Incidental Mutation 'R8166:Hipk1'
| ID |
633763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk1
|
| Ensembl Gene |
ENSMUSG00000008730 |
| Gene Name |
homeodomain interacting protein kinase 1 |
| Synonyms |
1110062K04Rik, Myak |
| MMRRC Submission |
067592-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103685489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 42
(Y42C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029438
AA Change: Y42C
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: Y42C
| 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: Y42C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: Y42C
| 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: Y42C
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: Y42C
| 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: Y42C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: Y42C
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
| Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
| Cadm2 |
A |
G |
16: 66,750,197 (GRCm39) |
L9S |
probably benign |
Het |
| Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
| Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
| Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
| Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
| Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
| Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
| Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
| Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,577,880 (GRCm39) |
T335A |
probably benign |
Het |
| Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
| Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
| N4bp2 |
T |
G |
5: 65,977,655 (GRCm39) |
S1518A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
| Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
| Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
| Pum2 |
G |
A |
12: 8,771,739 (GRCm39) |
A361T |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
A |
19: 6,814,811 (GRCm39) |
R264W |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
| Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
| Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
| Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
| Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
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 |
|
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 |
|
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'- AAAGAAACGTTGCTCCTGTGAG -3'
(R):5'- CTGTTGGTGAGCTTCGCATC -3'
Sequencing Primer
(F):5'- AGTCAGGGTCTGGCTGC -3'
(R):5'- TGAGCTTCGCATCGTGAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation