Incidental Mutation 'R8351:Nuak1'
| ID |
660494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuak1
|
| Ensembl Gene |
ENSMUSG00000020032 |
| Gene Name |
NUAK family, SNF1-like kinase, 1 |
| Synonyms |
B230104P22Rik |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84206769-84276461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84229981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 131
(I131V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020220]
|
| AlphaFold |
Q641K5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020220
AA Change: I131V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: I131V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| Agpat3 |
A |
T |
10: 78,110,086 (GRCm39) |
Y288N |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,203,626 (GRCm39) |
K225E |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,356 (GRCm39) |
T1613A |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,725,693 (GRCm39) |
T2139A |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,386,172 (GRCm39) |
|
probably null |
Het |
| Atp23 |
C |
T |
10: 126,723,407 (GRCm39) |
A232T |
probably damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep295 |
G |
A |
9: 15,234,202 (GRCm39) |
T2198I |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,588,694 (GRCm39) |
N1140K |
probably damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,821,294 (GRCm39) |
Y69C |
probably damaging |
Het |
| Ep400 |
C |
T |
5: 110,887,200 (GRCm39) |
A628T |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,932,046 (GRCm39) |
|
probably null |
Het |
| Fpr3 |
T |
C |
17: 18,191,436 (GRCm39) |
S236P |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,822,239 (GRCm39) |
S5991P |
possibly damaging |
Het |
| Gm3099 |
A |
T |
14: 15,345,347 (GRCm39) |
N58Y |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,911,062 (GRCm39) |
H486R |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,673,670 (GRCm39) |
Y2571H |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,837,401 (GRCm39) |
V995M |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,632,328 (GRCm39) |
N157S |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,272,923 (GRCm39) |
S74L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,571,181 (GRCm39) |
V446D |
unknown |
Het |
| Ncapg2 |
T |
C |
12: 116,403,647 (GRCm39) |
V853A |
possibly damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,142,655 (GRCm39) |
S130A |
probably benign |
Het |
| Oas1e |
A |
T |
5: 120,925,008 (GRCm39) |
|
probably null |
Het |
| Or1n2 |
T |
C |
2: 36,797,149 (GRCm39) |
F64L |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,542,128 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
C |
17: 56,413,861 (GRCm39) |
T255A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,117 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,334 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
G |
11: 119,783,465 (GRCm39) |
D1153G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,814,718 (GRCm39) |
F685L |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,146,051 (GRCm39) |
I356T |
probably benign |
Het |
| Slc29a4 |
T |
G |
5: 142,703,584 (GRCm39) |
I286S |
probably benign |
Het |
| Swap70 |
T |
C |
7: 109,821,105 (GRCm39) |
S30P |
possibly damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,234,744 (GRCm39) |
F439S |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,841 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,004,850 (GRCm39) |
R366G |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,638 (GRCm39) |
D699G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,597 (GRCm39) |
R100S |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
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 |
|
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 |
|
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'- GCTATAATGAGTCTACGCGCG -3'
(R):5'- GACCTCAACTGTACAAGATGGG -3'
Sequencing Primer
(F):5'- CTATAATGAGTCTACGCGCGAAGTTG -3'
(R):5'- CCCCTGATATTGAATGCACAGATTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation