Incidental Mutation 'R4594:Alpk1'
| ID |
344247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
041810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127477203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 285
(A285V)
|
| 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: A285V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: A285V
| 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 |
unknown
Transcript: ENSMUST00000159720
AA Change: A105V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160586
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198955
AA Change: A285V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: A285V
| 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 |
0.1462 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,625,754 (GRCm39) |
T64A |
probably damaging |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,331 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,832,743 (GRCm39) |
I264N |
probably damaging |
Het |
| Auh |
T |
C |
13: 53,067,002 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 28,704,303 (GRCm39) |
F826S |
probably benign |
Het |
| Ccdc54 |
G |
T |
16: 50,410,380 (GRCm39) |
Y295* |
probably null |
Het |
| Ctnna3 |
G |
A |
10: 64,421,858 (GRCm39) |
V551I |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,223,473 (GRCm39) |
C347Y |
probably damaging |
Het |
| Dnajb5 |
A |
G |
4: 42,950,842 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,519,196 (GRCm39) |
I847K |
possibly damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,824,742 (GRCm39) |
F243S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,578 (GRCm39) |
I1712V |
possibly damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,063,852 (GRCm39) |
V793A |
probably damaging |
Het |
| Got2 |
T |
C |
8: 96,598,814 (GRCm39) |
E196G |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 37,991,063 (GRCm39) |
C107Y |
possibly damaging |
Het |
| H2-M5 |
T |
C |
17: 37,298,697 (GRCm39) |
T250A |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,848,026 (GRCm39) |
T151S |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,629 (GRCm39) |
N279D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,569,902 (GRCm39) |
S395T |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,597,147 (GRCm39) |
T226I |
probably benign |
Het |
| Mael |
T |
A |
1: 166,063,056 (GRCm39) |
Q132L |
probably damaging |
Het |
| Mcpt1 |
A |
T |
14: 56,256,109 (GRCm39) |
R49S |
probably benign |
Het |
| Meioc |
G |
T |
11: 102,564,992 (GRCm39) |
G203C |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,883,313 (GRCm39) |
S46P |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mx2 |
C |
A |
16: 97,348,632 (GRCm39) |
Y268* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,407,069 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Nek11 |
A |
G |
9: 105,270,046 (GRCm39) |
|
probably null |
Het |
| Nfe2 |
A |
G |
15: 103,157,232 (GRCm39) |
L253S |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,173,424 (GRCm39) |
I478T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,782 (GRCm39) |
D529G |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,722,267 (GRCm39) |
S88P |
possibly damaging |
Het |
| Or11g25 |
A |
G |
14: 50,723,619 (GRCm39) |
R235G |
probably benign |
Het |
| Or2p2 |
C |
T |
13: 21,256,692 (GRCm39) |
V260I |
probably benign |
Het |
| Or4n4 |
G |
A |
14: 50,519,140 (GRCm39) |
T190I |
probably benign |
Het |
| Or51k1 |
T |
C |
7: 103,661,624 (GRCm39) |
D95G |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,718,797 (GRCm39) |
V41A |
probably benign |
Het |
| Or6k6 |
G |
T |
1: 173,944,886 (GRCm39) |
T232N |
probably damaging |
Het |
| Or8b1 |
A |
C |
9: 38,400,057 (GRCm39) |
H244P |
probably damaging |
Het |
| Osgin1 |
C |
T |
8: 120,171,992 (GRCm39) |
T262I |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,844,519 (GRCm39) |
M146L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,585,830 (GRCm39) |
E2456V |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,078,045 (GRCm39) |
A1004V |
probably damaging |
Het |
| Rab15 |
G |
A |
12: 76,847,445 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,881 (GRCm39) |
V601A |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,698,626 (GRCm39) |
I12F |
possibly damaging |
Het |
| Rdh14 |
T |
A |
12: 10,444,567 (GRCm39) |
N139K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,391,717 (GRCm39) |
V46E |
probably damaging |
Het |
| Rskr |
T |
A |
11: 78,182,473 (GRCm39) |
V94D |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,186,772 (GRCm39) |
L68H |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,325,894 (GRCm39) |
I206T |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,005 (GRCm39) |
V995E |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,301 (GRCm39) |
I637S |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,231 (GRCm39) |
F773L |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,924 (GRCm39) |
D548V |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,620 (GRCm39) |
N1590D |
probably benign |
Het |
| Zbtb6 |
A |
T |
2: 37,319,054 (GRCm39) |
N291K |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,325 (GRCm39) |
R173C |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,008 (GRCm39) |
L335P |
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 |
|
|
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'- GGCGTCAGGATATGGTCATTC -3'
(R):5'- AGGTTTTCTTGGCACTGTCC -3'
Sequencing Primer
(F):5'- GGTCATTCTAACTAATAGTACCCCC -3'
(R):5'- GCACTGTCCTGGTAGGTTCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation