Incidental Mutation 'IGL03285:Igfl3'
| ID |
415698 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igfl3
|
| Ensembl Gene |
ENSMUSG00000066756 |
| Gene Name |
IGF-like family member 3 |
| Synonyms |
Igfl, LOC232925 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
17910419-17915787 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 17914172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000152973]
|
| AlphaFold |
Q6B9Z0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152973
|
| SMART Domains |
Protein: ENSMUSP00000123628
Gene: ENSMUSG00000066756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:IGFL
|
28 |
114 |
2.5e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205962
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Atp7a |
A |
T |
X: 105,153,381 (GRCm39) |
E1094D |
probably benign |
Het |
| Carf |
A |
G |
1: 60,185,313 (GRCm39) |
T453A |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,897,597 (GRCm39) |
N229S |
possibly damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,480 (GRCm39) |
Y176H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,221,535 (GRCm39) |
N1213I |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,892,557 (GRCm39) |
R726H |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,416 (GRCm39) |
H69R |
possibly damaging |
Het |
| Gm1527 |
A |
T |
3: 28,974,566 (GRCm39) |
I460F |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,969,318 (GRCm39) |
I501T |
possibly damaging |
Het |
| Igkv2-109 |
T |
C |
6: 68,279,902 (GRCm39) |
I41T |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,109,510 (GRCm39) |
K236N |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,157 (GRCm39) |
T174S |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 137,996,301 (GRCm39) |
T93A |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,103,431 (GRCm39) |
N1378K |
possibly damaging |
Het |
| Ldlrad2 |
T |
C |
4: 137,300,955 (GRCm39) |
M28V |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Met |
T |
C |
6: 17,553,336 (GRCm39) |
S1041P |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,205 (GRCm39) |
L192P |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,031,096 (GRCm39) |
S1507P |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,368,030 (GRCm39) |
D598G |
possibly damaging |
Het |
| Tdo2 |
A |
G |
3: 81,866,096 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,734 (GRCm39) |
D493G |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,555,011 (GRCm39) |
V395I |
possibly damaging |
Het |
|
| Other mutations in Igfl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Igfl3
|
APN |
7 |
17,914,000 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02215:Igfl3
|
APN |
7 |
17,913,763 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02390:Igfl3
|
APN |
7 |
17,915,659 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Igfl3
|
UTSW |
7 |
17,913,880 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1628:Igfl3
|
UTSW |
7 |
17,914,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1872:Igfl3
|
UTSW |
7 |
17,913,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6490:Igfl3
|
UTSW |
7 |
17,913,844 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6889:Igfl3
|
UTSW |
7 |
17,913,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9606:Igfl3
|
UTSW |
7 |
17,913,920 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2016-08-02 |
Incidental Mutation