Incidental Mutation 'R8974:Alpk1'
| ID |
683299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
068808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8974 (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 127473580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 808
(T808A)
|
| 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: T808A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: T808A
| 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: T808A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: T808A
| 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 |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,143,716 (GRCm39) |
V342A |
probably damaging |
Het |
| Acot4 |
T |
C |
12: 84,090,515 (GRCm39) |
F404S |
probably benign |
Het |
| Apba3 |
T |
C |
10: 81,109,032 (GRCm39) |
V154A |
|
Het |
| Arhgap27 |
A |
T |
11: 103,224,756 (GRCm39) |
F476I |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,305 (GRCm39) |
D122E |
probably benign |
Het |
| Asb10 |
T |
C |
5: 24,745,209 (GRCm39) |
I47V |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,959,525 (GRCm39) |
T322A |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,078,963 (GRCm39) |
V100A |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,715,621 (GRCm39) |
C664S |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cep89 |
A |
G |
7: 35,097,493 (GRCm39) |
S40G |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,446,380 (GRCm39) |
K3315R |
|
Het |
| Cyp2d34 |
T |
C |
15: 82,500,537 (GRCm39) |
E434G |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,278 (GRCm39) |
Y30H |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
| Fam168a |
A |
T |
7: 100,484,611 (GRCm39) |
T234S |
probably benign |
Het |
| Fzd3 |
G |
T |
14: 65,472,440 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Galnt7 |
A |
G |
8: 58,105,934 (GRCm39) |
S27P |
|
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,340 (GRCm39) |
Y68C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,408 (GRCm39) |
C68R |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,899 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,459,992 (GRCm39) |
M206T |
probably damaging |
Het |
| Lrrc75b |
T |
C |
10: 75,389,848 (GRCm39) |
T168A |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,674,223 (GRCm39) |
F1003L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,994 (GRCm39) |
L633P |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,028,014 (GRCm39) |
T341I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,361,857 (GRCm39) |
V4441D |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,124,932 (GRCm39) |
E130G |
|
Het |
| Nod2 |
T |
A |
8: 89,390,433 (GRCm39) |
Y247N |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,143,163 (GRCm39) |
V169E |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,203 (GRCm39) |
I141N |
probably damaging |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,489 (GRCm39) |
Y226C |
unknown |
Het |
| Or6c200-ps1 |
A |
C |
10: 128,869,905 (GRCm39) |
C269G |
probably damaging |
Het |
| Pcdh9 |
A |
C |
14: 94,125,113 (GRCm39) |
N352K |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,405,839 (GRCm39) |
G30D |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,675 (GRCm39) |
D159G |
possibly damaging |
Het |
| Plxna4 |
G |
T |
6: 32,216,447 (GRCm39) |
R543S |
possibly damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,486,698 (GRCm39) |
E543K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,617,726 (GRCm39) |
|
probably null |
Het |
| Proca1 |
T |
C |
11: 78,096,144 (GRCm39) |
S172P |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,723,791 (GRCm39) |
M1578I |
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,092 (GRCm39) |
A241E |
probably damaging |
Het |
| Rorb |
T |
C |
19: 18,955,070 (GRCm39) |
D182G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,742,624 (GRCm39) |
K485E |
possibly damaging |
Het |
| Sec24d |
G |
A |
3: 123,099,498 (GRCm39) |
D324N |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,642 (GRCm39) |
I168N |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,101,980 (GRCm39) |
*62R |
probably null |
Het |
| Slc22a27 |
A |
C |
19: 7,903,751 (GRCm39) |
S129A |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,939,556 (GRCm39) |
D718G |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,882,779 (GRCm39) |
V408A |
probably benign |
Het |
| Svil |
G |
T |
18: 5,099,650 (GRCm39) |
G1729W |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,681,082 (GRCm39) |
S137P |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,486 (GRCm39) |
D108E |
probably benign |
Het |
| Trem2 |
G |
A |
17: 48,655,599 (GRCm39) |
R52Q |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,699,603 (GRCm39) |
S112P |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,840 (GRCm39) |
M242L |
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,325,636 (GRCm39) |
A85T |
probably benign |
Het |
| Zc3h3 |
T |
C |
15: 75,657,452 (GRCm39) |
T580A |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
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 |
|
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 |
|
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'- CTCAAAGCACGTGGTCTGTG -3'
(R):5'- TCTGGAATAATGGGTGATGTCC -3'
Sequencing Primer
(F):5'- TGGTCTGTGAGCGCCATC -3'
(R):5'- GATGTCCCAGAATCCAAGTATGACTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation