Incidental Mutation 'IGL02892:Alpk1'
| ID |
363203 |
| 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 # |
IGL02892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127473771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 744
(D744G)
|
| 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: D744G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: D744G
| 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: D744G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: D744G
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,651,771 (GRCm39) |
L493* |
probably null |
Het |
| Adam32 |
T |
A |
8: 25,368,727 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
A |
G |
9: 42,912,268 (GRCm39) |
V530A |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,080 (GRCm39) |
N2095K |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,581,642 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,870,160 (GRCm39) |
|
probably null |
Het |
| Cep350 |
G |
A |
1: 155,744,552 (GRCm39) |
T2089I |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,703,543 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
C |
T |
5: 30,702,051 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,336,970 (GRCm39) |
T280A |
probably benign |
Het |
| Coq5 |
T |
A |
5: 115,432,876 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,192 (GRCm39) |
I339V |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,518 (GRCm39) |
V47A |
possibly damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,585,544 (GRCm39) |
I151T |
probably benign |
Het |
| Defb7 |
T |
A |
8: 19,547,678 (GRCm39) |
F61Y |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,104,066 (GRCm39) |
K773* |
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,158,458 (GRCm39) |
R347H |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,319,277 (GRCm39) |
V234I |
probably benign |
Het |
| Emilin3 |
C |
T |
2: 160,751,069 (GRCm39) |
V180M |
possibly damaging |
Het |
| Fam76b |
A |
T |
9: 13,740,117 (GRCm39) |
E50V |
probably null |
Het |
| Fat3 |
A |
T |
9: 16,288,858 (GRCm39) |
Y222N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Gucy1a2 |
G |
T |
9: 3,634,471 (GRCm39) |
G172C |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,551,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
G |
A |
8: 111,325,591 (GRCm39) |
V4667M |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,745,418 (GRCm39) |
S408G |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,359,821 (GRCm39) |
Q185R |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,494,802 (GRCm39) |
V301A |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,751,399 (GRCm39) |
N220S |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,946,032 (GRCm39) |
M249K |
possibly damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,010,074 (GRCm39) |
D1162V |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,082,037 (GRCm39) |
I229V |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,756,925 (GRCm39) |
L160P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,338,094 (GRCm39) |
Y466C |
probably damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,062,342 (GRCm39) |
D525V |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,412,108 (GRCm39) |
K641R |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,045,425 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,908,680 (GRCm39) |
S502P |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,220 (GRCm39) |
V450A |
probably benign |
Het |
| Prss42 |
G |
A |
9: 110,628,458 (GRCm39) |
V201M |
probably damaging |
Het |
| Pus7 |
A |
T |
5: 23,959,554 (GRCm39) |
N322K |
probably damaging |
Het |
| Riok1 |
G |
T |
13: 38,224,041 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,984,561 (GRCm39) |
T64S |
probably benign |
Het |
| Rmnd5a |
T |
A |
6: 71,391,798 (GRCm39) |
M131L |
probably benign |
Het |
| Rtbdn |
C |
T |
8: 85,681,718 (GRCm39) |
R170C |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,226,030 (GRCm39) |
|
probably null |
Het |
| Slc2a6 |
A |
G |
2: 26,914,305 (GRCm39) |
Y271H |
probably benign |
Het |
| Slc5a5 |
T |
G |
8: 71,345,161 (GRCm39) |
T49P |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,593 (GRCm39) |
V84A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,623,204 (GRCm39) |
T148A |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,178 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,339,660 (GRCm39) |
V266E |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,384,804 (GRCm39) |
I511F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,343,479 (GRCm39) |
D128V |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,120 (GRCm39) |
L423P |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,679 (GRCm39) |
L145P |
probably damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,121 (GRCm39) |
D376E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,144,642 (GRCm39) |
I1484F |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,102,554 (GRCm39) |
V943M |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,822 (GRCm39) |
K301R |
probably damaging |
Het |
| Vmn1r62 |
G |
T |
7: 5,679,202 (GRCm39) |
M294I |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,153,652 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,341,140 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,096,438 (GRCm39) |
W748R |
possibly 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 |
|
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 |
2015-12-18 |
Incidental Mutation