Incidental Mutation 'R1227:Nuak1'
| ID |
172415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuak1
|
| Ensembl Gene |
ENSMUSG00000020032 |
| Gene Name |
NUAK family, SNF1-like kinase, 1 |
| Synonyms |
B230104P22Rik |
| MMRRC Submission |
039296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1227 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84276173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 17
(T17S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
| AlphaFold |
Q641K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020220
AA Change: T17S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: T17S
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd42 |
T |
A |
7: 92,254,508 (GRCm39) |
H367L |
possibly damaging |
Het |
| Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,697,447 (GRCm39) |
S635P |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,800,601 (GRCm39) |
S226A |
possibly damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,496,670 (GRCm39) |
|
probably null |
Het |
| Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
| Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
| Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,959,885 (GRCm39) |
W159R |
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 |
|
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'- GGGGAAGACCCCATGTTCTCAAAG -3'
(R):5'- GTCGTCTCAGCAATGCTGCTGC -3'
Sequencing Primer
(F):5'- taaaaaaataaaaaaGGTGGGGTGAG -3'
(R):5'- CGGGGGCGACCTTGAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation