het |
| Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
| Trhr |
T |
C |
15: 44,060,540 (GRCm39) |
V20A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt5a |
A |
G |
14: 28,240,519 (GRCm39) |
N223S |
probably 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 |
|
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 |
|
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