Incidental Mutation 'IGL01671:Rhcg'
| ID |
103489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhcg
|
| Ensembl Gene |
ENSMUSG00000030549 |
| Gene Name |
Rhesus blood group-associated C glycoprotein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79243111-79267405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79248299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 435
(I435S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032766]
|
| AlphaFold |
Q9QXP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032766
AA Change: I435S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032766
Gene: ENSMUSG00000030549
AA Change: I435S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ammonium_transp
|
45 |
436 |
1.8e-81 |
PFAM |
|
low complexity region
|
469 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206746
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele have reduced ability to excrete ammonium in their urine and have reduced male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
| Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
| Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
| H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rhcg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Rhcg
|
APN |
7 |
79,248,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01821:Rhcg
|
APN |
7 |
79,248,346 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0591:Rhcg
|
UTSW |
7 |
79,244,520 (GRCm39) |
splice site |
probably benign |
|
|
R0662:Rhcg
|
UTSW |
7 |
79,249,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Rhcg
|
UTSW |
7 |
79,249,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3978:Rhcg
|
UTSW |
7 |
79,267,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4625:Rhcg
|
UTSW |
7 |
79,251,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Rhcg
|
UTSW |
7 |
79,250,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Rhcg
|
UTSW |
7 |
79,250,262 (GRCm39) |
nonsense |
probably null |
|
|
R6414:Rhcg
|
UTSW |
7 |
79,248,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6964:Rhcg
|
UTSW |
7 |
79,250,279 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7089:Rhcg
|
UTSW |
7 |
79,249,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7161:Rhcg
|
UTSW |
7 |
79,267,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Rhcg
|
UTSW |
7 |
79,244,564 (GRCm39) |
nonsense |
probably null |
|
|
R9550:Rhcg
|
UTSW |
7 |
79,248,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rhcg
|
UTSW |
7 |
79,244,579 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation