Incidental Mutation 'IGL01817:Itln1'
ID |
154416 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itln1
|
Ensembl Gene |
ENSMUSG00000038209 |
Gene Name |
intelectin 1 (galactofuranose binding) |
Synonyms |
Itlna, IntL, mLfR, Itln2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01817
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171345690-171362862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 171356728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 138
(L138F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043094]
[ENSMUST00000168184]
|
AlphaFold |
O88310 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043094
AA Change: L250F
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000043837 Gene: ENSMUSG00000038209 AA Change: L250F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
FBG
|
36 |
211 |
3.77e0 |
SMART |
Blast:FBG
|
230 |
312 |
8e-47 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168184
AA Change: L138F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126385 Gene: ENSMUSG00000038209 AA Change: L138F
Domain | Start | End | E-Value | Type |
Blast:FBG
|
1 |
108 |
2e-60 |
BLAST |
SCOP:d1jc9a_
|
7 |
68 |
5e-5 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted null allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Eif4g3 |
T |
C |
4: 137,847,673 (GRCm39) |
V198A |
probably benign |
Het |
Exoc6b |
T |
C |
6: 85,046,320 (GRCm39) |
E23G |
probably damaging |
Het |
Gm4847 |
C |
A |
1: 166,462,471 (GRCm39) |
D340Y |
probably damaging |
Het |
Gtf3c5 |
T |
C |
2: 28,459,301 (GRCm39) |
|
probably null |
Het |
Ighv1-13 |
G |
A |
12: 114,594,600 (GRCm39) |
|
probably benign |
Het |
Ighv1-43 |
C |
A |
12: 114,909,714 (GRCm39) |
E69D |
probably benign |
Het |
Ighv1-43 |
T |
C |
12: 114,909,715 (GRCm39) |
E69G |
probably benign |
Het |
Nme1nme2 |
G |
T |
11: 93,846,447 (GRCm39) |
|
probably benign |
Het |
Nsun5 |
G |
T |
5: 135,398,893 (GRCm39) |
G19V |
probably damaging |
Het |
Or4a78 |
A |
G |
2: 89,497,348 (GRCm39) |
I294T |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,702 (GRCm39) |
F222L |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
Per1 |
T |
C |
11: 68,995,025 (GRCm39) |
L615P |
probably damaging |
Het |
Pibf1 |
C |
A |
14: 99,423,908 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
T |
A |
9: 105,528,021 (GRCm39) |
I458N |
probably damaging |
Het |
Ppp1r14a |
T |
C |
7: 28,992,622 (GRCm39) |
V108A |
probably benign |
Het |
Scamp2 |
T |
A |
9: 57,488,903 (GRCm39) |
C201* |
probably null |
Het |
Speer1c |
C |
A |
5: 10,295,297 (GRCm39) |
A48S |
probably damaging |
Het |
Stambpl1 |
G |
T |
19: 34,211,393 (GRCm39) |
L151F |
possibly damaging |
Het |
Tent5c |
T |
C |
3: 100,380,171 (GRCm39) |
Y195C |
probably damaging |
Het |
Vmn1r64 |
G |
A |
7: 5,887,222 (GRCm39) |
T107I |
probably damaging |
Het |
|
Other mutations in Itln1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01732:Itln1
|
APN |
1 |
171,362,348 (GRCm39) |
missense |
probably benign |
|
IGL02440:Itln1
|
APN |
1 |
171,359,097 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03204:Itln1
|
APN |
1 |
171,358,172 (GRCm39) |
missense |
probably damaging |
0.99 |
BB003:Itln1
|
UTSW |
1 |
171,359,261 (GRCm39) |
missense |
probably benign |
0.23 |
BB013:Itln1
|
UTSW |
1 |
171,359,261 (GRCm39) |
missense |
probably benign |
0.23 |
R0331:Itln1
|
UTSW |
1 |
171,359,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R0881:Itln1
|
UTSW |
1 |
171,360,949 (GRCm39) |
missense |
probably benign |
|
R0971:Itln1
|
UTSW |
1 |
171,356,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R1168:Itln1
|
UTSW |
1 |
171,359,119 (GRCm39) |
nonsense |
probably null |
|
R2219:Itln1
|
UTSW |
1 |
171,359,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Itln1
|
UTSW |
1 |
171,356,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4230:Itln1
|
UTSW |
1 |
171,362,375 (GRCm39) |
missense |
probably benign |
0.00 |
R4695:Itln1
|
UTSW |
1 |
171,358,645 (GRCm39) |
missense |
probably damaging |
0.98 |
R5011:Itln1
|
UTSW |
1 |
171,360,958 (GRCm39) |
nonsense |
probably null |
|
R5013:Itln1
|
UTSW |
1 |
171,360,958 (GRCm39) |
nonsense |
probably null |
|
R5756:Itln1
|
UTSW |
1 |
171,344,485 (GRCm39) |
unclassified |
probably benign |
|
R5806:Itln1
|
UTSW |
1 |
171,358,720 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6651:Itln1
|
UTSW |
1 |
171,345,940 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6703:Itln1
|
UTSW |
1 |
171,358,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7128:Itln1
|
UTSW |
1 |
171,358,143 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7850:Itln1
|
UTSW |
1 |
171,358,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R7926:Itln1
|
UTSW |
1 |
171,359,261 (GRCm39) |
missense |
probably benign |
0.23 |
R8694:Itln1
|
UTSW |
1 |
171,359,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R9627:Itln1
|
UTSW |
1 |
171,360,985 (GRCm39) |
missense |
probably benign |
0.01 |
X0019:Itln1
|
UTSW |
1 |
171,358,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-02-04 |