Incidental Mutation 'IGL01107:Fcgrt'
| ID |
51552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcgrt
|
| Ensembl Gene |
ENSMUSG00000003420 |
| Gene Name |
Fc fragment of IgG receptor and transporter |
| Synonyms |
FcRn, neonatal Fc receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44742417-44753246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44742752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003512]
[ENSMUST00000019683]
[ENSMUST00000209761]
[ENSMUST00000210469]
[ENSMUST00000210527]
[ENSMUST00000210642]
[ENSMUST00000210734]
[ENSMUST00000211352]
|
| AlphaFold |
Q61559 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003512
AA Change: D339G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420
AA Change: D339G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
24 |
197 |
1.2e-59 |
PFAM |
|
IGc1
|
216 |
285 |
2.42e-11 |
SMART |
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019683
|
| SMART Domains |
Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Blast:EFh
|
79 |
109 |
9e-9 |
BLAST |
|
EFh
|
117 |
145 |
1.23e1 |
SMART |
|
Blast:EFh
|
167 |
195 |
1e-7 |
BLAST |
|
EFh
|
204 |
232 |
1.62e0 |
SMART |
|
Blast:EFh
|
244 |
272 |
7e-6 |
BLAST |
|
EFh
|
281 |
309 |
1.64e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210527
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210642
AA Change: D343G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211352
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective perinatal transport of maternal IgG, increased clearance of IgG, and diminished IgG antibody response after immunization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Fcgrt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02024:Fcgrt
|
APN |
7 |
44,744,682 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0355:Fcgrt
|
UTSW |
7 |
44,752,493 (GRCm39) |
start codon destroyed |
unknown |
|
|
R0408:Fcgrt
|
UTSW |
7 |
44,751,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Fcgrt
|
UTSW |
7 |
44,751,372 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6156:Fcgrt
|
UTSW |
7 |
44,751,484 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6190:Fcgrt
|
UTSW |
7 |
44,751,622 (GRCm39) |
splice site |
probably null |
|
|
R7001:Fcgrt
|
UTSW |
7 |
44,751,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7177:Fcgrt
|
UTSW |
7 |
44,751,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7605:Fcgrt
|
UTSW |
7 |
44,744,675 (GRCm39) |
nonsense |
probably null |
|
|
R7729:Fcgrt
|
UTSW |
7 |
44,744,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8201:Fcgrt
|
UTSW |
7 |
44,744,634 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8377:Fcgrt
|
UTSW |
7 |
44,751,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Fcgrt
|
UTSW |
7 |
44,744,853 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9718:Fcgrt
|
UTSW |
7 |
44,744,853 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9745:Fcgrt
|
UTSW |
7 |
44,742,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation