Incidental Mutation 'R0012:Hipk1'
ID |
19124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk1
|
Ensembl Gene |
ENSMUSG00000008730 |
Gene Name |
homeodomain interacting protein kinase 1 |
Synonyms |
1110062K04Rik, Myak |
MMRRC Submission |
038307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0012 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103670996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 467
(M467T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
AlphaFold |
O88904 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029438
AA Change: M467T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029438 Gene: ENSMUSG00000008730 AA Change: M467T
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 |
possibly damaging
Transcript: ENSMUST00000106845
AA Change: M467T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102458 Gene: ENSMUSG00000008730 AA Change: M467T
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: M467T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730 AA Change: M467T
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: ENSMUST00000135634
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137078
AA Change: M467T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120396 Gene: ENSMUSG00000008730 AA Change: M467T
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: ENSMUST00000198162
|
Meta Mutation Damage Score |
0.2303 |
Coding Region Coverage |
- 1x: 78.7%
- 3x: 69.0%
- 10x: 44.7%
- 20x: 26.0%
|
Validation Efficiency |
91% (95/104) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
Gm2962 |
T |
A |
1: 170,752,908 (GRCm39) |
|
probably benign |
Het |
Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
Ints15 |
A |
G |
5: 143,299,937 (GRCm39) |
L137P |
probably damaging |
Het |
Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,339 (GRCm39) |
S560G |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
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 |
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 |
|
Posted On |
2013-03-25 |