Incidental Mutation 'IGL02440:Itln1'
| ID |
293415 |
| 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 # |
IGL02440
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171345690-171362862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 171359097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 128
(A128T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043094]
[ENSMUST00000168184]
|
| AlphaFold |
O88310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043094
AA Change: A128T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043837
Gene: ENSMUSG00000038209
AA Change: A128T
| 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 benign
Transcript: ENSMUST00000168184
AA Change: A69T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126385
Gene: ENSMUSG00000038209
AA Change: A69T
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
| Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
| Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,383,312 (GRCm39) |
N478K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,139 (GRCm39) |
I328V |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,414 (GRCm39) |
Y153C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
| Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
| Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
| Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,747 (GRCm39) |
S263P |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,364 (GRCm39) |
Y409H |
probably benign |
Het |
| Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,796 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01817:Itln1
|
APN |
1 |
171,356,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation