Incidental Mutation 'R6187:Alpk1'
ID |
502222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk1
|
Ensembl Gene |
ENSMUSG00000028028 |
Gene Name |
alpha-kinase 1 |
Synonyms |
8430410J10Rik |
MMRRC Submission |
044327-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6187 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127466991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1096
(Y1096C)
|
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: Y1096C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029662 Gene: ENSMUSG00000028028 AA Change: Y1096C
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: Y1096C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143223 Gene: ENSMUSG00000028028 AA Change: Y1096C
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 |
0.6405 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (79/80) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,259,085 (GRCm39) |
L2937H |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,627,141 (GRCm39) |
I1281V |
possibly damaging |
Het |
Adam2 |
A |
T |
14: 66,306,068 (GRCm39) |
S138T |
possibly damaging |
Het |
Adamts4 |
C |
T |
1: 171,078,562 (GRCm39) |
P61S |
probably damaging |
Het |
Adamts6 |
C |
T |
13: 104,433,933 (GRCm39) |
P121S |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ak1 |
G |
A |
2: 32,523,489 (GRCm39) |
V186M |
probably damaging |
Het |
Ankrd29 |
A |
C |
18: 12,412,747 (GRCm39) |
Y73* |
probably null |
Het |
Asah2 |
A |
T |
19: 32,002,267 (GRCm39) |
S292R |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,377 (GRCm39) |
T105S |
probably damaging |
Het |
Axdnd1 |
T |
A |
1: 156,193,182 (GRCm39) |
|
probably null |
Het |
Bub1b |
T |
G |
2: 118,461,481 (GRCm39) |
S678A |
probably damaging |
Het |
Cdcp3 |
G |
A |
7: 130,872,328 (GRCm39) |
|
probably benign |
Het |
Cenpq |
T |
A |
17: 41,238,089 (GRCm39) |
M142L |
probably benign |
Het |
Ciz1 |
T |
A |
2: 32,260,063 (GRCm39) |
V203E |
possibly damaging |
Het |
Cmklr2 |
T |
C |
1: 63,222,434 (GRCm39) |
E267G |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Cyp2c68 |
A |
T |
19: 39,729,452 (GRCm39) |
S12T |
probably benign |
Het |
Cyp4f18 |
C |
A |
8: 72,747,030 (GRCm39) |
A322S |
probably damaging |
Het |
Disp2 |
A |
G |
2: 118,622,624 (GRCm39) |
S1119G |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
Faxc |
A |
G |
4: 21,958,445 (GRCm39) |
T201A |
possibly damaging |
Het |
Fbxw14 |
A |
G |
9: 109,105,332 (GRCm39) |
S278P |
probably damaging |
Het |
Fpr1 |
G |
T |
17: 18,097,190 (GRCm39) |
C266* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,812,798 (GRCm39) |
I3039T |
probably benign |
Het |
Gas1 |
G |
T |
13: 60,324,186 (GRCm39) |
S190R |
possibly damaging |
Het |
Gemin2 |
A |
G |
12: 59,060,371 (GRCm39) |
T37A |
probably damaging |
Het |
Gm21370 |
T |
C |
13: 120,488,403 (GRCm39) |
I49V |
probably benign |
Het |
Gm8444 |
T |
C |
15: 81,727,807 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
G |
11: 57,128,936 (GRCm39) |
D401G |
possibly damaging |
Het |
Gstk1 |
G |
A |
6: 42,226,794 (GRCm39) |
V187I |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,506,479 (GRCm39) |
D3776G |
probably damaging |
Het |
Itfg1 |
A |
C |
8: 86,563,094 (GRCm39) |
V102G |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,101,307 (GRCm39) |
|
probably null |
Het |
Kif13b |
A |
C |
14: 64,973,664 (GRCm39) |
D338A |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,565 (GRCm39) |
Y145C |
probably damaging |
Het |
Magel2 |
A |
G |
7: 62,027,389 (GRCm39) |
M98V |
unknown |
Het |
Mdfic |
T |
C |
6: 15,721,196 (GRCm39) |
|
probably benign |
Het |
Minar1 |
A |
G |
9: 89,473,220 (GRCm39) |
I897T |
probably damaging |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,384,453 (GRCm39) |
L3475P |
probably damaging |
Het |
Myh14 |
G |
A |
7: 44,276,457 (GRCm39) |
T1216I |
probably damaging |
Het |
Nfatc2 |
T |
A |
2: 168,322,158 (GRCm39) |
I914F |
probably benign |
Het |
Nup58 |
T |
C |
14: 60,478,256 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
T |
A |
2: 87,083,042 (GRCm39) |
S254T |
probably damaging |
Het |
Or10al4 |
T |
C |
17: 38,037,032 (GRCm39) |
L48P |
probably damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,529 (GRCm39) |
|
probably benign |
Het |
Or2y13 |
G |
T |
11: 49,414,338 (GRCm39) |
|
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,198,526 (GRCm39) |
M1T |
probably null |
Het |
Or5p50 |
A |
T |
7: 107,421,781 (GRCm39) |
N298K |
probably benign |
Het |
Or7g20 |
A |
C |
9: 18,946,689 (GRCm39) |
Q90P |
probably benign |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,689,315 (GRCm39) |
Q513R |
probably damaging |
Het |
Padi1 |
C |
T |
4: 140,554,276 (GRCm39) |
V310M |
probably damaging |
Het |
Pard3 |
T |
C |
8: 127,800,023 (GRCm39) |
L11S |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,581,497 (GRCm39) |
D201V |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,622 (GRCm39) |
R253G |
probably benign |
Het |
Plxnb2 |
C |
T |
15: 89,051,461 (GRCm39) |
D253N |
probably damaging |
Het |
Ppp2cb |
T |
C |
8: 34,105,502 (GRCm39) |
S171P |
probably damaging |
Het |
Prr5 |
C |
T |
15: 84,577,973 (GRCm39) |
T94M |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,420,092 (GRCm39) |
F340S |
probably damaging |
Het |
Rpa1 |
C |
G |
11: 75,201,062 (GRCm39) |
G433A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,788,386 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Homo |
Svep1 |
C |
T |
4: 58,072,872 (GRCm39) |
G2146R |
probably damaging |
Het |
Tas2r106 |
A |
G |
6: 131,655,173 (GRCm39) |
M226T |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,420,148 (GRCm39) |
I14V |
probably benign |
Het |
Tekt4 |
G |
C |
17: 25,691,197 (GRCm39) |
V168L |
probably damaging |
Het |
Tnfaip1 |
T |
A |
11: 78,418,372 (GRCm39) |
T232S |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,038 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,774,781 (GRCm39) |
Y2133F |
unknown |
Het |
Uap1l1 |
C |
T |
2: 25,252,741 (GRCm39) |
R433H |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,155,181 (GRCm39) |
F339L |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,608,003 (GRCm39) |
Y699C |
probably damaging |
Het |
Vcpip1 |
T |
C |
1: 9,795,005 (GRCm39) |
H1122R |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,326,888 (GRCm39) |
V391A |
probably benign |
Het |
Vps13c |
C |
T |
9: 67,822,939 (GRCm39) |
R1327W |
probably damaging |
Het |
Yes1 |
A |
G |
5: 32,802,385 (GRCm39) |
Y100C |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,577,134 (GRCm39) |
N1326K |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,890 (GRCm39) |
C1273Y |
probably benign |
Het |
Zfr |
AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA |
AGCAGCAGCA |
15: 12,146,317 (GRCm39) |
|
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 |
|
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'- CTGATGTCACCCAGGAAGCC -3'
(R):5'- AAGATTGGTTTCACATGTTGCTATG -3'
Sequencing Primer
(F):5'- GCCCAAATTAATGTGCTGGATG -3'
(R):5'- GTGGGTTCTGTCTATCCATAGATAC -3'
|
Posted On |
2018-02-27 |