Incidental Mutation 'R4331:Nlk'
ID |
323593 |
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 # |
R4331 (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: 95.7%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,111,880 (GRCm39) |
Y301C |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,993,184 (GRCm39) |
D4823N |
probably damaging |
Het |
Angptl2 |
A |
T |
2: 33,118,760 (GRCm39) |
D178V |
probably damaging |
Het |
Capn8 |
A |
T |
1: 182,432,019 (GRCm39) |
D330V |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,389,533 (GRCm39) |
V200A |
probably benign |
Het |
Fcrla |
C |
T |
1: 170,749,245 (GRCm39) |
R96Q |
possibly damaging |
Het |
Lrpprc |
A |
G |
17: 85,047,970 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,874,148 (GRCm39) |
S425T |
probably benign |
Het |
Mthfsl |
A |
G |
9: 88,570,834 (GRCm39) |
V195A |
probably damaging |
Het |
Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
Plxna4 |
G |
A |
6: 32,127,480 (GRCm39) |
Q1876* |
probably null |
Het |
Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,493,122 (GRCm39) |
Y375H |
probably damaging |
Het |
Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
Ssc5d |
G |
A |
7: 4,945,725 (GRCm39) |
G919D |
probably benign |
Het |
Vmn1r60 |
A |
T |
7: 5,547,364 (GRCm39) |
C245* |
probably null |
Het |
Vmn2r103 |
T |
A |
17: 20,014,495 (GRCm39) |
M429K |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
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 |
R4330: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'- GCCTGTCTAGAAGCTAGCTG -3'
Sequencing Primer
(F):5'- AGTTTAATACCTAGCACTTCTAACCC -3'
(R):5'- GTCTAGAAGCTAGCTGTCTTCAAAC -3'
|
Posted On |
2015-06-24 |