Incidental Mutation 'IGL02540:Icosl'
| ID |
297686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Icosl
|
| Ensembl Gene |
ENSMUSG00000000732 |
| Gene Name |
icos ligand |
| Synonyms |
GL50, B7h, GL50-B, ICOS-L, B7RP-1, LICOS, B7-H2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL02540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77904921-77915359 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 77905370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105393]
|
| AlphaFold |
Q9JHJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105393
|
| SMART Domains |
Protein: ENSMUSP00000101032
Gene: ENSMUSG00000000732
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
IG
|
47 |
161 |
4.67e-4 |
SMART |
|
Pfam:C2-set_2
|
165 |
253 |
5.2e-9 |
PFAM |
|
transmembrane domain
|
280 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219633
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit defects in the humoral immune response associated with an impaired interactions between T and B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor2 |
C |
A |
6: 119,336,456 (GRCm39) |
R169L |
probably benign |
Het |
| Arhgap1 |
C |
T |
2: 91,500,584 (GRCm39) |
T371I |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,047,328 (GRCm39) |
P1031S |
probably damaging |
Het |
| Cenpu |
A |
G |
8: 47,031,354 (GRCm39) |
H245R |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,414,309 (GRCm39) |
S18P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,285 (GRCm39) |
T217A |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,805,534 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,731 (GRCm39) |
|
probably null |
Het |
| Fez1 |
A |
G |
9: 36,761,695 (GRCm39) |
R122G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,081,001 (GRCm39) |
M1417K |
probably damaging |
Het |
| Higd1c |
T |
C |
15: 100,263,247 (GRCm39) |
|
probably benign |
Het |
| Il24 |
T |
C |
1: 130,815,040 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,038,161 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,880 (GRCm39) |
L624P |
probably benign |
Het |
| Mov10l1 |
C |
A |
15: 88,902,414 (GRCm39) |
T768K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,386 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,269,259 (GRCm39) |
M81T |
probably benign |
Het |
| Or5aq7 |
A |
T |
2: 86,938,386 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,515,465 (GRCm39) |
F649I |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,083,309 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,550,706 (GRCm39) |
S86L |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,077,750 (GRCm39) |
A605T |
probably benign |
Het |
| Reln |
T |
A |
5: 22,239,750 (GRCm39) |
Q839L |
probably damaging |
Het |
| Rrp9 |
T |
C |
9: 106,360,746 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,200 (GRCm39) |
C178S |
probably benign |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,350 (GRCm39) |
F78L |
probably benign |
Het |
| Zfpm1 |
A |
G |
8: 123,058,859 (GRCm39) |
S160G |
possibly damaging |
Het |
|
| Other mutations in Icosl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Icosl
|
APN |
10 |
77,907,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Icosl
|
UTSW |
10 |
77,911,156 (GRCm39) |
missense |
probably benign |
|
|
R0512:Icosl
|
UTSW |
10 |
77,907,800 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0584:Icosl
|
UTSW |
10 |
77,907,709 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0711:Icosl
|
UTSW |
10 |
77,909,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Icosl
|
UTSW |
10 |
77,907,787 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2006:Icosl
|
UTSW |
10 |
77,907,787 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2189:Icosl
|
UTSW |
10 |
77,909,759 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3417:Icosl
|
UTSW |
10 |
77,907,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4423:Icosl
|
UTSW |
10 |
77,907,707 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5183:Icosl
|
UTSW |
10 |
77,905,319 (GRCm39) |
unclassified |
probably benign |
|
|
R5579:Icosl
|
UTSW |
10 |
77,909,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6388:Icosl
|
UTSW |
10 |
77,905,366 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7336:Icosl
|
UTSW |
10 |
77,909,707 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Icosl
|
UTSW |
10 |
77,909,786 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7921:Icosl
|
UTSW |
10 |
77,909,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8733:Icosl
|
UTSW |
10 |
77,909,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation