Incidental Mutation 'IGL02953:Nlk'
| ID |
364997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlk
|
| Ensembl Gene |
ENSMUSG00000017376 |
| Gene Name |
nemo like kinase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78457994-78588199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78517527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 155
(V155A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142739]
|
| AlphaFold |
O54949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142739
AA Change: V155A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119345
Gene: ENSMUSG00000017376
AA Change: V155A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165271
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
| Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
| Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
| Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
| Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
| Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
| Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
| Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
| Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
| Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation