Incidental Mutation 'IGL02458:Alpk1'
| ID |
294515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 127474968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029662
AA Change: V345A
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: V345A
| 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 null
Transcript: ENSMUST00000159720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198955
AA Change: V345A
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: V345A
| 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 |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,206,844 (GRCm39) |
I37L |
probably benign |
Het |
| Ankrd33 |
T |
C |
15: 101,014,488 (GRCm39) |
F8L |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,852,222 (GRCm39) |
K669R |
probably benign |
Het |
| Bcor |
G |
T |
X: 11,914,749 (GRCm39) |
L1165I |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,871 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,875,896 (GRCm39) |
I958V |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,935,869 (GRCm39) |
K435* |
probably null |
Het |
| Chrna7 |
G |
A |
7: 62,755,842 (GRCm39) |
L235F |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,706,919 (GRCm39) |
V2065L |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,846,020 (GRCm39) |
N183K |
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,079,653 (GRCm39) |
A16V |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,502,542 (GRCm39) |
K769E |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,503,656 (GRCm39) |
V302M |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,927,176 (GRCm39) |
K3871E |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,004,431 (GRCm39) |
V3844A |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,657,487 (GRCm39) |
L763* |
probably null |
Het |
| Donson |
A |
T |
16: 91,478,064 (GRCm39) |
W461R |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,269,418 (GRCm39) |
I664V |
probably benign |
Het |
| Dusp8 |
T |
A |
7: 141,636,484 (GRCm39) |
T369S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,117,422 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,374,545 (GRCm39) |
S532T |
probably benign |
Het |
| Frg2f1 |
G |
A |
4: 119,388,154 (GRCm39) |
T115I |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,735 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
T |
A |
5: 31,316,867 (GRCm39) |
|
probably null |
Het |
| Haghl |
T |
C |
17: 26,002,470 (GRCm39) |
|
probably benign |
Het |
| Hoxc8 |
A |
T |
15: 102,901,181 (GRCm39) |
N208I |
probably damaging |
Het |
| Igf2 |
T |
C |
7: 142,207,785 (GRCm39) |
D115G |
probably benign |
Het |
| Jag2 |
T |
A |
12: 112,879,613 (GRCm39) |
D385V |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,258,888 (GRCm39) |
H54R |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,352,117 (GRCm39) |
S640P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,334,660 (GRCm39) |
V328G |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,686 (GRCm39) |
E388G |
probably damaging |
Het |
| Ms4a13 |
G |
A |
19: 11,149,292 (GRCm39) |
T168I |
probably benign |
Het |
| Mtg1 |
C |
A |
7: 139,730,085 (GRCm39) |
Q294K |
probably benign |
Het |
| Myh3 |
C |
T |
11: 66,987,766 (GRCm39) |
A1413V |
possibly damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,150 (GRCm39) |
|
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,091,749 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
G |
4: 118,726,497 (GRCm39) |
N173S |
possibly damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,073 (GRCm39) |
M109K |
probably benign |
Het |
| Or4a77 |
A |
G |
2: 89,487,692 (GRCm39) |
L31P |
probably damaging |
Het |
| Or5ak20 |
G |
A |
2: 85,184,006 (GRCm39) |
T88I |
probably benign |
Het |
| Or6c210 |
A |
T |
10: 129,496,475 (GRCm39) |
I267F |
probably benign |
Het |
| Parvb |
G |
T |
15: 84,187,635 (GRCm39) |
D248Y |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,315 (GRCm39) |
H586L |
possibly damaging |
Het |
| Phactr2 |
T |
C |
10: 13,137,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,342,171 (GRCm39) |
Q775L |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,443 (GRCm39) |
Y427C |
probably damaging |
Het |
| Rftn2 |
A |
T |
1: 55,250,351 (GRCm39) |
C131* |
probably null |
Het |
| Rigi |
A |
G |
4: 40,229,536 (GRCm39) |
S83P |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,556,402 (GRCm39) |
D474G |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,156,734 (GRCm39) |
E17G |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,720,585 (GRCm39) |
M2688V |
probably benign |
Het |
| Slc22a18 |
C |
A |
7: 143,046,574 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,961,194 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,070,550 (GRCm39) |
V451A |
probably damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,356,667 (GRCm39) |
|
probably benign |
Het |
| Tada1 |
C |
T |
1: 166,220,203 (GRCm39) |
L308F |
probably damaging |
Het |
| Tango2 |
A |
T |
16: 18,128,731 (GRCm39) |
|
probably null |
Het |
| Tbc1d15 |
A |
T |
10: 115,065,111 (GRCm39) |
V158D |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,503,588 (GRCm39) |
|
probably benign |
Het |
| Tpte |
T |
A |
8: 22,795,874 (GRCm39) |
I79K |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,876,199 (GRCm39) |
I40V |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,423 (GRCm39) |
Y102C |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,450,455 (GRCm39) |
S377P |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,600,446 (GRCm39) |
D575G |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,037,649 (GRCm39) |
D704G |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,638,259 (GRCm39) |
S261P |
possibly damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,317,264 (GRCm39) |
V112A |
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 |
|
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 |
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation