Incidental Mutation 'R4330:Nlk'
| ID |
324571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlk
|
| Ensembl Gene |
ENSMUSG00000017376 |
| Gene Name |
nemo like kinase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78457994-78588199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78481774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 229
(I229T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142739]
|
| AlphaFold |
O54949 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142739
AA Change: I229T
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119345
Gene: ENSMUSG00000017376
AA Change: I229T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
S_TKc
|
138 |
427 |
3.36e-89 |
SMART |
|
| Meta Mutation Damage Score |
0.2646 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation die either during late gestation or around 4-6 weeks, depending on background. Long survivors exhibit growth retardation, neurological abnormalities, and aberrant differentiation of bone marrow stromal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably damaging |
Het |
|
| Other mutations in Nlk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01772:Nlk
|
APN |
11 |
78,480,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Nlk
|
APN |
11 |
78,477,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Nlk
|
APN |
11 |
78,477,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02739:Nlk
|
APN |
11 |
78,465,677 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02953:Nlk
|
APN |
11 |
78,517,527 (GRCm39) |
missense |
probably benign |
0.02 |
|
leagues
|
UTSW |
11 |
78,481,831 (GRCm39) |
splice site |
probably null |
|
|
Verne
|
UTSW |
11 |
78,477,892 (GRCm39) |
nonsense |
probably null |
|
|
R0276:Nlk
|
UTSW |
11 |
78,462,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0324:Nlk
|
UTSW |
11 |
78,463,257 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0636:Nlk
|
UTSW |
11 |
78,586,670 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0639:Nlk
|
UTSW |
11 |
78,463,103 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1776:Nlk
|
UTSW |
11 |
78,477,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1886:Nlk
|
UTSW |
11 |
78,477,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4331:Nlk
|
UTSW |
11 |
78,481,774 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5974:Nlk
|
UTSW |
11 |
78,481,792 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6532:Nlk
|
UTSW |
11 |
78,586,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6669:Nlk
|
UTSW |
11 |
78,477,892 (GRCm39) |
nonsense |
probably null |
|
|
R6873:Nlk
|
UTSW |
11 |
78,481,774 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7165:Nlk
|
UTSW |
11 |
78,481,793 (GRCm39) |
nonsense |
probably null |
|
|
R7475:Nlk
|
UTSW |
11 |
78,474,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Nlk
|
UTSW |
11 |
78,481,831 (GRCm39) |
splice site |
probably null |
|
|
R8950:Nlk
|
UTSW |
11 |
78,586,758 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9665:Nlk
|
UTSW |
11 |
78,481,753 (GRCm39) |
missense |
|
|
|
Z1176:Nlk
|
UTSW |
11 |
78,474,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTAGCATGCTCAAGGATTTG -3'
(R):5'- TTGGCCTGTCTAGAAGCTAGC -3'
Sequencing Primer
(F):5'- AGTTTAATACCTAGCACTTCTAACCC -3'
(R):5'- GTCTAGAAGCTAGCTGTCTTCAAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation