Incidental Mutation 'R7940:Alpk3'
| ID |
649001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk3
|
| Ensembl Gene |
ENSMUSG00000038763 |
| Gene Name |
alpha-kinase 3 |
| Synonyms |
Midori |
| MMRRC Submission |
045986-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R7940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80707348-80755360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80743693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1170
(P1170L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107348]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107348
AA Change: P1170L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: P1170L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
IGc2
|
89 |
159 |
2.78e-11 |
SMART |
|
low complexity region
|
183 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
1048 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1087 |
N/A |
INTRINSIC |
|
IG_like
|
1264 |
1330 |
5.73e-2 |
SMART |
|
low complexity region
|
1350 |
1359 |
N/A |
INTRINSIC |
|
Alpha_kinase
|
1395 |
1592 |
1.17e-44 |
SMART |
|
| Meta Mutation Damage Score |
0.1001 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,767 (GRCm39) |
M238T |
probably benign |
Het |
| Acacb |
C |
T |
5: 114,304,108 (GRCm39) |
S177F |
possibly damaging |
Het |
| Afap1l2 |
A |
G |
19: 56,902,597 (GRCm39) |
V822A |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,596 (GRCm39) |
I1234V |
probably damaging |
Het |
| Ascc1 |
G |
A |
10: 59,848,381 (GRCm39) |
V103M |
probably null |
Het |
| Brca2 |
C |
G |
5: 150,462,198 (GRCm39) |
T654S |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,972,899 (GRCm39) |
F410S |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,686,974 (GRCm39) |
N94K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cpe |
T |
A |
8: 65,047,945 (GRCm39) |
S440C |
probably damaging |
Het |
| Cspg4 |
C |
T |
9: 56,795,381 (GRCm39) |
Q1039* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,535,069 (GRCm39) |
S612T |
probably benign |
Het |
| Dapl1 |
T |
C |
2: 59,315,112 (GRCm39) |
|
probably null |
Het |
| Deptor |
C |
T |
15: 55,072,244 (GRCm39) |
T241M |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,454 (GRCm39) |
T181A |
possibly damaging |
Het |
| Dnajc11 |
G |
T |
4: 152,053,045 (GRCm39) |
Q156H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,206,757 (GRCm39) |
V975A |
possibly damaging |
Het |
| Elf3 |
T |
A |
1: 135,184,866 (GRCm39) |
S107C |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,770,324 (GRCm39) |
D105V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,956,344 (GRCm39) |
V1008I |
probably benign |
Het |
| Frmpd2 |
C |
T |
14: 33,276,850 (GRCm39) |
R1157* |
probably null |
Het |
| Gabrg2 |
A |
C |
11: 41,858,474 (GRCm39) |
V218G |
probably benign |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,953 (GRCm39) |
A328V |
probably damaging |
Het |
| Glis1 |
C |
G |
4: 107,489,571 (GRCm39) |
F719L |
probably damaging |
Het |
| Glis1 |
A |
T |
4: 107,489,572 (GRCm39) |
N720Y |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,146,107 (GRCm39) |
A546D |
probably damaging |
Het |
| Gtf3c5 |
G |
A |
2: 28,458,592 (GRCm39) |
T433I |
possibly damaging |
Het |
| Jmjd6 |
C |
A |
11: 116,734,055 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,106,891 (GRCm39) |
S49P |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,006,521 (GRCm39) |
K877* |
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,836,858 (GRCm39) |
S397R |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,262,541 (GRCm39) |
I4420N |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,783,089 (GRCm39) |
K441E |
possibly damaging |
Het |
| Minpp1 |
A |
T |
19: 32,463,359 (GRCm39) |
S7C |
possibly damaging |
Het |
| Mrps9 |
T |
A |
1: 42,901,808 (GRCm39) |
D105E |
probably damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,363,095 (GRCm39) |
A247S |
possibly damaging |
Het |
| Or52b4i |
G |
A |
7: 102,191,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,496 (GRCm39) |
V47A |
probably benign |
Het |
| Pabir1 |
G |
A |
19: 24,454,552 (GRCm39) |
R57W |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,883,026 (GRCm39) |
K790E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,430,022 (GRCm39) |
V1250I |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,409 (GRCm39) |
T43S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,516,480 (GRCm39) |
R549C |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,004 (GRCm39) |
M1056K |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,803,793 (GRCm39) |
N455K |
probably benign |
Het |
| Rhbdf1 |
T |
A |
11: 32,166,258 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,635 (GRCm39) |
V8L |
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,436,666 (GRCm39) |
V249A |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,046 (GRCm39) |
H402L |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,620,620 (GRCm39) |
N393I |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,993 (GRCm39) |
K102E |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,798 (GRCm39) |
Y353C |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,287,741 (GRCm39) |
Q2465L |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,946 (GRCm39) |
M286K |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,291,188 (GRCm39) |
N205K |
possibly damaging |
Het |
| Xkr7 |
C |
A |
2: 152,874,135 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp473 |
T |
G |
7: 44,384,000 (GRCm39) |
E111A |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,631,867 (GRCm39) |
K126E |
probably benign |
Het |
|
| Other mutations in Alpk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Alpk3
|
APN |
7 |
80,727,757 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00472:Alpk3
|
APN |
7 |
80,745,401 (GRCm39) |
splice site |
probably benign |
|
|
IGL01732:Alpk3
|
APN |
7 |
80,707,390 (GRCm39) |
missense |
unknown |
|
|
IGL01750:Alpk3
|
APN |
7 |
80,742,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01812:Alpk3
|
APN |
7 |
80,749,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Alpk3
|
APN |
7 |
80,726,616 (GRCm39) |
splice site |
probably benign |
|
|
IGL02292:Alpk3
|
APN |
7 |
80,727,653 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02340:Alpk3
|
APN |
7 |
80,728,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02517:Alpk3
|
APN |
7 |
80,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02725:Alpk3
|
APN |
7 |
80,743,358 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02755:Alpk3
|
APN |
7 |
80,743,507 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03035:Alpk3
|
APN |
7 |
80,728,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Alpk3
|
APN |
7 |
80,744,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03153:Alpk3
|
APN |
7 |
80,743,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03255:Alpk3
|
APN |
7 |
80,742,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03367:Alpk3
|
APN |
7 |
80,744,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Alpk3
|
UTSW |
7 |
80,727,510 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Alpk3
|
UTSW |
7 |
80,727,510 (GRCm39) |
small insertion |
probably benign |
|
|
IGL03097:Alpk3
|
UTSW |
7 |
80,743,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0092:Alpk3
|
UTSW |
7 |
80,742,301 (GRCm39) |
missense |
probably benign |
|
|
R0254:Alpk3
|
UTSW |
7 |
80,726,722 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0310:Alpk3
|
UTSW |
7 |
80,728,358 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0325:Alpk3
|
UTSW |
7 |
80,717,701 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0387:Alpk3
|
UTSW |
7 |
80,753,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0971:Alpk3
|
UTSW |
7 |
80,742,327 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1078:Alpk3
|
UTSW |
7 |
80,728,348 (GRCm39) |
missense |
probably benign |
|
|
R1146:Alpk3
|
UTSW |
7 |
80,727,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Alpk3
|
UTSW |
7 |
80,727,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1168:Alpk3
|
UTSW |
7 |
80,753,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1306:Alpk3
|
UTSW |
7 |
80,743,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Alpk3
|
UTSW |
7 |
80,726,679 (GRCm39) |
nonsense |
probably null |
|
|
R2173:Alpk3
|
UTSW |
7 |
80,726,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2350:Alpk3
|
UTSW |
7 |
80,744,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2414:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2417:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2885:Alpk3
|
UTSW |
7 |
80,749,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Alpk3
|
UTSW |
7 |
80,753,103 (GRCm39) |
nonsense |
probably null |
|
|
R3796:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3797:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3798:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3799:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3894:Alpk3
|
UTSW |
7 |
80,728,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4395:Alpk3
|
UTSW |
7 |
80,744,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Alpk3
|
UTSW |
7 |
80,753,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5505:Alpk3
|
UTSW |
7 |
80,728,309 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5540:Alpk3
|
UTSW |
7 |
80,745,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Alpk3
|
UTSW |
7 |
80,728,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5941:Alpk3
|
UTSW |
7 |
80,728,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Alpk3
|
UTSW |
7 |
80,742,008 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6036:Alpk3
|
UTSW |
7 |
80,743,005 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6036:Alpk3
|
UTSW |
7 |
80,743,005 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6066:Alpk3
|
UTSW |
7 |
80,726,698 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6517:Alpk3
|
UTSW |
7 |
80,728,327 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6578:Alpk3
|
UTSW |
7 |
80,728,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7230:Alpk3
|
UTSW |
7 |
80,743,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Alpk3
|
UTSW |
7 |
80,742,328 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7271:Alpk3
|
UTSW |
7 |
80,728,202 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7402:Alpk3
|
UTSW |
7 |
80,726,660 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7411:Alpk3
|
UTSW |
7 |
80,742,600 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7454:Alpk3
|
UTSW |
7 |
80,728,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7468:Alpk3
|
UTSW |
7 |
80,750,746 (GRCm39) |
nonsense |
probably null |
|
|
R8157:Alpk3
|
UTSW |
7 |
80,743,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8246:Alpk3
|
UTSW |
7 |
80,742,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8357:Alpk3
|
UTSW |
7 |
80,743,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Alpk3
|
UTSW |
7 |
80,707,468 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8457:Alpk3
|
UTSW |
7 |
80,743,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Alpk3
|
UTSW |
7 |
80,727,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Alpk3
|
UTSW |
7 |
80,727,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8794:Alpk3
|
UTSW |
7 |
80,707,403 (GRCm39) |
missense |
unknown |
|
|
R8982:Alpk3
|
UTSW |
7 |
80,748,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Alpk3
|
UTSW |
7 |
80,743,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Alpk3
|
UTSW |
7 |
80,742,079 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9567:Alpk3
|
UTSW |
7 |
80,742,687 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9792:Alpk3
|
UTSW |
7 |
80,750,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9793:Alpk3
|
UTSW |
7 |
80,750,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9798:Alpk3
|
UTSW |
7 |
80,742,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF034:Alpk3
|
UTSW |
7 |
80,742,162 (GRCm39) |
small deletion |
probably benign |
|
|
RF057:Alpk3
|
UTSW |
7 |
80,742,165 (GRCm39) |
frame shift |
probably null |
|
|
X0022:Alpk3
|
UTSW |
7 |
80,743,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Alpk3
|
UTSW |
7 |
80,728,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCAAGAAGAAGCAATGC -3'
(R):5'- GCACTCACCTTTTAGCAGGTC -3'
Sequencing Primer
(F):5'- CCAGGGGAGGCTTTGACG -3'
(R):5'- TGCTTGGCCAGAGCTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation