Incidental Mutation 'R1859:Alpk1'
ID |
204195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk1
|
Ensembl Gene |
ENSMUSG00000028028 |
Gene Name |
alpha-kinase 1 |
Synonyms |
8430410J10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1859 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127474749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 418
(H418L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029662
AA Change: H418L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029662 Gene: ENSMUSG00000028028 AA Change: H418L
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 |
noncoding transcript
Transcript: ENSMUST00000160586
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198955
AA Change: H418L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143223 Gene: ENSMUSG00000028028 AA Change: H418L
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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,637,268 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,349,530 (GRCm39) |
E467G |
probably damaging |
Het |
Alkbh8 |
A |
G |
9: 3,385,499 (GRCm39) |
D597G |
probably benign |
Het |
Ano5 |
G |
T |
7: 51,196,581 (GRCm39) |
V138L |
probably damaging |
Het |
Aspg |
T |
A |
12: 112,087,606 (GRCm39) |
I319K |
possibly damaging |
Het |
Atp9b |
T |
C |
18: 80,793,135 (GRCm39) |
T970A |
possibly damaging |
Het |
Brd10 |
A |
C |
19: 29,732,323 (GRCm39) |
C230G |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,954,527 (GRCm39) |
M881L |
probably benign |
Het |
Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
Cdca5 |
T |
C |
19: 6,140,124 (GRCm39) |
V95A |
possibly damaging |
Het |
Cds2 |
A |
G |
2: 132,144,115 (GRCm39) |
Y297C |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,303,946 (GRCm39) |
G2371S |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,825,341 (GRCm39) |
V1213A |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,464,980 (GRCm39) |
I1557N |
probably benign |
Het |
Cntn5 |
C |
T |
9: 9,972,839 (GRCm39) |
E266K |
probably damaging |
Het |
Crtam |
G |
A |
9: 40,884,900 (GRCm39) |
T363M |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,328,712 (GRCm39) |
S3298P |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,009,226 (GRCm39) |
Y209N |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,281,333 (GRCm39) |
D561G |
possibly damaging |
Het |
Drosha |
A |
G |
15: 12,878,804 (GRCm39) |
K710R |
probably benign |
Het |
Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,248,735 (GRCm39) |
S429P |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,069,306 (GRCm39) |
V521E |
probably damaging |
Het |
Fbxl7 |
A |
T |
15: 26,543,279 (GRCm39) |
L456Q |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
Foxc2 |
G |
T |
8: 121,843,364 (GRCm39) |
R4L |
probably damaging |
Het |
Glyctk |
C |
T |
9: 106,034,731 (GRCm39) |
V112I |
probably benign |
Het |
Guf1 |
G |
T |
5: 69,725,803 (GRCm39) |
G481* |
probably null |
Het |
Heatr1 |
T |
C |
13: 12,418,040 (GRCm39) |
L324S |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,853,350 (GRCm39) |
L57P |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,944 (GRCm39) |
C3080S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifit1 |
T |
A |
19: 34,624,944 (GRCm39) |
F27I |
probably benign |
Het |
Ift20 |
G |
T |
11: 78,430,860 (GRCm39) |
E68* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,686,042 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,553,006 (GRCm39) |
L38Q |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,907,078 (GRCm39) |
M2361K |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map3k9 |
A |
T |
12: 81,771,256 (GRCm39) |
S800R |
possibly damaging |
Het |
Mef2a |
A |
G |
7: 66,915,766 (GRCm39) |
S179P |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,007,145 (GRCm39) |
|
probably benign |
Het |
Mpg |
A |
G |
11: 32,181,957 (GRCm39) |
|
probably null |
Het |
Mpp7 |
A |
T |
18: 7,350,967 (GRCm39) |
*577K |
probably null |
Het |
Msh4 |
G |
T |
3: 153,611,517 (GRCm39) |
H35Q |
probably benign |
Het |
Mst1 |
G |
A |
9: 107,961,545 (GRCm39) |
V601I |
probably benign |
Het |
Myh10 |
T |
A |
11: 68,636,239 (GRCm39) |
N246K |
probably benign |
Het |
Myom3 |
C |
A |
4: 135,506,707 (GRCm39) |
N493K |
probably benign |
Het |
Mypn |
T |
C |
10: 62,981,969 (GRCm39) |
D537G |
probably benign |
Het |
Ncan |
A |
T |
8: 70,567,998 (GRCm39) |
M38K |
possibly damaging |
Het |
Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
Nos1 |
A |
T |
5: 118,043,527 (GRCm39) |
N601Y |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,538,825 (GRCm39) |
V794I |
probably benign |
Het |
Or10q12 |
T |
A |
19: 13,746,088 (GRCm39) |
Y127* |
probably null |
Het |
Or13a17 |
T |
A |
7: 140,271,571 (GRCm39) |
V251E |
possibly damaging |
Het |
Or13c7b |
A |
T |
4: 43,820,779 (GRCm39) |
I194N |
possibly damaging |
Het |
Or2y17 |
T |
C |
11: 49,232,211 (GRCm39) |
L284P |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,425 (GRCm39) |
I126V |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,886,372 (GRCm39) |
V1817A |
unknown |
Het |
Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,011 (GRCm39) |
N253S |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,808,263 (GRCm39) |
I42V |
probably benign |
Het |
Prom2 |
T |
G |
2: 127,383,017 (GRCm39) |
Q75P |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,217,938 (GRCm39) |
D669G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,474,407 (GRCm39) |
D245G |
probably benign |
Het |
Rpl22l1 |
T |
A |
3: 28,860,747 (GRCm39) |
|
probably null |
Het |
Sars2 |
T |
C |
7: 28,443,737 (GRCm39) |
V113A |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 79,894,473 (GRCm39) |
K1067* |
probably null |
Het |
Sec61g |
A |
G |
11: 16,456,371 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
A |
T |
2: 130,529,932 (GRCm39) |
M282K |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
Sparc |
A |
T |
11: 55,297,334 (GRCm39) |
|
probably null |
Het |
Thra |
T |
A |
11: 98,646,977 (GRCm39) |
C33S |
probably damaging |
Het |
Trrap |
A |
T |
5: 144,767,761 (GRCm39) |
T2293S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,724,989 (GRCm39) |
|
probably benign |
Het |
Vat1l |
T |
A |
8: 114,998,041 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,549 (GRCm39) |
I184F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,825,940 (GRCm39) |
I1192T |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,446 (GRCm39) |
S737P |
possibly damaging |
Het |
Zfp553 |
A |
G |
7: 126,834,517 (GRCm39) |
E24G |
probably benign |
Het |
Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TACAGACCTCCGATTTTGTGTC -3'
(R):5'- CATCAAAGCTGCTTTCGGCC -3'
Sequencing Primer
(F):5'- GCGTTTGCTGTTCCCACAAG -3'
(R):5'- TTTCGGCCTCACCACGGTG -3'
|
Posted On |
2014-06-23 |