Incidental Mutation 'R6669:Nlk'
| ID |
528066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlk
|
| Ensembl Gene |
ENSMUSG00000017376 |
| Gene Name |
nemo like kinase |
| Synonyms |
|
| MMRRC Submission |
044789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78457994-78588199 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 78477892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 284
(G284*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142739]
|
| AlphaFold |
O54949 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119052
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142739
AA Change: G284*
|
| SMART Domains |
Protein: ENSMUSP00000119345
Gene: ENSMUSG00000017376
AA Change: G284*
| 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
97% (33/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,716,469 (GRCm39) |
I1952V |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,637,788 (GRCm39) |
E142G |
possibly damaging |
Het |
| Bbc3 |
G |
T |
7: 16,047,641 (GRCm39) |
A122S |
possibly damaging |
Het |
| Cenpu |
T |
C |
8: 47,029,319 (GRCm39) |
S191P |
probably damaging |
Het |
| Clic3 |
G |
T |
2: 25,347,779 (GRCm39) |
R48L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,229,767 (GRCm39) |
K1774E |
probably benign |
Het |
| Cnst |
T |
A |
1: 179,432,638 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,549,809 (GRCm39) |
S657T |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,570,572 (GRCm39) |
Y322C |
probably damaging |
Het |
| Epn2 |
C |
T |
11: 61,410,384 (GRCm39) |
V550I |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,535,722 (GRCm39) |
P466S |
possibly damaging |
Het |
| Fancd2 |
C |
T |
6: 113,570,288 (GRCm39) |
T1413I |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,121,847 (GRCm39) |
W400R |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,988 (GRCm39) |
V425A |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,158,966 (GRCm39) |
D564E |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,967,702 (GRCm39) |
I889V |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,171 (GRCm39) |
I1688V |
probably damaging |
Het |
| Mocos |
T |
A |
18: 24,799,467 (GRCm39) |
F234I |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,614,307 (GRCm39) |
T357A |
possibly damaging |
Het |
| Ncoa6 |
T |
G |
2: 155,241,613 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
A |
17: 90,366,991 (GRCm39) |
T12S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,531,221 (GRCm39) |
Y627C |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,276,576 (GRCm39) |
N124S |
probably benign |
Het |
| Pdzd7 |
T |
A |
19: 45,025,190 (GRCm39) |
Q435L |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
G |
A |
1: 185,196,625 (GRCm39) |
R429Q |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,524,213 (GRCm39) |
Y116H |
probably damaging |
Het |
| Trpv5 |
G |
A |
6: 41,634,976 (GRCm39) |
A451V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,926,605 (GRCm39) |
V482A |
probably benign |
Het |
| Vcan |
A |
T |
13: 89,852,850 (GRCm39) |
D703E |
probably benign |
Het |
| Xirp2 |
C |
A |
2: 67,343,699 (GRCm39) |
A1980E |
possibly damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,246,762 (GRCm39) |
V10A |
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 |
|
R4330:Nlk
|
UTSW |
11 |
78,481,774 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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'- AGTCACACCTGCTGAATGGG -3'
(R):5'- CAAACACTGGGCATGGCATG -3'
Sequencing Primer
(F):5'- TGCGCCTGAAACAATATTCTTCGG -3'
(R):5'- GGGCATGGCATGGTGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation