Incidental Mutation 'R6578:Hipk4'
ID |
523863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hipk4
|
Ensembl Gene |
ENSMUSG00000040424 |
Gene Name |
homeodomain interacting protein kinase 4 |
Synonyms |
LOC233020 |
MMRRC Submission |
044702-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6578 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27222692-27230600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27227812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 186
(I186T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037134]
[ENSMUST00000108353]
[ENSMUST00000117095]
[ENSMUST00000117611]
|
AlphaFold |
Q3V016 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037134
|
SMART Domains |
Protein: ENSMUSP00000043175 Gene: ENSMUSG00000040424
Domain | Start | End | E-Value | Type |
SCOP:d1howa_
|
1 |
142 |
8e-12 |
SMART |
Blast:S_TKc
|
1 |
143 |
8e-99 |
BLAST |
PDB:3ANR|D
|
1 |
155 |
1e-12 |
PDB |
low complexity region
|
192 |
206 |
N/A |
INTRINSIC |
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108353
AA Change: I186T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103990 Gene: ENSMUSG00000040424 AA Change: I186T
Domain | Start | End | E-Value | Type |
S_TKc
|
11 |
347 |
9.31e-74 |
SMART |
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117095
|
SMART Domains |
Protein: ENSMUSP00000113820 Gene: ENSMUSG00000003363
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
PLDc
|
194 |
221 |
9.25e-10 |
SMART |
Pfam:PLDc_3
|
224 |
401 |
1.6e-43 |
PFAM |
PLDc
|
409 |
435 |
1.19e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117611
|
SMART Domains |
Protein: ENSMUSP00000112942 Gene: ENSMUSG00000003363
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
PLDc
|
194 |
221 |
9.25e-10 |
SMART |
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
PLDc
|
409 |
435 |
1.19e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155287
|
Meta Mutation Damage Score |
0.8681 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
probably damaging |
Het |
|
Other mutations in Hipk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01756:Hipk4
|
APN |
7 |
27,227,968 (GRCm39) |
nonsense |
probably null |
|
IGL02712:Hipk4
|
APN |
7 |
27,228,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Hipk4
|
UTSW |
7 |
27,228,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R3813:Hipk4
|
UTSW |
7 |
27,223,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Hipk4
|
UTSW |
7 |
27,227,995 (GRCm39) |
missense |
probably benign |
0.00 |
R5121:Hipk4
|
UTSW |
7 |
27,228,917 (GRCm39) |
missense |
probably benign |
0.02 |
R5738:Hipk4
|
UTSW |
7 |
27,227,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R5776:Hipk4
|
UTSW |
7 |
27,228,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6142:Hipk4
|
UTSW |
7 |
27,228,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R7637:Hipk4
|
UTSW |
7 |
27,222,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8160:Hipk4
|
UTSW |
7 |
27,223,186 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8343:Hipk4
|
UTSW |
7 |
27,223,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R9324:Hipk4
|
UTSW |
7 |
27,228,834 (GRCm39) |
missense |
probably damaging |
0.96 |
R9465:Hipk4
|
UTSW |
7 |
27,229,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGGCAGGGTCATTCATAAG -3'
(R):5'- CGCTTGAAGAAGTGGTGAGC -3'
Sequencing Primer
(F):5'- CTAGGCAGACACAGGAGATACAC -3'
(R):5'- CTTGAAGAAGTGGTGAGCCTTGC -3'
|
Posted On |
2018-06-22 |