Incidental Mutation 'R8029:Alpk1'
| ID |
617809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
067468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127522934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 36
(D36G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029662
AA Change: D36G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: D36G
| 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 |
possibly damaging
Transcript: ENSMUST00000198955
AA Change: D36G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: D36G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,186,129 (GRCm39) |
I118T |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,619,163 (GRCm39) |
L468P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,802,996 (GRCm39) |
L559Q |
probably damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,180 (GRCm39) |
R506* |
probably null |
Het |
| Aspm |
A |
G |
1: 139,399,370 (GRCm39) |
H1045R |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,300,564 (GRCm39) |
R2099S |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cd34 |
A |
C |
1: 194,640,860 (GRCm39) |
M242L |
probably benign |
Het |
| Cdh24 |
T |
A |
14: 54,876,856 (GRCm39) |
N49I |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,482 (GRCm39) |
N192S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,519 (GRCm39) |
I331V |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 182,870,852 (GRCm39) |
S523P |
probably damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,897 (GRCm39) |
H44R |
probably benign |
Het |
| Dnajc30 |
G |
T |
5: 135,093,186 (GRCm39) |
A28S |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd1 |
A |
T |
2: 119,359,204 (GRCm39) |
H226Q |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,054,944 (GRCm39) |
V291E |
possibly damaging |
Het |
| Get3 |
T |
C |
8: 85,746,456 (GRCm39) |
M131V |
probably benign |
Het |
| Gfi1b |
A |
T |
2: 28,503,687 (GRCm39) |
|
probably null |
Het |
| Grk3 |
T |
A |
5: 113,109,508 (GRCm39) |
I150L |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,278 (GRCm39) |
F17S |
probably benign |
Het |
| Ighg1 |
T |
C |
12: 113,292,765 (GRCm39) |
K268R |
|
Het |
| Lama1 |
G |
T |
17: 68,124,589 (GRCm39) |
R2883M |
|
Het |
| Lpar3 |
T |
C |
3: 145,946,718 (GRCm39) |
M132T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,338,685 (GRCm39) |
T4351A |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,496,148 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
C |
A |
8: 120,274,544 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
T |
C |
13: 77,178,005 (GRCm39) |
Y931H |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,504 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
T |
11: 67,102,066 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,762,219 (GRCm39) |
S497P |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,214,255 (GRCm39) |
D470G |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,121,383 (GRCm39) |
P722S |
possibly damaging |
Het |
| Nphp1 |
T |
C |
2: 127,583,036 (GRCm39) |
T626A |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,198,477 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,896 (GRCm39) |
Y143C |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,313,037 (GRCm39) |
F159Y |
possibly damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,376 (GRCm39) |
T71A |
probably benign |
Het |
| Or7e178 |
A |
G |
9: 20,225,643 (GRCm39) |
F191S |
possibly damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,090 (GRCm39) |
S224P |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 13,047,578 (GRCm39) |
E125D |
probably benign |
Het |
| P2ry1 |
C |
A |
3: 60,910,943 (GRCm39) |
N27K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,330,346 (GRCm39) |
I177N |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,735,237 (GRCm39) |
I193L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,889,940 (GRCm39) |
L53* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm39) |
E531G |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,417,523 (GRCm39) |
Q1361H |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,006,197 (GRCm39) |
E795G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,711,992 (GRCm39) |
V295I |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,590,997 (GRCm39) |
V116A |
possibly damaging |
Het |
| Rnf43 |
T |
A |
11: 87,622,720 (GRCm39) |
L480H |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,598 (GRCm39) |
T1601A |
not run |
Het |
| Setd1a |
C |
G |
7: 127,385,386 (GRCm39) |
Q698E |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 81,920,091 (GRCm39) |
Y100H |
probably benign |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Snx13 |
A |
C |
12: 35,169,885 (GRCm39) |
H610P |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,191 (GRCm39) |
H543R |
possibly damaging |
Het |
| Spdl1 |
T |
C |
11: 34,713,419 (GRCm39) |
R217G |
probably benign |
Het |
| Spop |
G |
A |
11: 95,365,193 (GRCm39) |
E113K |
probably benign |
Het |
| Sult2a3 |
G |
A |
7: 13,855,553 (GRCm39) |
P101L |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,254,600 (GRCm39) |
H348Y |
probably damaging |
Het |
| Tmie |
T |
C |
9: 110,696,555 (GRCm39) |
T109A |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,381,551 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,770,524 (GRCm39) |
L58P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,040 (GRCm39) |
S839P |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,744 (GRCm39) |
D221V |
probably benign |
Het |
| Vps41 |
C |
T |
13: 19,007,955 (GRCm39) |
Q263* |
probably null |
Het |
| Zfand3 |
A |
T |
17: 30,354,407 (GRCm39) |
T75S |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,629,520 (GRCm39) |
C202R |
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 |
|
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 |
|
R8765:Alpk1
|
UTSW |
3 |
127,466,118 (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'- TCTGCAACAAAGTGGGTTTCTTC -3'
(R):5'- CCTTCAAGGGCCTTCTTTATTGAG -3'
Sequencing Primer
(F):5'- GGGTTTCTTCCCTGCAGC -3'
(R):5'- TTGAGAATCAATGCCTCTCCTAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation