Incidental Mutation 'R0427:Alpk1'
ID |
38728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk1
|
Ensembl Gene |
ENSMUSG00000028028 |
Gene Name |
alpha-kinase 1 |
Synonyms |
8430410J10Rik |
MMRRC Submission |
038629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0427 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 127464720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1186
(V1186E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143223
(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: V1186E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029662 Gene: ENSMUSG00000028028 AA Change: V1186E
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 |
noncoding transcript
Transcript: ENSMUST00000160586
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198955
AA Change: V1186E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143223 Gene: ENSMUSG00000028028 AA Change: V1186E
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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,034 (GRCm39) |
Y698* |
probably null |
Het |
Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
Ikbke |
A |
T |
1: 131,185,647 (GRCm39) |
S620R |
possibly damaging |
Het |
Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
Opa1 |
T |
C |
16: 29,430,279 (GRCm39) |
V439A |
probably damaging |
Het |
Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,570,891 (GRCm39) |
L1143P |
possibly damaging |
Het |
Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
Usp54 |
A |
G |
14: 20,620,432 (GRCm39) |
V691A |
probably benign |
Het |
Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
probably benign |
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 |
|
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 |
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'- TCTTTTCCTGGCAAGCAAGGGTAG -3'
(R):5'- CCTCAAATGCCTTGGCAGAAACG -3'
Sequencing Primer
(F):5'- tgaaatcgacacttgtgattcc -3'
(R):5'- CTTGGCAGAAACGTACTAAGTC -3'
|
Posted On |
2013-05-23 |