Incidental Mutation 'R1367:Nuak1'
ID |
156082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuak1
|
Ensembl Gene |
ENSMUSG00000020032 |
Gene Name |
NUAK family, SNF1-like kinase, 1 |
Synonyms |
B230104P22Rik |
MMRRC Submission |
039432-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 84228192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
AlphaFold |
Q641K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020220
|
SMART Domains |
Protein: ENSMUSP00000020220 Gene: ENSMUSG00000020032
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
S_TKc
|
56 |
307 |
2.3e-105 |
SMART |
low complexity region
|
475 |
490 |
N/A |
INTRINSIC |
low complexity region
|
559 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000129355
|
SMART Domains |
Protein: ENSMUSP00000122927 Gene: ENSMUSG00000020032
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
15 |
156 |
3.1e-19 |
PFAM |
Pfam:Pkinase
|
19 |
158 |
3.5e-38 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
Validation Efficiency |
98% (48/49) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted disruption of this gene die perinatally displaying omphalocele with a failure in closure of the secondary body wall. No gross morphological defects are detected in brain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
probably benign |
Het |
|
Other mutations in Nuak1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01061:Nuak1
|
APN |
10 |
84,210,998 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Nuak1
|
APN |
10 |
84,210,532 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02967:Nuak1
|
APN |
10 |
84,276,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03207:Nuak1
|
APN |
10 |
84,275,993 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0002:Nuak1
|
UTSW |
10 |
84,211,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Nuak1
|
UTSW |
10 |
84,210,315 (GRCm39) |
missense |
probably benign |
0.02 |
R0749:Nuak1
|
UTSW |
10 |
84,210,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0906:Nuak1
|
UTSW |
10 |
84,211,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R1227:Nuak1
|
UTSW |
10 |
84,276,173 (GRCm39) |
missense |
probably benign |
|
R1778:Nuak1
|
UTSW |
10 |
84,210,738 (GRCm39) |
splice site |
probably null |
|
R2151:Nuak1
|
UTSW |
10 |
84,245,509 (GRCm39) |
missense |
probably benign |
0.00 |
R2877:Nuak1
|
UTSW |
10 |
84,211,209 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3863:Nuak1
|
UTSW |
10 |
84,213,951 (GRCm39) |
splice site |
probably null |
|
R4386:Nuak1
|
UTSW |
10 |
84,229,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Nuak1
|
UTSW |
10 |
84,211,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Nuak1
|
UTSW |
10 |
84,210,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R5118:Nuak1
|
UTSW |
10 |
84,210,848 (GRCm39) |
missense |
probably benign |
0.04 |
R5134:Nuak1
|
UTSW |
10 |
84,210,214 (GRCm39) |
missense |
probably benign |
0.01 |
R5248:Nuak1
|
UTSW |
10 |
84,245,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Nuak1
|
UTSW |
10 |
84,211,119 (GRCm39) |
missense |
probably benign |
|
R5719:Nuak1
|
UTSW |
10 |
84,245,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Nuak1
|
UTSW |
10 |
84,210,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R7067:Nuak1
|
UTSW |
10 |
84,276,158 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7169:Nuak1
|
UTSW |
10 |
84,210,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R7342:Nuak1
|
UTSW |
10 |
84,210,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7549:Nuak1
|
UTSW |
10 |
84,210,403 (GRCm39) |
missense |
probably benign |
0.08 |
R8351:Nuak1
|
UTSW |
10 |
84,229,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R8964:Nuak1
|
UTSW |
10 |
84,210,734 (GRCm39) |
missense |
probably benign |
|
R9007:Nuak1
|
UTSW |
10 |
84,210,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R9143:Nuak1
|
UTSW |
10 |
84,213,951 (GRCm39) |
splice site |
probably null |
|
R9145:Nuak1
|
UTSW |
10 |
84,210,587 (GRCm39) |
missense |
probably benign |
0.00 |
R9311:Nuak1
|
UTSW |
10 |
84,214,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9572:Nuak1
|
UTSW |
10 |
84,228,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGAGAGTCTTTCCCAGAGCCC -3'
(R):5'- AATGCTCTCCTGTCGCTGGTTG -3'
Sequencing Primer
(F):5'- CACCAACCAGCAGAGGGAG -3'
(R):5'- CGTCCTGACAGTGAGAGCAG -3'
|
Posted On |
2014-02-11 |