Incidental Mutation 'IGL02686:Hipk1'
ID |
303568 |
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 # |
IGL02686
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103685333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 94
(S94N)
|
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: S94N
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730 AA Change: S94N
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: S94N
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102458 Gene: ENSMUSG00000008730 AA Change: S94N
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: S94N
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730 AA Change: S94N
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: ENSMUST00000123155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135634
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137078
AA Change: S94N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120396 Gene: ENSMUSG00000008730 AA Change: S94N
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: ENSMUST00000138430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154868
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
C |
T |
12: 81,468,448 (GRCm39) |
G58S |
possibly damaging |
Het |
Adcyap1r1 |
G |
A |
6: 55,458,110 (GRCm39) |
A304T |
probably benign |
Het |
Adipoq |
A |
G |
16: 22,975,865 (GRCm39) |
T110A |
possibly damaging |
Het |
Ago2 |
T |
C |
15: 72,985,591 (GRCm39) |
Y668C |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,983,811 (GRCm39) |
D575E |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,503,504 (GRCm39) |
E317K |
probably benign |
Het |
Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
Bicc1 |
C |
A |
10: 70,779,190 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,721,840 (GRCm39) |
M559T |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,113,563 (GRCm39) |
I1245T |
probably benign |
Het |
Bltp3b |
A |
T |
10: 89,641,055 (GRCm39) |
Q742L |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,369,155 (GRCm39) |
A294V |
probably damaging |
Het |
Cacna1h |
G |
A |
17: 25,604,723 (GRCm39) |
P1197S |
possibly damaging |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cts8 |
T |
C |
13: 61,398,784 (GRCm39) |
T241A |
probably benign |
Het |
Cubn |
T |
C |
2: 13,330,037 (GRCm39) |
I2615V |
possibly damaging |
Het |
Cxcl12 |
A |
G |
6: 117,150,546 (GRCm39) |
|
probably benign |
Het |
Fig4 |
T |
C |
10: 41,140,000 (GRCm39) |
D307G |
probably damaging |
Het |
Flt1 |
T |
C |
5: 147,525,412 (GRCm39) |
I909V |
probably damaging |
Het |
Foxk1 |
T |
A |
5: 142,439,340 (GRCm39) |
S427T |
probably damaging |
Het |
Gosr1 |
G |
A |
11: 76,641,688 (GRCm39) |
T130M |
probably benign |
Het |
Grik1 |
G |
T |
16: 87,806,649 (GRCm39) |
|
probably null |
Het |
Ints7 |
T |
C |
1: 191,318,704 (GRCm39) |
L147P |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,156,086 (GRCm39) |
D551G |
probably damaging |
Het |
Or11g25 |
G |
A |
14: 50,723,426 (GRCm39) |
M170I |
probably benign |
Het |
Or5p81 |
A |
T |
7: 108,267,093 (GRCm39) |
I157F |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,535,516 (GRCm39) |
|
probably benign |
Het |
Ren1 |
A |
T |
1: 133,286,207 (GRCm39) |
N250I |
possibly damaging |
Het |
Ripply2 |
A |
C |
9: 86,898,009 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,768,975 (GRCm39) |
|
probably benign |
Het |
Smad3 |
T |
A |
9: 63,575,064 (GRCm39) |
K51M |
probably damaging |
Het |
Snapc1 |
C |
A |
12: 74,011,370 (GRCm39) |
|
probably benign |
Het |
Srfbp1 |
T |
G |
18: 52,608,726 (GRCm39) |
V42G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
Tat |
T |
C |
8: 110,723,481 (GRCm39) |
V323A |
probably damaging |
Het |
Tdo2 |
T |
C |
3: 81,875,462 (GRCm39) |
N164S |
probably benign |
Het |
Tefm |
T |
A |
11: 80,027,722 (GRCm39) |
L345F |
probably damaging |
Het |
Tmem145 |
C |
A |
7: 25,014,150 (GRCm39) |
N407K |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,607,767 (GRCm39) |
N445S |
probably damaging |
Het |
Vmn2r20 |
A |
G |
6: 123,362,585 (GRCm39) |
M733T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,533,526 (GRCm39) |
V477M |
possibly damaging |
Het |
Zdhhc4 |
A |
G |
5: 143,306,146 (GRCm39) |
F194S |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,821,771 (GRCm39) |
S25T |
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 |
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 |
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 |