Incidental Mutation 'R0749:Nuak1'
| ID |
70257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuak1
|
| Ensembl Gene |
ENSMUSG00000020032 |
| Gene Name |
NUAK family, SNF1-like kinase, 1 |
| Synonyms |
B230104P22Rik |
| MMRRC Submission |
038929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84210648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 480
(Y480C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
| AlphaFold |
Q641K5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020220
AA Change: Y480C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: Y480C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,568 (GRCm39) |
*418W |
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
| Fdxr |
A |
G |
11: 115,167,671 (GRCm39) |
S15P |
probably benign |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
| Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
| Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
| Oma1 |
C |
T |
4: 103,182,496 (GRCm39) |
Q300* |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,135,914 (GRCm39) |
C390* |
probably null |
Het |
| Sars1 |
A |
C |
3: 108,335,582 (GRCm39) |
F389V |
possibly damaging |
Het |
| Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGCCACCATCTGAGTACCTG -3'
(R):5'- AAGCTGAGTTCCAAGAGGCCCAAG -3'
Sequencing Primer
(F):5'- ACCATCTGAGTACCTGCTACTATG -3'
(R):5'- CAGCACTGGCTTTATCGAAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation