Incidental Mutation 'R7169:Hipk1'
| ID |
558109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk1
|
| Ensembl Gene |
ENSMUSG00000008730 |
| Gene Name |
homeodomain interacting protein kinase 1 |
| Synonyms |
1110062K04Rik, Myak |
| MMRRC Submission |
045229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7169 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103651533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1122
(A1122T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000106852]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029438
AA Change: A1122T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: A1122T
| 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: A1077T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: A1077T
| 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 |
probably benign
Transcript: ENSMUST00000118317
AA Change: A1122T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: A1122T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
A |
G |
10: 61,040,707 (GRCm39) |
V870A |
probably damaging |
Het |
| Ahi1 |
T |
G |
10: 20,930,918 (GRCm39) |
D919E |
probably damaging |
Het |
| Angptl6 |
T |
A |
9: 20,786,475 (GRCm39) |
R390S |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,634,755 (GRCm39) |
I873V |
possibly damaging |
Het |
| BC024063 |
T |
C |
10: 81,946,293 (GRCm39) |
Y638H |
possibly damaging |
Het |
| Brsk1 |
T |
C |
7: 4,718,403 (GRCm39) |
S751P |
probably benign |
Het |
| Calhm5 |
T |
A |
10: 33,968,160 (GRCm39) |
T298S |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,875,078 (GRCm39) |
A287T |
possibly damaging |
Het |
| Clic3 |
G |
A |
2: 25,348,731 (GRCm39) |
R237H |
probably benign |
Het |
| Cog6 |
G |
T |
3: 52,897,387 (GRCm39) |
P562H |
possibly damaging |
Het |
| Csnk2a2 |
A |
G |
8: 96,215,006 (GRCm39) |
Y24H |
|
Het |
| Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,409,233 (GRCm39) |
D71G |
possibly damaging |
Het |
| Dennd6b |
A |
T |
15: 89,073,055 (GRCm39) |
F161I |
possibly damaging |
Het |
| Dnah14 |
G |
T |
1: 181,529,930 (GRCm39) |
V2235L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,015,729 (GRCm39) |
V3636D |
probably damaging |
Het |
| Dpm1 |
A |
T |
2: 168,053,343 (GRCm39) |
Y207* |
probably null |
Het |
| Eml3 |
A |
G |
19: 8,910,828 (GRCm39) |
T227A |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eppk1 |
C |
A |
15: 75,990,114 (GRCm39) |
A2256S |
probably benign |
Het |
| Etnppl |
A |
T |
3: 130,414,345 (GRCm39) |
N80I |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 23,031,845 (GRCm39) |
N236K |
probably benign |
Het |
| Gm12886 |
T |
G |
4: 121,273,948 (GRCm39) |
Q89H |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,204,358 (GRCm39) |
T200A |
probably benign |
Het |
| Icos |
A |
G |
1: 61,034,705 (GRCm39) |
D176G |
probably damaging |
Het |
| Igkv5-43 |
T |
A |
6: 69,800,519 (GRCm39) |
Y56F |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,332,519 (GRCm39) |
|
probably null |
Het |
| Ildr2 |
G |
A |
1: 166,135,503 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
A |
9: 21,306,722 (GRCm39) |
H305Q |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,715,901 (GRCm39) |
H532R |
probably benign |
Het |
| Lmbr1l |
CACTACATACTACATACTACATACTACATACTACATACTACATAC |
CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC |
15: 98,807,039 (GRCm39) |
|
probably null |
Het |
| Lmbr1l |
ACTACAT |
ACTACATGCTACAT |
15: 98,807,075 (GRCm39) |
|
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,619 (GRCm39) |
F36S |
probably damaging |
Het |
| Lrrc25 |
T |
G |
8: 71,070,437 (GRCm39) |
S73A |
probably benign |
Het |
| Lrrn1 |
T |
C |
6: 107,544,565 (GRCm39) |
L121P |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,916,495 (GRCm39) |
V116L |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,548,836 (GRCm39) |
D1009V |
probably damaging |
Het |
| Mybpc3 |
T |
C |
2: 90,948,524 (GRCm39) |
V4A |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,497,636 (GRCm39) |
S979P |
possibly damaging |
Het |
| Ntn5 |
C |
T |
7: 45,336,198 (GRCm39) |
R210* |
probably null |
Het |
| Nuak1 |
T |
C |
10: 84,210,609 (GRCm39) |
D493G |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,659,304 (GRCm39) |
D11E |
probably benign |
Het |
| Or13a1 |
G |
T |
6: 116,471,025 (GRCm39) |
A152S |
probably benign |
Het |
| Or4f14 |
A |
G |
2: 111,742,939 (GRCm39) |
M112T |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,943 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or56a41 |
T |
C |
7: 104,740,397 (GRCm39) |
I150V |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pkm |
A |
G |
9: 59,578,908 (GRCm39) |
D296G |
possibly damaging |
Het |
| Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
| Pop5 |
T |
A |
5: 115,378,287 (GRCm39) |
V77E |
possibly damaging |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,365 (GRCm39) |
S552P |
probably damaging |
Het |
| Rabggta |
C |
G |
14: 55,958,358 (GRCm39) |
R101P |
probably damaging |
Het |
| Rorc |
A |
T |
3: 94,296,487 (GRCm39) |
E243V |
probably benign |
Het |
| Setmar |
C |
A |
6: 108,042,049 (GRCm39) |
A3E |
possibly damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
| Slc12a7 |
G |
A |
13: 73,932,679 (GRCm39) |
V56M |
probably benign |
Het |
| Snph |
T |
A |
2: 151,436,307 (GRCm39) |
N207I |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,280,362 (GRCm39) |
V531A |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
A |
T |
8: 45,850,056 (GRCm39) |
M871K |
probably damaging |
Het |
| Tnfrsf11a |
A |
T |
1: 105,772,421 (GRCm39) |
R569S |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,054,328 (GRCm39) |
V1294A |
probably benign |
Het |
| Vldlr |
G |
A |
19: 27,221,728 (GRCm39) |
V698I |
probably benign |
Het |
| Vmn2r73 |
G |
A |
7: 85,507,663 (GRCm39) |
Q550* |
probably null |
Het |
| Zdhhc5 |
A |
T |
2: 84,532,675 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
A |
8: 109,678,030 (GRCm39) |
Y3027N |
possibly damaging |
Het |
| Zfp663 |
C |
T |
2: 165,194,359 (GRCm39) |
S620N |
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 |
|
|
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'- AGACCCGATGTAGGACTGAG -3'
(R):5'- AGCTTCAACCTCGCAGGAAAG -3'
Sequencing Primer
(F):5'- ACTGAGTGGCAAACTGGTG -3'
(R):5'- CCTCGCAGGAAAGAAGCAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation