Incidental Mutation 'R6414:Alpk1'
| ID |
514846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
044556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6414 (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 127473858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 715
(D715G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143223
(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: D715G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: D715G
| 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 |
probably benign
Transcript: ENSMUST00000198955
AA Change: D715G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: D715G
| 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: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
| Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
| Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
| Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
| Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
| Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
| Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
| Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
| Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
| Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
| Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
| Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
| Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
| Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
| Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
| Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
| Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
| Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
| Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
| Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
| Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
| Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
| Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
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 |
|
|
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 |
|
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'- GGGTGATAGTCCATCGTCTG -3'
(R):5'- AAAGCTCCGTGGTGTCTCTC -3'
Sequencing Primer
(F):5'- TTCTGGGTCGACCGAAGAG -3'
(R):5'- GGAGATGACAACTTAGAGTCTTCACC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation