Incidental Mutation 'R9236:Hipk1'
| ID |
700468 |
| 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 # |
R9236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103671789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 437
(W437R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029438
AA Change: W437R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: W437R
| 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: W437R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: W437R
| 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 damaging
Transcript: ENSMUST00000118317
AA Change: W437R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: W437R
| 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: ENSMUST00000137078
AA Change: W437R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: W437R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,626,712 (GRCm39) |
T1514A |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,874,893 (GRCm39) |
|
probably null |
Het |
| Adam12 |
A |
C |
7: 133,614,022 (GRCm39) |
L109R |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,709,782 (GRCm39) |
Y146* |
probably null |
Het |
| Ap5m1 |
G |
T |
14: 49,311,064 (GRCm39) |
V45L |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,006,150 (GRCm39) |
I113F |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,600,424 (GRCm39) |
M1639K |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,051 (GRCm39) |
E974G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,428,125 (GRCm39) |
C980R |
probably damaging |
Het |
| Cggbp1 |
C |
T |
16: 64,676,318 (GRCm39) |
A128V |
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,789,684 (GRCm39) |
R898L |
unknown |
Het |
| Cycs |
C |
T |
6: 50,543,507 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,938 (GRCm39) |
Y68* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,876,970 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif2s1 |
A |
T |
12: 78,921,343 (GRCm39) |
I83L |
probably benign |
Het |
| Eppk1 |
T |
A |
15: 75,990,510 (GRCm39) |
R2124* |
probably null |
Het |
| Fkbp15 |
G |
C |
4: 62,254,664 (GRCm39) |
L279V |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,992,460 (GRCm39) |
V412A |
unknown |
Het |
| Gfap |
A |
G |
11: 102,786,327 (GRCm39) |
I194T |
probably damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,965,977 (GRCm39) |
T350K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,490,643 (GRCm39) |
G783D |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,809,396 (GRCm39) |
P1136S |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,368,221 (GRCm39) |
N130K |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,982,383 (GRCm39) |
I532V |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,261,066 (GRCm39) |
I1474K |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,186,772 (GRCm39) |
E371G |
unknown |
Het |
| Myo5b |
T |
A |
18: 74,853,934 (GRCm39) |
D1184E |
probably benign |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,479 (GRCm39) |
M167T |
probably benign |
Het |
| N4bp2l2 |
T |
C |
5: 150,585,734 (GRCm39) |
H82R |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,712 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,153 (GRCm39) |
V119E |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntmt1 |
T |
A |
2: 30,712,407 (GRCm39) |
L150Q |
probably damaging |
Het |
| Or5b99 |
G |
T |
19: 12,976,763 (GRCm39) |
V138F |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,033,206 (GRCm39) |
*315W |
probably null |
Het |
| Or8b40 |
A |
T |
9: 38,027,496 (GRCm39) |
M140L |
possibly damaging |
Het |
| Or8h7 |
C |
T |
2: 86,720,622 (GRCm39) |
S299N |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,106,496 (GRCm39) |
N301S |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,839,003 (GRCm39) |
S51T |
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,009,345 (GRCm39) |
K88R |
probably damaging |
Het |
| Pnma8b |
A |
T |
7: 16,679,964 (GRCm39) |
D316V |
unknown |
Het |
| Pop1 |
C |
A |
15: 34,499,558 (GRCm39) |
P41Q |
probably damaging |
Het |
| Rcor1 |
A |
C |
12: 111,070,080 (GRCm39) |
K292N |
|
Het |
| Rps6kc1 |
C |
T |
1: 190,532,200 (GRCm39) |
D601N |
probably damaging |
Het |
| Sema7a |
A |
T |
9: 57,862,408 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,698,702 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,308 (GRCm39) |
T983A |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,194,158 (GRCm39) |
R213* |
probably null |
Het |
| Tbc1d2 |
G |
A |
4: 46,609,029 (GRCm39) |
T736I |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,703,550 (GRCm39) |
L1895R |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,594 (GRCm39) |
Y1289F |
probably damaging |
Het |
| Vmn1r70 |
G |
A |
7: 10,368,016 (GRCm39) |
C168Y |
probably damaging |
Het |
| Vtcn1 |
C |
A |
3: 100,795,533 (GRCm39) |
R167S |
probably benign |
Het |
| Zfp369 |
G |
A |
13: 65,445,010 (GRCm39) |
V718I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,032,354 (GRCm39) |
T529A |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,836,922 (GRCm39) |
N46D |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,342 (GRCm39) |
V461A |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,312 (GRCm39) |
N1024S |
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 |
|
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 |
|
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'- GCAGCTGCATTGGCTTCATTATC -3'
(R):5'- CTGGCCAGAGTTACTATTTCAGTG -3'
Sequencing Primer
(F):5'- CAGTTTTTATCCCAGCATAAGGC -3'
(R):5'- TATTTCACAAACACAAGGCC -3'
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| Posted On |
2022-02-07 |
Incidental Mutation