Incidental Mutation 'R0906:Nuak1'
| ID |
83328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuak1
|
| Ensembl Gene |
ENSMUSG00000020032 |
| Gene Name |
NUAK family, SNF1-like kinase, 1 |
| Synonyms |
B230104P22Rik |
| MMRRC Submission |
039064-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84211144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 315
(V315I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
| AlphaFold |
Q641K5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020220
AA Change: V315I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: V315I
| 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 |
probably benign
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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
A |
1: 130,665,430 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,517,842 (GRCm39) |
H332R |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,141 (GRCm39) |
P47L |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,499,315 (GRCm39) |
M1V |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,275,610 (GRCm39) |
E442G |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,642,308 (GRCm39) |
T660A |
probably damaging |
Het |
| Gm4945 |
A |
C |
17: 47,353,796 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6729 |
T |
C |
10: 86,376,456 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
G |
A |
2: 38,937,655 (GRCm39) |
R204W |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,729 (GRCm39) |
I348T |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,527,160 (GRCm39) |
I212L |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Lgalsl2 |
T |
C |
7: 5,362,828 (GRCm39) |
I153T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,425,403 (GRCm39) |
V1520A |
probably benign |
Het |
| Nup205 |
G |
T |
6: 35,213,827 (GRCm39) |
G1740C |
probably damaging |
Het |
| Or1r1 |
G |
C |
11: 73,874,685 (GRCm39) |
L250V |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,700 (GRCm39) |
|
probably benign |
Het |
| Pik3r6 |
T |
C |
11: 68,426,927 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,292,556 (GRCm39) |
F1336I |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,345,291 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,104,048 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,677,924 (GRCm39) |
M312K |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,227,287 (GRCm39) |
I401T |
probably benign |
Het |
| Slc9a8 |
G |
T |
2: 167,276,787 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,867,206 (GRCm39) |
E1718G |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,179,268 (GRCm39) |
I640N |
probably damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,490 (GRCm39) |
L80P |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,792 (GRCm39) |
P810L |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,614,262 (GRCm39) |
R151C |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,655,666 (GRCm39) |
L626R |
probably damaging |
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 |
|
R1227:Nuak1
|
UTSW |
10 |
84,276,173 (GRCm39) |
missense |
probably benign |
|
|
R1367:Nuak1
|
UTSW |
10 |
84,228,192 (GRCm39) |
splice site |
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'- GCCTCTTGGAACTCAGCTTGGATG -3'
(R):5'- TTTGTGGAAAGTCAACCCCACCC -3'
Sequencing Primer
(F):5'- CCAGACTGGGGAAAGTCGTTC -3'
(R):5'- CAAAGCTCCCACGCAGAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation