Incidental Mutation 'R3522:Hipk1'
ID |
267523 |
Institutional Source |
Beutler Lab
|
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 # |
R3522 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103651430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1111
(V1111A)
|
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: V1156A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730 AA Change: V1156A
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 damaging
Transcript: ENSMUST00000106845
AA Change: V1111A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102458 Gene: ENSMUSG00000008730 AA Change: V1111A
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: V1156A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730 AA Change: V1156A
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
|
Meta Mutation Damage Score |
0.0701 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (72/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
G |
3: 96,592,378 (GRCm39) |
E888G |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,004,918 (GRCm39) |
F150S |
probably damaging |
Het |
Atp10d |
G |
T |
5: 72,396,500 (GRCm39) |
R235L |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,653,055 (GRCm39) |
V2A |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,075,102 (GRCm39) |
L15Q |
probably benign |
Het |
Cavin3 |
C |
A |
7: 105,130,350 (GRCm39) |
G154V |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,821,830 (GRCm39) |
D593V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,168,647 (GRCm39) |
K161E |
probably damaging |
Het |
Chil4 |
A |
T |
3: 106,111,056 (GRCm39) |
N279K |
probably benign |
Het |
Chst13 |
T |
G |
6: 90,295,245 (GRCm39) |
D56A |
probably damaging |
Het |
Cnn1 |
C |
A |
9: 22,010,664 (GRCm39) |
H5N |
probably benign |
Het |
Cpsf4l |
T |
A |
11: 113,593,319 (GRCm39) |
K88N |
probably damaging |
Het |
Ctnnbl1 |
G |
T |
2: 157,713,113 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
C |
1: 53,657,275 (GRCm39) |
F834V |
probably damaging |
Het |
Fbxo41 |
A |
G |
6: 85,461,163 (GRCm39) |
S182P |
probably benign |
Het |
Fkbp5 |
T |
C |
17: 28,634,970 (GRCm39) |
T180A |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,334 (GRCm39) |
I2082N |
unknown |
Het |
Gm4968 |
A |
G |
6: 127,210,725 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 116,761,747 (GRCm39) |
H612Q |
probably benign |
Het |
Gsg1 |
A |
T |
6: 135,218,251 (GRCm39) |
V212D |
probably damaging |
Het |
Hormad1 |
A |
T |
3: 95,483,596 (GRCm39) |
Q136L |
probably benign |
Het |
Ifi35 |
T |
A |
11: 101,348,511 (GRCm39) |
S147R |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,754,624 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 87,998,089 (GRCm39) |
A282V |
probably null |
Het |
Jmy |
T |
C |
13: 93,590,558 (GRCm39) |
D515G |
probably damaging |
Het |
Kctd10 |
G |
A |
5: 114,512,984 (GRCm39) |
R64C |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,040,757 (GRCm39) |
V121A |
probably damaging |
Het |
Lcn3 |
G |
A |
2: 25,656,133 (GRCm39) |
V63M |
possibly damaging |
Het |
Lmx1b |
T |
A |
2: 33,529,543 (GRCm39) |
Y72F |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,389,424 (GRCm39) |
D3164G |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,758,927 (GRCm39) |
V222M |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,958,702 (GRCm39) |
|
probably benign |
Het |
Myo7b |
C |
A |
18: 32,143,132 (GRCm39) |
V189F |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,250,355 (GRCm39) |
S533P |
probably damaging |
Het |
Ndrg3 |
T |
C |
2: 156,785,947 (GRCm39) |
D164G |
probably damaging |
Het |
Nol11 |
C |
T |
11: 107,064,454 (GRCm39) |
C500Y |
possibly damaging |
Het |
Nsd3 |
A |
G |
8: 26,196,642 (GRCm39) |
N1208D |
probably benign |
Het |
Nup155 |
C |
T |
15: 8,186,162 (GRCm39) |
|
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,347 (GRCm39) |
C308S |
probably benign |
Het |
Or6c38 |
A |
G |
10: 128,929,711 (GRCm39) |
I44T |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,081 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b54 |
A |
T |
9: 38,687,016 (GRCm39) |
D155V |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,844,684 (GRCm39) |
L1425P |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,279,250 (GRCm39) |
Y777H |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,085,396 (GRCm39) |
E184G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
T |
C |
3: 100,950,718 (GRCm39) |
E865G |
probably damaging |
Het |
Ptpn13 |
G |
T |
5: 103,737,720 (GRCm39) |
|
probably benign |
Het |
Pygb |
G |
T |
2: 150,670,473 (GRCm39) |
V763F |
probably benign |
Het |
Ros1 |
A |
C |
10: 51,967,091 (GRCm39) |
Y1705* |
probably null |
Het |
Sec61a2 |
A |
G |
2: 5,898,027 (GRCm39) |
F5L |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,614,102 (GRCm39) |
|
probably null |
Het |
Sntg2 |
A |
G |
12: 30,362,566 (GRCm39) |
V60A |
probably damaging |
Het |
Sppl2a |
A |
G |
2: 126,762,242 (GRCm39) |
C280R |
possibly damaging |
Het |
Srrm4 |
A |
C |
5: 116,584,603 (GRCm39) |
M1R |
probably null |
Het |
Sult1c2 |
T |
C |
17: 54,279,043 (GRCm39) |
E91G |
probably damaging |
Het |
Themis2 |
C |
G |
4: 132,512,906 (GRCm39) |
R440P |
probably damaging |
Het |
Tmem229a |
A |
G |
6: 24,955,058 (GRCm39) |
L232P |
probably benign |
Het |
Trappc1 |
T |
C |
11: 69,215,248 (GRCm39) |
F43L |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,951,708 (GRCm39) |
Y982N |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,604,339 (GRCm39) |
M139K |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,640,057 (GRCm39) |
|
probably null |
Het |
Vmn1r184 |
T |
A |
7: 25,967,008 (GRCm39) |
Y251* |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,283,544 (GRCm39) |
N76D |
possibly damaging |
Het |
Vmn1r71 |
C |
A |
7: 10,481,792 (GRCm39) |
V233F |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,743,857 (GRCm39) |
|
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,420,358 (GRCm39) |
S756G |
probably damaging |
Het |
Wdr36 |
T |
A |
18: 32,994,538 (GRCm39) |
|
probably null |
Het |
Wdr86 |
A |
G |
5: 24,923,305 (GRCm39) |
V129A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,576,940 (GRCm39) |
L47S |
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 |
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 |
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'- TCGTGCTCATCAACTACAAGTAAG -3'
(R):5'- AGACAGCAGGCATTTGTGGC -3'
Sequencing Primer
(F):5'- GAATACTGACTGATCTTGGTAGGAC -3'
(R):5'- TACGCCTTCCAGCATGGCAG -3'
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Posted On |
2015-02-18 |