Incidental Mutation 'R7678:Hipk1'
| ID |
592569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk1
|
| Ensembl Gene |
ENSMUSG00000008730 |
| Gene Name |
homeodomain interacting protein kinase 1 |
| Synonyms |
1110062K04Rik, Myak |
| MMRRC Submission |
045745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103647131-103698879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103667866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 567
(T567I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029438]
[ENSMUST00000106845]
[ENSMUST00000118317]
[ENSMUST00000137078]
|
| AlphaFold |
O88904 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029438
AA Change: T567I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: T567I
| 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: T567I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: T567I
| 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: T567I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: T567I
| 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: ENSMUST00000137078
AA Change: T567I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: T567I
| 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 |
0.0790 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
A |
5: 8,137,750 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,607,074 (GRCm39) |
D1325G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,572 (GRCm39) |
S1042P |
probably damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,044,649 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Capn13 |
C |
A |
17: 73,622,300 (GRCm39) |
M663I |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,480 (GRCm39) |
T241K |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,956,400 (GRCm39) |
E72G |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,558,768 (GRCm39) |
Y1899F |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,353 (GRCm39) |
V194A |
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,382,809 (GRCm39) |
L1320I |
probably damaging |
Het |
| E2f2 |
T |
A |
4: 135,920,137 (GRCm39) |
L374* |
probably null |
Het |
| Echdc3 |
C |
T |
2: 6,217,687 (GRCm39) |
G29S |
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,494 (GRCm39) |
S269P |
probably damaging |
Het |
| Elmo2 |
G |
A |
2: 165,133,664 (GRCm39) |
P775S |
unknown |
Het |
| Eno3 |
T |
A |
11: 70,549,993 (GRCm39) |
|
probably null |
Het |
| Faf1 |
G |
A |
4: 109,687,061 (GRCm39) |
R267K |
probably benign |
Het |
| Fam162a |
G |
A |
16: 35,870,307 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
T |
A |
1: 36,603,532 (GRCm39) |
D473V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,156 (GRCm39) |
T2519I |
probably damaging |
Het |
| Foxc2 |
A |
G |
8: 121,844,834 (GRCm39) |
Y494C |
probably damaging |
Het |
| Gcnt2 |
C |
A |
13: 41,107,195 (GRCm39) |
Q355K |
probably benign |
Het |
| Glg1 |
G |
T |
8: 111,905,497 (GRCm39) |
H595N |
probably benign |
Het |
| Gm9913 |
A |
T |
2: 125,348,480 (GRCm39) |
H97L |
unknown |
Het |
| Hbegf |
T |
A |
18: 36,640,601 (GRCm39) |
N152I |
possibly damaging |
Het |
| Idh3a |
C |
T |
9: 54,502,453 (GRCm39) |
P78S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,761 (GRCm39) |
M2304K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,573,428 (GRCm39) |
T723A |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,089,048 (GRCm39) |
F2220Y |
probably benign |
Het |
| Kpnb1 |
C |
T |
11: 97,059,999 (GRCm39) |
R557Q |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,325 (GRCm39) |
D155G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,409,922 (GRCm39) |
C1554R |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,662 (GRCm39) |
D112G |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,984,141 (GRCm39) |
E439G |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,301,868 (GRCm39) |
F185Y |
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,527,101 (GRCm39) |
M234K |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,459,698 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
C |
11: 80,567,719 (GRCm39) |
M254V |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,465,662 (GRCm39) |
V1368A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,096,714 (GRCm39) |
V4999A |
probably damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,986,927 (GRCm39) |
Q196K |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,149,833 (GRCm39) |
E339D |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
T |
C |
14: 50,651,471 (GRCm39) |
F157L |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,096,937 (GRCm39) |
S36G |
probably damaging |
Het |
| Or7d11 |
T |
C |
9: 19,965,901 (GRCm39) |
N168S |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,308,882 (GRCm39) |
V1199M |
probably damaging |
Het |
| Ppfibp2 |
T |
A |
7: 107,315,873 (GRCm39) |
M285K |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,142 (GRCm39) |
Y704H |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,282 (GRCm39) |
M170V |
probably benign |
Het |
| Scfd2 |
A |
C |
5: 74,619,297 (GRCm39) |
F440V |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,688,302 (GRCm39) |
D86V |
possibly damaging |
Het |
| Smg5 |
A |
G |
3: 88,261,202 (GRCm39) |
N685S |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,333 (GRCm39) |
R111G |
possibly damaging |
Het |
| Sry |
A |
T |
Y: 2,663,248 (GRCm39) |
D137E |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,309 (GRCm39) |
D35G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,766 (GRCm39) |
V1895D |
possibly damaging |
Het |
| Tfap4 |
G |
T |
16: 4,369,630 (GRCm39) |
Q112K |
possibly damaging |
Het |
| Trmt10c |
T |
A |
16: 55,855,302 (GRCm39) |
D111V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,881 (GRCm39) |
I2415T |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,901 (GRCm39) |
M300L |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,416,943 (GRCm39) |
F72I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,425 (GRCm39) |
H408L |
probably benign |
Het |
| Zan |
C |
T |
5: 137,461,802 (GRCm39) |
V1126M |
unknown |
Het |
| Zfp493 |
A |
T |
13: 67,927,814 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
C |
A |
4: 63,004,858 (GRCm39) |
A86E |
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 |
|
|
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 |
|
|
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'- TGTTAGAACAACCCTTGGTTCTTC -3'
Sequencing Primer
(F):5'- TGCACGGCAAGGACTTTTAC -3'
(R):5'- GAACAACCCTTGGTTCTTCTTTCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation