Incidental Mutation 'R8907:Alpk1'
| ID |
678428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
068763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 127474642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 454
(Q454*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029662
AA Change: Q454*
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: Q454*
| 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 null
Transcript: ENSMUST00000198955
AA Change: Q454*
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: Q454*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,398 (GRCm39) |
I73V |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,679,629 (GRCm39) |
I109T |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,986,452 (GRCm39) |
V2579M |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,260,444 (GRCm39) |
S220P |
probably benign |
Het |
| Akap13 |
C |
G |
7: 75,260,456 (GRCm39) |
P224A |
probably damaging |
Het |
| Asrgl1 |
C |
T |
19: 9,090,506 (GRCm39) |
G280D |
probably damaging |
Het |
| Atp6v0d1 |
TTCTTACCTC |
T |
8: 106,251,782 (GRCm39) |
|
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,099,425 (GRCm39) |
D204V |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,628,100 (GRCm39) |
Y177H |
probably damaging |
Het |
| Bcl2l14 |
G |
A |
6: 134,400,585 (GRCm39) |
C2Y |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,002,295 (GRCm39) |
Y1413* |
probably null |
Het |
| Bphl |
A |
T |
13: 34,230,930 (GRCm39) |
M125L |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,521 (GRCm39) |
N707I |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,444 (GRCm39) |
D340V |
possibly damaging |
Het |
| Cklf |
G |
A |
8: 104,977,671 (GRCm39) |
V8I |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,310,711 (GRCm39) |
N126S |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,456,106 (GRCm39) |
M327K |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,644,528 (GRCm39) |
F1253L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,685,395 (GRCm39) |
S1169N |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,790,967 (GRCm39) |
D72V |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,905,873 (GRCm39) |
P840L |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,826,274 (GRCm39) |
Y105H |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,422 (GRCm39) |
S196A |
probably damaging |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Fcamr |
G |
T |
1: 130,740,328 (GRCm39) |
G249V |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,681,451 (GRCm39) |
T124I |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,355,914 (GRCm39) |
L883R |
unknown |
Het |
| Frmd4b |
T |
C |
6: 97,273,046 (GRCm39) |
N782S |
probably damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,248,380 (GRCm39) |
C621W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,984 (GRCm39) |
V4239D |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,844 (GRCm39) |
Y380C |
probably damaging |
Het |
| Gm7298 |
T |
C |
6: 121,741,817 (GRCm39) |
V413A |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,145 (GRCm39) |
V93M |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,874,920 (GRCm39) |
M1858K |
possibly damaging |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,353 (GRCm39) |
K38M |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,680,283 (GRCm39) |
K124R |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,514,609 (GRCm39) |
F3078Y |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,058,770 (GRCm39) |
P988L |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,953,077 (GRCm39) |
E453K |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,417,434 (GRCm39) |
I3461N |
|
Het |
| Ngef |
G |
A |
1: 87,405,376 (GRCm39) |
S678F |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,157 (GRCm39) |
S418T |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,421,995 (GRCm39) |
D257G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,542 (GRCm39) |
V76D |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,302,451 (GRCm39) |
T1220A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,785 (GRCm39) |
I3508V |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,647,570 (GRCm39) |
S258T |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,159,135 (GRCm39) |
Y830H |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,051,732 (GRCm39) |
H1001L |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,826,807 (GRCm39) |
F37L |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,070,278 (GRCm39) |
I1148F |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,621 (GRCm39) |
K162E |
unknown |
Het |
| Serpinb13 |
A |
T |
1: 106,928,519 (GRCm39) |
I380F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,634,186 (GRCm39) |
D2175G |
probably benign |
Het |
| St3gal6 |
T |
C |
16: 58,314,095 (GRCm39) |
I13V |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,967,996 (GRCm39) |
L48H |
probably damaging |
Het |
| Tmem121b |
T |
A |
6: 120,469,707 (GRCm39) |
I337F |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,275,182 (GRCm39) |
D225G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,959,664 (GRCm39) |
V674A |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,963,563 (GRCm39) |
L553P |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,755,798 (GRCm39) |
V189A |
probably damaging |
Het |
| Vmn1r19 |
G |
T |
6: 57,381,991 (GRCm39) |
M181I |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,149,791 (GRCm39) |
T418A |
probably benign |
Het |
| Zfp617 |
A |
G |
8: 72,686,927 (GRCm39) |
Y419C |
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 |
|
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 |
|
|
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'- AAGCTGTACTCCTGCTGTCTTG -3'
(R):5'- GGCAAGCTCTACACCTTCAG -3'
Sequencing Primer
(F):5'- GGGAACTCACCCTCTCTAGAGTAG -3'
(R):5'- AAGCTCTACACCTTCAGCACTTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation