Incidental Mutation 'IGL03207:Nuak1'
| ID |
413180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nuak1
|
| Ensembl Gene |
ENSMUSG00000020032 |
| Gene Name |
NUAK family, SNF1-like kinase, 1 |
| Synonyms |
B230104P22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84275993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 77
(F77V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
| AlphaFold |
Q641K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020220
AA Change: F77V
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: F77V
| 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 |
noncoding transcript
Transcript: ENSMUST00000214135
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
G |
8: 125,286,107 (GRCm39) |
F325S |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,993,042 (GRCm39) |
E166G |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,004,145 (GRCm39) |
I1619T |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,307 (GRCm39) |
D733G |
probably damaging |
Het |
| Capn2 |
T |
G |
1: 182,316,578 (GRCm39) |
T294P |
possibly damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,996 (GRCm39) |
|
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,941,637 (GRCm39) |
L185P |
probably benign |
Het |
| Exoc5 |
G |
A |
14: 49,270,832 (GRCm39) |
P398S |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,208,918 (GRCm39) |
M187V |
probably benign |
Het |
| Lrfn5 |
C |
T |
12: 61,890,112 (GRCm39) |
T467M |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,206,092 (GRCm39) |
|
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,317 (GRCm39) |
W273R |
probably benign |
Het |
| Ppp3cc |
T |
A |
14: 70,485,031 (GRCm39) |
I208F |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,522,389 (GRCm39) |
R407Q |
probably benign |
Het |
| Ror1 |
G |
A |
4: 100,265,142 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
T |
A |
13: 84,442,714 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,039,936 (GRCm39) |
A347E |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation