Incidental Mutation 'R2158:Hipk1'
| ID |
234973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk1
|
| Ensembl Gene |
ENSMUSG00000008730 |
| Gene Name |
homeodomain interacting protein kinase 1 |
| Synonyms |
1110062K04Rik, Myak |
| MMRRC Submission |
040161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103667854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 571
(L571P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029438
AA Change: L571P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: L571P
| 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: L571P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: L571P
| 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: L571P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: L571P
| 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: L571P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: L571P
| 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 |
|
| Meta Mutation Damage Score |
0.3635 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
| 4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
| Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
| Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
| Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
| Armc3 |
C |
A |
2: 19,253,444 (GRCm39) |
P195Q |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
| Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
| Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
| Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
| Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
| Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
| Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
| Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
| Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
| Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
| Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
| Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
| Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
| Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
| Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
| Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
| Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
| Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
| Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTGCATTATTATCACACATG -3'
(R):5'- CTTGTTAGAACAACCCTTGGTTC -3'
Sequencing Primer
(F):5'- TGCACGGCAAGGACTTTTAC -3'
(R):5'- GAACAACCCTTGGTTCTTCTTTCTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation