Incidental Mutation 'R7498:Alpk1'
ID |
581191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk1
|
Ensembl Gene |
ENSMUSG00000028028 |
Gene Name |
alpha-kinase 1 |
Synonyms |
8430410J10Rik |
MMRRC Submission |
045571-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7498 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127473427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 859
(A859T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029662
AA Change: A859T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000029662 Gene: ENSMUSG00000028028 AA Change: A859T
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 benign
Transcript: ENSMUST00000159720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198955
AA Change: A859T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143223 Gene: ENSMUSG00000028028 AA Change: A859T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (75/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
G |
A |
2: 68,498,012 (GRCm39) |
E148K |
unknown |
Het |
Adgrl2 |
T |
A |
3: 148,564,852 (GRCm39) |
K243* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,989,383 (GRCm39) |
I3556F |
probably benign |
Het |
Akap6 |
C |
T |
12: 53,189,488 (GRCm39) |
R2301* |
probably null |
Het |
Alg6 |
A |
G |
4: 99,636,933 (GRCm39) |
T305A |
probably damaging |
Het |
Apba3 |
T |
A |
10: 81,104,735 (GRCm39) |
F3I |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,967,465 (GRCm39) |
E4151G |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,235,978 (GRCm39) |
F1134I |
probably benign |
Het |
C6 |
A |
T |
15: 4,792,846 (GRCm39) |
H317L |
probably damaging |
Het |
Catsperg2 |
G |
A |
7: 29,416,527 (GRCm39) |
S295L |
possibly damaging |
Het |
Ccdc142 |
G |
T |
6: 83,080,212 (GRCm39) |
R385L |
possibly damaging |
Het |
Ciz1 |
A |
T |
2: 32,261,761 (GRCm39) |
M482L |
probably benign |
Het |
Crisp3 |
A |
G |
17: 40,536,693 (GRCm39) |
|
probably null |
Het |
Dcaf15 |
G |
A |
8: 84,828,392 (GRCm39) |
P233S |
probably damaging |
Het |
Def8 |
A |
G |
8: 124,174,583 (GRCm39) |
N16S |
probably damaging |
Het |
Dnah7b |
T |
G |
1: 46,364,925 (GRCm39) |
S3569A |
probably damaging |
Het |
Dok6 |
C |
T |
18: 89,787,443 (GRCm39) |
|
probably benign |
Het |
Dop1a |
A |
T |
9: 86,376,464 (GRCm39) |
T233S |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,524,044 (GRCm39) |
V1325D |
unknown |
Het |
Fancm |
T |
A |
12: 65,146,165 (GRCm39) |
H629Q |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,062,194 (GRCm39) |
S111G |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,140,239 (GRCm39) |
|
probably null |
Het |
Fdx1 |
A |
C |
9: 51,859,898 (GRCm39) |
L144R |
probably damaging |
Het |
Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
Flot2 |
G |
A |
11: 77,944,188 (GRCm39) |
|
probably null |
Het |
Fndc10 |
C |
T |
4: 155,779,195 (GRCm39) |
R80C |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,459,708 (GRCm39) |
T274S |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,763,565 (GRCm39) |
M1529V |
possibly damaging |
Het |
Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
Hdlbp |
T |
A |
1: 93,341,337 (GRCm39) |
H1007L |
probably benign |
Het |
Hmcn2 |
A |
C |
2: 31,273,487 (GRCm39) |
|
probably null |
Het |
Inhbb |
C |
T |
1: 119,345,608 (GRCm39) |
R227H |
probably damaging |
Het |
Kifc1 |
A |
G |
17: 34,102,846 (GRCm39) |
F256L |
probably benign |
Het |
Lman2 |
A |
T |
13: 55,494,790 (GRCm39) |
F326Y |
probably damaging |
Het |
Mcmdc2 |
T |
C |
1: 9,989,302 (GRCm39) |
V242A |
probably benign |
Het |
Mettl8 |
A |
C |
2: 70,795,969 (GRCm39) |
V306G |
probably damaging |
Het |
Mog |
A |
T |
17: 37,322,984 (GRCm39) |
|
probably null |
Het |
Morc2b |
G |
A |
17: 33,356,833 (GRCm39) |
A313V |
possibly damaging |
Het |
Myh3 |
A |
G |
11: 66,987,874 (GRCm39) |
N1449S |
possibly damaging |
Het |
Myh8 |
C |
A |
11: 67,174,263 (GRCm39) |
T200K |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,450,589 (GRCm39) |
H530Q |
unknown |
Het |
Neb |
C |
T |
2: 52,148,188 (GRCm39) |
R2686H |
probably damaging |
Het |
Nudt2 |
T |
C |
4: 41,480,539 (GRCm39) |
F141L |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,973,539 (GRCm39) |
H1931Y |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,913,553 (GRCm39) |
I73T |
probably damaging |
Het |
Or10al5 |
A |
G |
17: 38,063,242 (GRCm39) |
T166A |
probably damaging |
Het |
Or2d4 |
A |
T |
7: 106,543,575 (GRCm39) |
V211D |
possibly damaging |
Het |
Or5p80 |
T |
A |
7: 108,229,623 (GRCm39) |
C141* |
probably null |
Het |
Plcb1 |
T |
A |
2: 135,104,153 (GRCm39) |
L274* |
probably null |
Het |
Plcb1 |
G |
T |
2: 135,104,154 (GRCm39) |
L274F |
probably damaging |
Het |
Potefam3d |
A |
C |
8: 69,972,475 (GRCm39) |
Y91* |
probably null |
Het |
Prc1 |
C |
T |
7: 79,962,898 (GRCm39) |
T564M |
possibly damaging |
Het |
Psd4 |
G |
A |
2: 24,296,996 (GRCm39) |
R923Q |
probably damaging |
Het |
Ptprj |
G |
A |
2: 90,266,909 (GRCm39) |
Q1300* |
probably null |
Het |
Rapgef6 |
G |
T |
11: 54,510,830 (GRCm39) |
R249L |
probably damaging |
Het |
Slain1 |
G |
A |
14: 103,893,429 (GRCm39) |
|
probably null |
Het |
Slfn9 |
A |
T |
11: 82,873,013 (GRCm39) |
I630N |
probably damaging |
Het |
Smg6 |
G |
A |
11: 74,819,932 (GRCm39) |
A68T |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,127,113 (GRCm39) |
T1966S |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,727,625 (GRCm39) |
M153L |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,418 (GRCm39) |
M357L |
probably benign |
Het |
Tal1 |
A |
T |
4: 114,925,879 (GRCm39) |
H316L |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,497,224 (GRCm39) |
E1207G |
probably damaging |
Het |
Tmem64 |
C |
A |
4: 15,266,176 (GRCm39) |
H75Q |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,085,804 (GRCm39) |
V33A |
probably benign |
Het |
Traj52 |
C |
T |
14: 54,402,818 (GRCm39) |
T15I |
|
Het |
Trim50 |
G |
A |
5: 135,392,768 (GRCm39) |
V228M |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,858,657 (GRCm39) |
I360F |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,853,484 (GRCm39) |
R1835W |
probably damaging |
Het |
Ubn1 |
T |
C |
16: 4,894,969 (GRCm39) |
S672P |
probably damaging |
Het |
Ugt2a2 |
C |
T |
5: 87,622,500 (GRCm39) |
C156Y |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,904,157 (GRCm39) |
S2223G |
unknown |
Het |
Wnt7b |
G |
T |
15: 85,427,880 (GRCm39) |
A194E |
probably damaging |
Het |
Zmpste24 |
A |
G |
4: 120,940,028 (GRCm39) |
V206A |
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 |
|
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 |
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'- CCATGGTGAGTATGAGCTGG -3'
(R):5'- CAGACGATGGACTATCACCC -3'
Sequencing Primer
(F):5'- CTGGAGTTTTGGCTGCTCTTCAG -3'
(R):5'- GATGGACTATCACCCTCTCAGGTAG -3'
|
Posted On |
2019-10-17 |