Incidental Mutation 'R5976:Hipk3'
| ID |
471739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hipk3
|
| Ensembl Gene |
ENSMUSG00000027177 |
| Gene Name |
homeodomain interacting protein kinase 3 |
| Synonyms |
DYRK6, FIST3 |
| MMRRC Submission |
044158-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5976 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
104256826-104324791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104301529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 221
(E221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028600]
[ENSMUST00000111124]
[ENSMUST00000111125]
|
| AlphaFold |
Q9ERH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028600
AA Change: E221G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: E221G
| 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 damaging
Transcript: ENSMUST00000111124
AA Change: E221G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: E221G
| 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 damaging
Transcript: ENSMUST00000111125
AA Change: E221G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: E221G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,494,855 (GRCm39) |
|
probably null |
Het |
| Arih2 |
A |
T |
9: 108,485,172 (GRCm39) |
*54R |
probably null |
Het |
| AW146154 |
T |
G |
7: 41,129,721 (GRCm39) |
K465T |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,386,540 (GRCm39) |
Y311C |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,955 (GRCm39) |
A1697T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,536 (GRCm39) |
Y809F |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,338,982 (GRCm39) |
P76L |
probably damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,115 (GRCm39) |
C667S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,452,636 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,410 (GRCm39) |
C64R |
probably damaging |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
C |
A |
3: 86,694,532 (GRCm39) |
R752L |
possibly damaging |
Het |
| Dzank1 |
C |
A |
2: 144,343,409 (GRCm39) |
G318W |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,819,923 (GRCm39) |
I236K |
probably damaging |
Het |
| Eif4e1b |
T |
C |
13: 54,932,635 (GRCm39) |
F75L |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,279 (GRCm39) |
Y266C |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,092,773 (GRCm39) |
S509P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,392 (GRCm39) |
M325T |
probably benign |
Het |
| Fah |
A |
G |
7: 84,243,949 (GRCm39) |
M270T |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,378,754 (GRCm39) |
L532P |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,320 (GRCm39) |
K66* |
probably null |
Het |
| Gprc5c |
A |
T |
11: 114,755,313 (GRCm39) |
Q330L |
possibly damaging |
Het |
| Grin3a |
T |
A |
4: 49,792,602 (GRCm39) |
H377L |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,379 (GRCm39) |
E29D |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,971,173 (GRCm39) |
S326T |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,014 (GRCm39) |
L632P |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,294,614 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
G |
15: 90,820,015 (GRCm39) |
D1583A |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,066,672 (GRCm39) |
V1070I |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,419,770 (GRCm39) |
S946R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,897 (GRCm39) |
S1843P |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,078 (GRCm39) |
Y517H |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,600,778 (GRCm39) |
N51I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,522 (GRCm39) |
A216D |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,761,268 (GRCm39) |
T2025A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,928 (GRCm39) |
V4162A |
possibly damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,554,602 (GRCm39) |
F599I |
probably damaging |
Het |
| Nsun2 |
T |
G |
13: 69,771,271 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
A |
7: 107,655,005 (GRCm39) |
M272K |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,958,997 (GRCm39) |
V160F |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,726,936 (GRCm39) |
W524R |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,593,533 (GRCm39) |
D182E |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,698,586 (GRCm39) |
Q415* |
probably null |
Het |
| Pfkfb2 |
T |
A |
1: 130,635,816 (GRCm39) |
K72* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,480,057 (GRCm39) |
E444G |
probably null |
Het |
| Plec |
T |
C |
15: 76,073,237 (GRCm39) |
Y669C |
probably damaging |
Het |
| Ptp4a3 |
T |
C |
15: 73,627,885 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,625 (GRCm38) |
E969G |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,789 (GRCm39) |
V262E |
probably benign |
Het |
| Ranbp3l |
T |
G |
15: 9,030,916 (GRCm39) |
F65C |
possibly damaging |
Het |
| Rbm19 |
T |
A |
5: 120,278,372 (GRCm39) |
S718R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,593,624 (GRCm39) |
R162L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,416,119 (GRCm39) |
L111P |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,216 (GRCm39) |
S13P |
probably damaging |
Het |
| Rogdi |
T |
A |
16: 4,831,175 (GRCm39) |
I31F |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,112 (GRCm39) |
D179E |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,529,807 (GRCm39) |
C409R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,945,613 (GRCm39) |
T38A |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,003,107 (GRCm39) |
Q1897* |
probably null |
Het |
| St7 |
C |
A |
6: 17,694,221 (GRCm39) |
A4E |
possibly damaging |
Het |
| Tbcel |
T |
A |
9: 42,350,499 (GRCm39) |
I263F |
possibly damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,312,534 (GRCm39) |
V103A |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,936,403 (GRCm39) |
P178S |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,580,426 (GRCm39) |
D558G |
|
Het |
| Zfp541 |
A |
G |
7: 15,810,344 (GRCm39) |
K127R |
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 |
|
R2422:Hipk3
|
UTSW |
2 |
104,301,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TCATACAGGTTCTGCTCCAGC -3'
(R):5'- GAACTGTCCATACTTCCTGCAATG -3'
Sequencing Primer
(F):5'- CATCTCAAAGACTAGGCAGGTGTG -3'
(R):5'- ACCCAGTGACAGTTGTGAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation