Incidental Mutation 'R6641:Hipk1'
ID |
525780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk1
|
Ensembl Gene |
ENSMUSG00000008730 |
Gene Name |
homeodomain interacting protein kinase 1 |
Synonyms |
1110062K04Rik, Myak |
MMRRC Submission |
044762-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6641 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103660721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 738
(L738Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
AlphaFold |
O88904 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029438
AA Change: L738Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730 AA Change: L738Q
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
|
SMART Domains |
Protein: ENSMUSP00000102458 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
|
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: L738Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730 AA Change: L738Q
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: ENSMUST00000126351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135634
|
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
100% (32/32) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
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 |
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'- CTTCAGCAAATGTTGGGGAGG -3'
(R):5'- GATGCAAACCCGTCTGAACC -3'
Sequencing Primer
(F):5'- ATGTAGCAAGGACACAGCC -3'
(R):5'- CCAGATAACCTGCCTCGGTG -3'
|
Posted On |
2018-06-22 |