Incidental Mutation 'IGL00731:Igll1'
ID |
11424 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Igll1
|
Ensembl Gene |
ENSMUSG00000075370 |
Gene Name |
immunoglobulin lambda-like polypeptide 1 |
Synonyms |
Igll, Lambda 5, Igl-5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL00731
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
16678535-16681849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16678783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 176
(T176A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100136]
[ENSMUST00000124890]
|
AlphaFold |
P20764 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100136
AA Change: T176A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000097713 Gene: ENSMUSG00000075370 AA Change: T176A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
IGc1
|
126 |
200 |
2.17e-31 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124649
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124890
AA Change: T152A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000122045 Gene: ENSMUSG00000075370 AA Change: T152A
Domain | Start | End | E-Value | Type |
IGc1
|
102 |
176 |
2.17e-31 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231439
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spleen hypoplasia, a leaky blockade of B cell development at the pre-B stage, and decreased IgG levels in response to a T-cell dependent antigen. [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 |
Aars1 |
A |
G |
8: 111,771,501 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,400,183 (GRCm39) |
F1531L |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,465,191 (GRCm39) |
S463P |
possibly damaging |
Het |
Ehf |
C |
T |
2: 103,097,185 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
G |
T |
2: 90,598,987 (GRCm39) |
V704L |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,252,189 (GRCm39) |
S591P |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,192,957 (GRCm39) |
L498P |
probably damaging |
Het |
Klk1b21 |
A |
G |
7: 43,755,347 (GRCm39) |
E182G |
possibly damaging |
Het |
Npat |
G |
A |
9: 53,473,386 (GRCm39) |
E393K |
probably damaging |
Het |
Npnt |
C |
T |
3: 132,610,418 (GRCm39) |
|
probably null |
Het |
Pde2a |
A |
G |
7: 101,157,306 (GRCm39) |
Y693C |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,749,237 (GRCm39) |
S1269P |
possibly damaging |
Het |
Rasal2 |
A |
C |
1: 156,985,334 (GRCm39) |
D804E |
probably benign |
Het |
Rdh10 |
A |
G |
1: 16,178,099 (GRCm39) |
N124D |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,512,981 (GRCm39) |
D536Y |
probably damaging |
Het |
Snx24 |
C |
T |
18: 53,517,681 (GRCm39) |
|
probably benign |
Het |
Spink12 |
G |
A |
18: 44,241,177 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Igll1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03060:Igll1
|
APN |
16 |
16,680,291 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4445001:Igll1
|
UTSW |
16 |
16,678,783 (GRCm39) |
missense |
probably benign |
0.04 |
R0058:Igll1
|
UTSW |
16 |
16,681,740 (GRCm39) |
missense |
probably benign |
0.02 |
R0058:Igll1
|
UTSW |
16 |
16,681,740 (GRCm39) |
missense |
probably benign |
0.02 |
R2014:Igll1
|
UTSW |
16 |
16,681,639 (GRCm39) |
missense |
probably benign |
|
R2015:Igll1
|
UTSW |
16 |
16,681,639 (GRCm39) |
missense |
probably benign |
|
R4242:Igll1
|
UTSW |
16 |
16,681,564 (GRCm39) |
missense |
probably benign |
0.15 |
R5024:Igll1
|
UTSW |
16 |
16,681,657 (GRCm39) |
missense |
probably benign |
0.05 |
R5453:Igll1
|
UTSW |
16 |
16,681,558 (GRCm39) |
splice site |
probably null |
|
R5855:Igll1
|
UTSW |
16 |
16,678,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Igll1
|
UTSW |
16 |
16,681,805 (GRCm39) |
start gained |
probably benign |
|
R6946:Igll1
|
UTSW |
16 |
16,678,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Igll1
|
UTSW |
16 |
16,678,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R8904:Igll1
|
UTSW |
16 |
16,681,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |