Incidental Mutation 'R7660:Alpk1'
| ID |
591485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
045735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 127474616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 462
(H462Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029662
(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: H462Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: H462Q
| 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 |
probably damaging
Transcript: ENSMUST00000198955
AA Change: H462Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: H462Q
| 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: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (70/70) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,512 (GRCm39) |
H142L |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,689 (GRCm39) |
I64M |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,240,678 (GRCm39) |
E847G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,278 (GRCm39) |
T1276S |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,117,938 (GRCm39) |
|
probably null |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atm |
C |
T |
9: 53,356,807 (GRCm39) |
V2815M |
probably benign |
Het |
| Braf |
T |
C |
6: 39,600,575 (GRCm39) |
I681V |
possibly damaging |
Het |
| Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,874,831 (GRCm39) |
D759G |
probably damaging |
Het |
| Csrp2 |
A |
G |
10: 110,773,624 (GRCm39) |
N103S |
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,719,034 (GRCm39) |
H380L |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,514,334 (GRCm39) |
A888T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,035,309 (GRCm39) |
Q2987L |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,578 (GRCm39) |
T665S |
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,519,231 (GRCm39) |
S343P |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,060,954 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gm3278 |
T |
G |
14: 16,080,387 (GRCm39) |
L66R |
probably damaging |
Het |
| Ifi205 |
A |
G |
1: 173,855,814 (GRCm39) |
V72A |
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,270,798 (GRCm39) |
L708R |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,458,836 (GRCm39) |
L328M |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,401,709 (GRCm39) |
I23T |
probably damaging |
Het |
| Ldha |
C |
T |
7: 46,499,681 (GRCm39) |
P100S |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,085,158 (GRCm39) |
L210H |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,829,816 (GRCm39) |
I600L |
probably benign |
Het |
| Map2 |
C |
A |
1: 66,453,536 (GRCm39) |
P809T |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,874 (GRCm39) |
C577* |
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,092 (GRCm39) |
K439R |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,789,868 (GRCm39) |
G494S |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,495,406 (GRCm39) |
F488L |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,469,248 (GRCm39) |
T8K |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,384,716 (GRCm39) |
T523A |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,911,241 (GRCm39) |
P1334S |
probably benign |
Het |
| Neb |
T |
G |
2: 52,139,451 (GRCm39) |
M119L |
|
Het |
| Nox4 |
T |
C |
7: 87,019,230 (GRCm39) |
Y408H |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,664,690 (GRCm39) |
R510Q |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,787 (GRCm39) |
T177A |
probably benign |
Het |
| Or4f52 |
C |
T |
2: 111,061,960 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,041 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c214 |
C |
A |
10: 129,590,432 (GRCm39) |
E296* |
probably null |
Het |
| Or7g23 |
T |
C |
9: 19,086,804 (GRCm39) |
H56R |
probably benign |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,174 (GRCm39) |
S116T |
possibly damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,326,573 (GRCm39) |
Y263C |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,138,904 (GRCm39) |
Y178N |
probably benign |
Het |
| Pcdhga11 |
C |
T |
18: 37,890,183 (GRCm39) |
T397M |
possibly damaging |
Het |
| Pdlim5 |
G |
T |
3: 141,964,946 (GRCm39) |
H428N |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,619,349 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,883 (GRCm39) |
E68K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,869,995 (GRCm39) |
Q428K |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,995 (GRCm39) |
I32K |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,780,622 (GRCm39) |
T276A |
probably benign |
Het |
| Sgo2b |
G |
A |
8: 64,393,108 (GRCm39) |
H110Y |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,208 (GRCm39) |
L833S |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,229,241 (GRCm39) |
|
probably null |
Het |
| Srfbp1 |
G |
A |
18: 52,608,671 (GRCm39) |
V24I |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,407,458 (GRCm39) |
N537Y |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,087,782 (GRCm39) |
S1766T |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,532,880 (GRCm39) |
M1K |
probably null |
Het |
| Tmem245 |
A |
T |
4: 56,899,170 (GRCm39) |
I661K |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,569 (GRCm39) |
H124R |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 125,547,024 (GRCm39) |
L478Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,646,357 (GRCm39) |
D282G |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,793 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,824,629 (GRCm39) |
D551E |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,767 (GRCm39) |
V128A |
not run |
Het |
| Vmn2r130 |
T |
A |
17: 23,296,006 (GRCm39) |
D725E |
probably damaging |
Het |
| Vmn2r70 |
T |
G |
7: 85,218,130 (GRCm39) |
N56T |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,517,945 (GRCm39) |
V501A |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,772,742 (GRCm39) |
T249A |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,654,501 (GRCm39) |
C332R |
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 |
|
|
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 |
|
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'- GAAGCTGTACTCCTGCTGTCTTG -3'
(R):5'- TGGGCAAGCTCTACACCTTC -3'
Sequencing Primer
(F):5'- GGGAACTCACCCTCTCTAGAGTAG -3'
(R):5'- CAGGACAGAGAAGGCCTGTCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation