Incidental Mutation 'IGL01748:Iglon5'
| ID |
153079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iglon5
|
| Ensembl Gene |
ENSMUSG00000013367 |
| Gene Name |
IgLON family member 5 |
| Synonyms |
A230106M20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43122328-43139499 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 43125953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107974]
[ENSMUST00000107977]
|
| AlphaFold |
Q8HW98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107974
|
| SMART Domains |
Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
1.7e-6 |
SMART |
|
IGc2
|
145 |
202 |
4.45e-10 |
SMART |
|
IGc2
|
229 |
298 |
1.69e-10 |
SMART |
|
low complexity region
|
323 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107977
|
| SMART Domains |
Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
IG
|
183 |
285 |
1.92e0 |
SMART |
|
IG
|
298 |
383 |
2.15e-3 |
SMART |
|
IGc2
|
406 |
465 |
4.19e-6 |
SMART |
|
Blast:IG_like
|
582 |
649 |
1e-13 |
BLAST |
|
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
| Asb1 |
G |
A |
1: 91,480,008 (GRCm39) |
V236I |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
T |
A |
5: 25,452,513 (GRCm39) |
Y8* |
probably null |
Het |
| Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
| Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
| Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
| Nbl1 |
G |
T |
4: 138,810,921 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
| Rfng |
A |
G |
11: 120,674,569 (GRCm39) |
M104T |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
| Strn4 |
C |
T |
7: 16,572,227 (GRCm39) |
P647S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
| Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
| Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably damaging |
Het |
|
| Other mutations in Iglon5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02373:Iglon5
|
APN |
7 |
43,128,643 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0219:Iglon5
|
UTSW |
7 |
43,126,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Iglon5
|
UTSW |
7 |
43,126,064 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1503:Iglon5
|
UTSW |
7 |
43,128,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1827:Iglon5
|
UTSW |
7 |
43,128,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2233:Iglon5
|
UTSW |
7 |
43,130,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2234:Iglon5
|
UTSW |
7 |
43,130,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2235:Iglon5
|
UTSW |
7 |
43,130,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3772:Iglon5
|
UTSW |
7 |
43,130,037 (GRCm39) |
nonsense |
probably null |
|
|
R6388:Iglon5
|
UTSW |
7 |
43,127,556 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7000:Iglon5
|
UTSW |
7 |
43,126,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7015:Iglon5
|
UTSW |
7 |
43,126,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7020:Iglon5
|
UTSW |
7 |
43,126,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Iglon5
|
UTSW |
7 |
43,126,064 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7960:Iglon5
|
UTSW |
7 |
43,126,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8942:Iglon5
|
UTSW |
7 |
43,126,315 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9153:Iglon5
|
UTSW |
7 |
43,125,421 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9546:Iglon5
|
UTSW |
7 |
43,123,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation