Incidental Mutation 'R2422:Hipk3'
| ID |
249347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
040384-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104301830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 121
(G121R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028600
AA Change: G121R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: G121R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
844 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111124
AA Change: G121R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: G121R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
844 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111125
AA Change: G121R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: G121R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
197 |
525 |
1.58e-76 |
SMART |
|
low complexity region
|
865 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1138 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
99% (77/78) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired insulin secretion and glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,421,864 (GRCm39) |
N47I |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,001 (GRCm39) |
F457S |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adck2 |
C |
T |
6: 39,560,932 (GRCm39) |
A440V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,984 (GRCm39) |
V240D |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Ccdc77 |
A |
G |
6: 120,316,120 (GRCm39) |
C186R |
probably benign |
Het |
| Cdk12 |
T |
G |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,242,317 (GRCm39) |
|
probably benign |
Het |
| Celf2 |
G |
A |
2: 6,558,700 (GRCm39) |
T364I |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,949,413 (GRCm39) |
S574R |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,313,318 (GRCm39) |
L56P |
unknown |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Dctn1 |
C |
T |
6: 83,176,782 (GRCm39) |
L1241F |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,148,379 (GRCm39) |
F1505S |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,418,291 (GRCm39) |
|
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Entpd7 |
A |
T |
19: 43,716,527 (GRCm39) |
Y507F |
possibly damaging |
Het |
| Fbp1 |
T |
C |
13: 63,019,120 (GRCm39) |
K24E |
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,048 (GRCm39) |
N76K |
probably damaging |
Het |
| Glrb |
A |
G |
3: 80,767,542 (GRCm39) |
I226T |
probably damaging |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4950 |
T |
A |
18: 51,998,856 (GRCm39) |
Q33L |
probably benign |
Het |
| Gnat2 |
A |
T |
3: 108,002,855 (GRCm39) |
M88L |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 122,191,589 (GRCm39) |
Y311H |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Homez |
C |
A |
14: 55,095,031 (GRCm39) |
V226F |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,258 (GRCm39) |
A1034D |
unknown |
Het |
| Kcnc4 |
G |
T |
3: 107,352,863 (GRCm39) |
P572T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,760,147 (GRCm39) |
E1037G |
unknown |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,194,852 (GRCm39) |
T618M |
possibly damaging |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,906 (GRCm39) |
S263P |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,472,935 (GRCm39) |
V152A |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,096,872 (GRCm39) |
D876V |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,690,893 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,246,283 (GRCm39) |
T230S |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,140,325 (GRCm39) |
L651F |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,937,506 (GRCm39) |
R1169H |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
T |
12: 8,798,931 (GRCm39) |
Q930L |
possibly damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,792 (GRCm39) |
E67G |
probably damaging |
Het |
| Rgs9 |
C |
A |
11: 109,116,603 (GRCm39) |
|
probably null |
Het |
| Semp2l1 |
C |
T |
1: 32,584,942 (GRCm39) |
A323T |
possibly damaging |
Het |
| Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
C |
A |
9: 56,825,822 (GRCm39) |
M546I |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,934,935 (GRCm39) |
W714R |
probably benign |
Het |
| Spata2 |
C |
T |
2: 167,326,126 (GRCm39) |
R231Q |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,765 (GRCm39) |
R2341C |
probably benign |
Het |
| Tas2r116 |
A |
T |
6: 132,832,557 (GRCm39) |
I53F |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,600,349 (GRCm39) |
E110G |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,363 (GRCm39) |
E203V |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
| Wdr77 |
A |
T |
3: 105,867,337 (GRCm39) |
K62* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,455,465 (GRCm39) |
A1153E |
probably benign |
Het |
| Zfp266 |
C |
A |
9: 20,410,558 (GRCm39) |
V540L |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,943,421 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp951 |
G |
A |
5: 104,963,143 (GRCm39) |
T141I |
probably benign |
Het |
|
| Other mutations in Hipk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Hipk3
|
APN |
2 |
104,260,576 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL00937:Hipk3
|
APN |
2 |
104,263,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01719:Hipk3
|
APN |
2 |
104,267,434 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01802:Hipk3
|
APN |
2 |
104,302,198 (GRCm39) |
splice site |
probably benign |
|
|
IGL01932:Hipk3
|
APN |
2 |
104,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Hipk3
|
APN |
2 |
104,261,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:Hipk3
|
APN |
2 |
104,301,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02525:Hipk3
|
APN |
2 |
104,301,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Hipk3
|
APN |
2 |
104,301,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Hipk3
|
APN |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Hipk3
|
UTSW |
2 |
104,269,638 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0277:Hipk3
|
UTSW |
2 |
104,271,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Hipk3
|
UTSW |
2 |
104,263,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Hipk3
|
UTSW |
2 |
104,261,594 (GRCm39) |
nonsense |
probably null |
|
|
R0597:Hipk3
|
UTSW |
2 |
104,263,982 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1079:Hipk3
|
UTSW |
2 |
104,302,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Hipk3
|
UTSW |
2 |
104,302,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1244:Hipk3
|
UTSW |
2 |
104,263,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Hipk3
|
UTSW |
2 |
104,271,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1616:Hipk3
|
UTSW |
2 |
104,264,090 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Hipk3
|
UTSW |
2 |
104,263,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Hipk3
|
UTSW |
2 |
104,260,533 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1969:Hipk3
|
UTSW |
2 |
104,264,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Hipk3
|
UTSW |
2 |
104,301,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1985:Hipk3
|
UTSW |
2 |
104,264,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2105:Hipk3
|
UTSW |
2 |
104,269,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3028:Hipk3
|
UTSW |
2 |
104,264,135 (GRCm39) |
missense |
probably benign |
|
|
R3747:Hipk3
|
UTSW |
2 |
104,271,628 (GRCm39) |
nonsense |
probably null |
|
|
R3923:Hipk3
|
UTSW |
2 |
104,301,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Hipk3
|
UTSW |
2 |
104,271,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4604:Hipk3
|
UTSW |
2 |
104,269,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Hipk3
|
UTSW |
2 |
104,264,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5193:Hipk3
|
UTSW |
2 |
104,260,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5769:Hipk3
|
UTSW |
2 |
104,265,298 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5843:Hipk3
|
UTSW |
2 |
104,270,569 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5906:Hipk3
|
UTSW |
2 |
104,302,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Hipk3
|
UTSW |
2 |
104,301,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Hipk3
|
UTSW |
2 |
104,268,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Hipk3
|
UTSW |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Hipk3
|
UTSW |
2 |
104,264,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Hipk3
|
UTSW |
2 |
104,301,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Hipk3
|
UTSW |
2 |
104,269,753 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6713:Hipk3
|
UTSW |
2 |
104,276,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Hipk3
|
UTSW |
2 |
104,269,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7517:Hipk3
|
UTSW |
2 |
104,265,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8780:Hipk3
|
UTSW |
2 |
104,264,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8843:Hipk3
|
UTSW |
2 |
104,268,242 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9186:Hipk3
|
UTSW |
2 |
104,301,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Hipk3
|
UTSW |
2 |
104,276,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Hipk3
|
UTSW |
2 |
104,301,850 (GRCm39) |
missense |
probably benign |
|
|
R9398:Hipk3
|
UTSW |
2 |
104,263,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9552:Hipk3
|
UTSW |
2 |
104,301,850 (GRCm39) |
missense |
probably benign |
|
|
R9584:Hipk3
|
UTSW |
2 |
104,301,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9641:Hipk3
|
UTSW |
2 |
104,267,376 (GRCm39) |
missense |
probably benign |
|
|
X0021:Hipk3
|
UTSW |
2 |
104,271,711 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Hipk3
|
UTSW |
2 |
104,264,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCACTAACTGATAGTCGC -3'
(R):5'- ATCCTTCCACGAAAGGTAGTGC -3'
Sequencing Primer
(F):5'- GCACTAACTGATAGTCGCCTTCC -3'
(R):5'- TCCACGAAAGGTAGTGCTTTCCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation