Incidental Mutation 'IGL01954:Rhag'
| ID |
181378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhag
|
| Ensembl Gene |
ENSMUSG00000023926 |
| Gene Name |
Rhesus blood group-associated A glycoprotein |
| Synonyms |
Rh50, CD241, Rh50A |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL01954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
41122017-41151645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41139341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 92
(F92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024721]
|
| AlphaFold |
Q9QUT0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024721
AA Change: F92S
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: F92S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ammonium_transp
|
43 |
412 |
1.5e-83 |
PFAM |
|
| 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 is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, a slight increase in iron levels, and decreased transferrin levels in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Bcr |
G |
A |
10: 75,011,173 (GRCm39) |
|
probably null |
Het |
| Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
| Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,253,001 (GRCm39) |
I590N |
probably damaging |
Het |
| Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
| Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,734,355 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 157,005,269 (GRCm39) |
S227P |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,003,686 (GRCm39) |
D324E |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,819,441 (GRCm39) |
N125S |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
| Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
| Zbtb32 |
G |
T |
7: 30,289,353 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rhag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Rhag
|
APN |
17 |
41,122,178 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01463:Rhag
|
APN |
17 |
41,139,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Rhag
|
APN |
17 |
41,139,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0385:Rhag
|
UTSW |
17 |
41,145,618 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0570:Rhag
|
UTSW |
17 |
41,139,804 (GRCm39) |
splice site |
probably benign |
|
|
R0811:Rhag
|
UTSW |
17 |
41,142,469 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0812:Rhag
|
UTSW |
17 |
41,142,469 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1655:Rhag
|
UTSW |
17 |
41,142,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2376:Rhag
|
UTSW |
17 |
41,122,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2698:Rhag
|
UTSW |
17 |
41,147,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4207:Rhag
|
UTSW |
17 |
41,142,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4695:Rhag
|
UTSW |
17 |
41,147,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4705:Rhag
|
UTSW |
17 |
41,147,329 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4729:Rhag
|
UTSW |
17 |
41,139,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Rhag
|
UTSW |
17 |
41,142,181 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4895:Rhag
|
UTSW |
17 |
41,122,242 (GRCm39) |
missense |
probably benign |
|
|
R5224:Rhag
|
UTSW |
17 |
41,139,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5685:Rhag
|
UTSW |
17 |
41,142,222 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7403:Rhag
|
UTSW |
17 |
41,145,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Rhag
|
UTSW |
17 |
41,142,225 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7553:Rhag
|
UTSW |
17 |
41,139,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Rhag
|
UTSW |
17 |
41,142,536 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8056:Rhag
|
UTSW |
17 |
41,139,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Rhag
|
UTSW |
17 |
41,139,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Rhag
|
UTSW |
17 |
41,142,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Rhag
|
UTSW |
17 |
41,142,548 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9777:Rhag
|
UTSW |
17 |
41,139,416 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Rhag
|
UTSW |
17 |
41,144,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-05-07 |
Incidental Mutation