Incidental Mutation 'IGL03293:Hipk1'
ID |
415959 |
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 # |
IGL03293
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103684575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 347
(A347S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
AlphaFold |
O88904 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029438
AA Change: A347S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730 AA Change: A347S
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: A347S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102458 Gene: ENSMUSG00000008730 AA Change: A347S
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 |
possibly damaging
Transcript: ENSMUST00000118317
AA Change: A347S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730 AA Change: A347S
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: A347S
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120396 Gene: ENSMUSG00000008730 AA Change: A347S
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: ENSMUST00000154868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196896
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Ccdc66 |
T |
A |
14: 27,212,628 (GRCm39) |
N565I |
probably damaging |
Het |
Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
Dmgdh |
G |
T |
13: 93,843,209 (GRCm39) |
M348I |
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,818,609 (GRCm39) |
D636E |
probably benign |
Het |
Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
Tcp10a |
A |
G |
17: 7,593,891 (GRCm39) |
E72G |
possibly damaging |
Het |
Tmem232 |
A |
G |
17: 65,757,369 (GRCm39) |
S275P |
probably damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
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 |
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 |
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 |
2016-08-02 |