Incidental Mutation 'IGL01963:Gc'
| ID |
182480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gc
|
| Ensembl Gene |
ENSMUSG00000035540 |
| Gene Name |
vitamin D binding protein |
| Synonyms |
DBP, vitamin D binding protein |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
89565381-89605757 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 89569981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049209]
|
| AlphaFold |
P21614 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049209
|
| SMART Domains |
Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
ALBUMIN
|
17 |
202 |
6.82e-68 |
SMART |
|
ALBUMIN
|
208 |
388 |
1.51e-51 |
SMART |
|
Pfam:VitD-bind_III
|
405 |
469 |
7.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200534
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
| Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
| Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
| Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
| Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
| Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
| Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
| Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
| Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
| Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
| Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly damaging |
Het |
|
| Other mutations in Gc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02408:Gc
|
APN |
5 |
89,593,255 (GRCm39) |
missense |
probably benign |
|
|
IGL02815:Gc
|
APN |
5 |
89,605,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1689:Gc
|
UTSW |
5 |
89,589,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2067:Gc
|
UTSW |
5 |
89,594,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Gc
|
UTSW |
5 |
89,586,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Gc
|
UTSW |
5 |
89,583,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4459:Gc
|
UTSW |
5 |
89,589,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4930:Gc
|
UTSW |
5 |
89,587,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5598:Gc
|
UTSW |
5 |
89,586,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5768:Gc
|
UTSW |
5 |
89,589,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Gc
|
UTSW |
5 |
89,589,438 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6748:Gc
|
UTSW |
5 |
89,583,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8376:Gc
|
UTSW |
5 |
89,586,118 (GRCm39) |
nonsense |
probably null |
|
|
R8743:Gc
|
UTSW |
5 |
89,591,311 (GRCm39) |
missense |
probably benign |
|
|
R8984:Gc
|
UTSW |
5 |
89,589,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9102:Gc
|
UTSW |
5 |
89,591,444 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9114:Gc
|
UTSW |
5 |
89,593,165 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9200:Gc
|
UTSW |
5 |
89,593,236 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation