Incidental Mutation 'R8765:Alpk1'
| ID |
667809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
068599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127466118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1129
(N1129K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029662
AA Change: N1129K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: N1129K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
|
Alpha_kinase
|
1008 |
1215 |
1.03e-81 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198955
AA Change: N1129K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: N1129K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
|
Alpha_kinase
|
1008 |
1215 |
1.03e-81 |
SMART |
|
| Meta Mutation Damage Score |
0.9194 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,566,956 (GRCm39) |
D452N |
possibly damaging |
Het |
| Actr1a |
G |
T |
19: 46,372,787 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
G |
11: 70,240,819 (GRCm39) |
V187A |
probably benign |
Het |
| Angptl1 |
A |
G |
1: 156,684,727 (GRCm39) |
N299D |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,850,731 (GRCm39) |
T128A |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 49,920,100 (GRCm39) |
R743K |
probably damaging |
Het |
| Arsj |
G |
A |
3: 126,232,781 (GRCm39) |
R509K |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,793,534 (GRCm39) |
M630I |
probably damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,751 (GRCm39) |
H122R |
unknown |
Het |
| Bdh2 |
T |
C |
3: 134,996,841 (GRCm39) |
M112T |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,952,843 (GRCm39) |
|
probably null |
Het |
| Cables1 |
T |
C |
18: 12,056,422 (GRCm39) |
L326P |
probably benign |
Het |
| Cacna1c |
C |
A |
6: 118,580,844 (GRCm39) |
A1769S |
|
Het |
| Cacna2d2 |
T |
C |
9: 107,394,358 (GRCm39) |
L567P |
probably damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,327,001 (GRCm39) |
R399H |
probably damaging |
Het |
| Cacng4 |
A |
C |
11: 107,625,976 (GRCm39) |
I205S |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,895 (GRCm39) |
K269E |
probably damaging |
Het |
| Csf1 |
A |
G |
3: 107,663,991 (GRCm39) |
V35A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,760,627 (GRCm39) |
Y169* |
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,384,293 (GRCm39) |
M756K |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,392,159 (GRCm39) |
L3840Q |
possibly damaging |
Het |
| Fabp9 |
T |
C |
3: 10,258,813 (GRCm39) |
*143W |
probably null |
Het |
| Fh1 |
C |
T |
1: 175,435,378 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,707,966 (GRCm39) |
T390A |
probably benign |
Het |
| Fsip1 |
G |
T |
2: 118,082,154 (GRCm39) |
D93E |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,963 (GRCm39) |
D406G |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,108,347 (GRCm39) |
A760E |
probably benign |
Het |
| Hax1 |
T |
C |
3: 89,904,780 (GRCm39) |
I141V |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,786 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,556,413 (GRCm39) |
V2458I |
probably damaging |
Het |
| Igkv4-72 |
A |
G |
6: 69,203,894 (GRCm39) |
V99A |
probably benign |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,915 (GRCm39) |
S16L |
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,151,016 (GRCm39) |
D294E |
possibly damaging |
Het |
| Lcn11 |
A |
G |
2: 25,668,139 (GRCm39) |
Y99C |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,133 (GRCm39) |
R493H |
probably benign |
Het |
| Mon1b |
A |
T |
8: 114,362,881 (GRCm39) |
D43V |
possibly damaging |
Het |
| Mrpl9 |
G |
A |
3: 94,355,129 (GRCm39) |
V234I |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,999,104 (GRCm38) |
E1034D |
probably damaging |
Het |
| Nfxl1 |
T |
C |
5: 72,686,443 (GRCm39) |
H586R |
probably benign |
Het |
| Nit2 |
T |
A |
16: 56,979,832 (GRCm39) |
D211V |
probably benign |
Het |
| Nle1 |
G |
A |
11: 82,793,882 (GRCm39) |
R385C |
probably damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,159 (GRCm39) |
T301A |
probably benign |
Het |
| Or1i2 |
C |
T |
10: 78,448,429 (GRCm39) |
M15I |
probably benign |
Het |
| Or2a25 |
T |
C |
6: 42,889,102 (GRCm39) |
V215A |
probably benign |
Het |
| Or2ab1 |
G |
T |
11: 58,488,785 (GRCm39) |
V182F |
possibly damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,467 (GRCm39) |
H132R |
probably benign |
Het |
| Or6c213 |
A |
G |
10: 129,574,511 (GRCm39) |
Y92H |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,923 (GRCm39) |
I79T |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,492 (GRCm39) |
D91G |
unknown |
Het |
| Plec |
C |
T |
15: 76,066,045 (GRCm39) |
A1342T |
unknown |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,649 (GRCm38) |
V68A |
|
Het |
| Pramel46 |
T |
C |
5: 95,419,447 (GRCm39) |
M1V |
probably null |
Het |
| Psd3 |
A |
T |
8: 68,416,093 (GRCm39) |
D315E |
possibly damaging |
Het |
| Rack1 |
A |
G |
11: 48,694,286 (GRCm39) |
N162S |
probably benign |
Het |
| Slc12a8 |
C |
A |
16: 33,338,731 (GRCm39) |
H11Q |
possibly damaging |
Het |
| Slc44a5 |
A |
T |
3: 153,968,561 (GRCm39) |
D584V |
probably damaging |
Het |
| Spata18 |
T |
C |
5: 73,825,992 (GRCm39) |
S100P |
|
Het |
| Stap2 |
G |
T |
17: 56,310,145 (GRCm39) |
S53R |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,412 (GRCm39) |
|
probably null |
Het |
| Tlk1 |
A |
T |
2: 70,582,581 (GRCm39) |
S183T |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,011,849 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,654,663 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,696,145 (GRCm39) |
V40A |
probably benign |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,585 (GRCm39) |
V151A |
probably benign |
Het |
| Vmn1r198 |
A |
C |
13: 22,539,269 (GRCm39) |
I252L |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,245 (GRCm39) |
W125R |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,688 (GRCm39) |
S189P |
probably damaging |
Het |
| Zfp1006 |
T |
C |
8: 129,948,070 (GRCm39) |
D49G |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,072 (GRCm39) |
C268S |
probably damaging |
Het |
| Zfp932 |
T |
A |
5: 110,154,827 (GRCm39) |
D8E |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,658,055 (GRCm39) |
R619G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,771,431 (GRCm39) |
I31N |
probably damaging |
Het |
|
| Other mutations in Alpk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Alpk1
|
APN |
3 |
127,474,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00722:Alpk1
|
APN |
3 |
127,473,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01066:Alpk1
|
APN |
3 |
127,473,874 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01351:Alpk1
|
APN |
3 |
127,466,011 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01412:Alpk1
|
APN |
3 |
127,473,621 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01469:Alpk1
|
APN |
3 |
127,471,401 (GRCm39) |
splice site |
probably null |
|
|
IGL01585:Alpk1
|
APN |
3 |
127,473,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02308:Alpk1
|
APN |
3 |
127,522,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02325:Alpk1
|
APN |
3 |
127,473,552 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02458:Alpk1
|
APN |
3 |
127,474,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02553:Alpk1
|
APN |
3 |
127,466,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02717:Alpk1
|
APN |
3 |
127,474,749 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02729:Alpk1
|
APN |
3 |
127,474,721 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02832:Alpk1
|
APN |
3 |
127,473,592 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02892:Alpk1
|
APN |
3 |
127,473,771 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03178:Alpk1
|
APN |
3 |
127,473,870 (GRCm39) |
nonsense |
probably null |
|
|
R0427:Alpk1
|
UTSW |
3 |
127,464,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Alpk1
|
UTSW |
3 |
127,473,051 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1174:Alpk1
|
UTSW |
3 |
127,474,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1793:Alpk1
|
UTSW |
3 |
127,471,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Alpk1
|
UTSW |
3 |
127,474,749 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2173:Alpk1
|
UTSW |
3 |
127,477,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Alpk1
|
UTSW |
3 |
127,474,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2373:Alpk1
|
UTSW |
3 |
127,473,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3803:Alpk1
|
UTSW |
3 |
127,473,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3927:Alpk1
|
UTSW |
3 |
127,471,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4358:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4379:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4381:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4470:Alpk1
|
UTSW |
3 |
127,473,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Alpk1
|
UTSW |
3 |
127,473,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4474:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4476:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4512:Alpk1
|
UTSW |
3 |
127,478,120 (GRCm39) |
intron |
probably benign |
|
|
R4594:Alpk1
|
UTSW |
3 |
127,477,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Alpk1
|
UTSW |
3 |
127,473,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4707:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4784:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4785:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4820:Alpk1
|
UTSW |
3 |
127,464,708 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4887:Alpk1
|
UTSW |
3 |
127,467,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Alpk1
|
UTSW |
3 |
127,478,969 (GRCm39) |
splice site |
probably benign |
|
|
R5169:Alpk1
|
UTSW |
3 |
127,464,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Alpk1
|
UTSW |
3 |
127,474,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5351:Alpk1
|
UTSW |
3 |
127,522,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5478:Alpk1
|
UTSW |
3 |
127,471,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Alpk1
|
UTSW |
3 |
127,474,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5781:Alpk1
|
UTSW |
3 |
127,473,684 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5842:Alpk1
|
UTSW |
3 |
127,474,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Alpk1
|
UTSW |
3 |
127,473,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5940:Alpk1
|
UTSW |
3 |
127,464,595 (GRCm39) |
missense |
probably benign |
|
|
R6187:Alpk1
|
UTSW |
3 |
127,466,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Alpk1
|
UTSW |
3 |
127,479,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Alpk1
|
UTSW |
3 |
127,473,858 (GRCm39) |
missense |
probably benign |
|
|
R6701:Alpk1
|
UTSW |
3 |
127,522,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6735:Alpk1
|
UTSW |
3 |
127,518,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Alpk1
|
UTSW |
3 |
127,523,012 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7173:Alpk1
|
UTSW |
3 |
127,478,024 (GRCm39) |
nonsense |
probably null |
|
|
R7258:Alpk1
|
UTSW |
3 |
127,518,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Alpk1
|
UTSW |
3 |
127,489,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Alpk1
|
UTSW |
3 |
127,466,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Alpk1
|
UTSW |
3 |
127,473,427 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7635:Alpk1
|
UTSW |
3 |
127,489,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Alpk1
|
UTSW |
3 |
127,474,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Alpk1
|
UTSW |
3 |
127,466,195 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7732:Alpk1
|
UTSW |
3 |
127,478,041 (GRCm39) |
missense |
|
|
|
R7827:Alpk1
|
UTSW |
3 |
127,473,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8029:Alpk1
|
UTSW |
3 |
127,522,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8383:Alpk1
|
UTSW |
3 |
127,518,085 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8478:Alpk1
|
UTSW |
3 |
127,522,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8816:Alpk1
|
UTSW |
3 |
127,478,024 (GRCm39) |
nonsense |
probably null |
|
|
R8907:Alpk1
|
UTSW |
3 |
127,474,642 (GRCm39) |
nonsense |
probably null |
|
|
R8972:Alpk1
|
UTSW |
3 |
127,473,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Alpk1
|
UTSW |
3 |
127,473,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9039:Alpk1
|
UTSW |
3 |
127,473,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Alpk1
|
UTSW |
3 |
127,479,938 (GRCm39) |
missense |
|
|
|
R9394:Alpk1
|
UTSW |
3 |
127,466,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Alpk1
|
UTSW |
3 |
127,467,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Alpk1
|
UTSW |
3 |
127,478,924 (GRCm39) |
missense |
|
|
|
R9785:Alpk1
|
UTSW |
3 |
127,473,594 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Alpk1
|
UTSW |
3 |
127,467,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Alpk1
|
UTSW |
3 |
127,478,956 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTAAACGGTACCCTGCACATAG -3'
(R):5'- AATAAGTCCCCATGGCAGAGC -3'
Sequencing Primer
(F):5'- GGTACCCTGCACATAGAATGGTC -3'
(R):5'- GAGCCTCAGTCCACACAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation