Incidental Mutation 'R7173:Alpk1'
| ID |
558405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk1
|
| Ensembl Gene |
ENSMUSG00000028028 |
| Gene Name |
alpha-kinase 1 |
| Synonyms |
8430410J10Rik |
| MMRRC Submission |
045265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 127478024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 74
(Y74*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029662
AA Change: Y254*
|
| SMART Domains |
Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: Y254*
| 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 null
Transcript: ENSMUST00000159720
AA Change: Y74*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198955
AA Change: Y254*
|
| SMART Domains |
Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: Y254*
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
| Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
| Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,621,837 (GRCm39) |
N794I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
| Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
| Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
| Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
| Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
| Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
| Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
| Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
| Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
| Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,504,595 (GRCm39) |
M83K |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
| Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
| Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
| Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
| Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
| Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,553,195 (GRCm39) |
R129H |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,349,633 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
| Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
| Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
| Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
| Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
| Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
| Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,570,592 (GRCm39) |
S1187Y |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
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 |
|
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'- ATAGGACCTACTAGAGCTGCTC -3'
(R):5'- CTCAGTCCTGGTGATGTTCAG -3'
Sequencing Primer
(F):5'- GAGCTGCTCCCATTAATCTAGGAG -3'
(R):5'- CCTGGTGATGTTCAGTCCAAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation