Incidental Mutation 'R4056:Rhbg'
| ID |
314234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbg
|
| Ensembl Gene |
ENSMUSG00000104445 |
| Gene Name |
Rhesus blood group-associated B glycoprotein |
| Synonyms |
|
| MMRRC Submission |
041617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4056 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88150181-88162016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88150755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 434
(V434I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171887]
|
| AlphaFold |
Q8BUX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163277
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165196
AA Change: V412I
|
| SMART Domains |
Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: V412I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ammonium_transp
|
1 |
353 |
9.7e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171887
AA Change: V434I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: V434I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
Pfam:Ammonium_transp
|
22 |
419 |
5.9e-74 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
| Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cntfr |
A |
G |
4: 41,658,900 (GRCm39) |
I277T |
probably damaging |
Het |
| Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
| Gvin3 |
G |
T |
7: 106,203,216 (GRCm39) |
D9E |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
| Plekhg3 |
T |
A |
12: 76,612,021 (GRCm39) |
I374N |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
| Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
| Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
| Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
probably damaging |
Het |
|
| Other mutations in Rhbg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0496:Rhbg
|
UTSW |
3 |
88,161,805 (GRCm39) |
missense |
probably benign |
|
|
R0786:Rhbg
|
UTSW |
3 |
88,151,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1397:Rhbg
|
UTSW |
3 |
88,155,753 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1737:Rhbg
|
UTSW |
3 |
88,153,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Rhbg
|
UTSW |
3 |
88,151,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2088:Rhbg
|
UTSW |
3 |
88,154,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Rhbg
|
UTSW |
3 |
88,151,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Rhbg
|
UTSW |
3 |
88,153,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Rhbg
|
UTSW |
3 |
88,154,760 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5032:Rhbg
|
UTSW |
3 |
88,152,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Rhbg
|
UTSW |
3 |
88,152,775 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5331:Rhbg
|
UTSW |
3 |
88,152,775 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5788:Rhbg
|
UTSW |
3 |
88,152,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6293:Rhbg
|
UTSW |
3 |
88,153,133 (GRCm39) |
nonsense |
probably null |
|
|
R6882:Rhbg
|
UTSW |
3 |
88,152,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Rhbg
|
UTSW |
3 |
88,154,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Rhbg
|
UTSW |
3 |
88,155,007 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8024:Rhbg
|
UTSW |
3 |
88,155,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Rhbg
|
UTSW |
3 |
88,152,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGGTCAATGGGGTG -3'
(R):5'- TGCTTCGAGGACCAGGTTTAC -3'
Sequencing Primer
(F):5'- TTCTGGCCACAGCTAATGG -3'
(R):5'- GTTTACTGGGAGGTGAGACAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation