Mutagenetix > Incidental Mutation

Incidental Mutation 'R1397:Rhbg'

160177

Institutional Source

Beutler Lab

Gene Symbol

Rhbg

Ensembl Gene

ENSMUSG00000104445

Gene Name

Rhesus blood group-associated B glycoprotein

Synonyms

MMRRC Submission

039459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88242874-88254709 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88248446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 66 (V66I)

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: V44I

SMART Domains

Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: V44I

Domain	Start	End	E-Value	Type
Pfam:Ammonium_transp	1	353	9.7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171887
AA Change: V66I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: V66I

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

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

98% (59/60)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,285,759	E1222G	probably benign	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ankmy2	T	C	12: 36,170,441		probably benign	Het
Arhgef10l	C	T	4: 140,544,443	G827D	probably damaging	Het
Chrac1	A	G	15: 73,090,444	D3G	possibly damaging	Het
Dmrtb1	G	C	4: 107,677,039	P349R	probably damaging	Het
Drd1	A	G	13: 54,053,554	Y207H	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Epb41l3	T	A	17: 69,262,348		probably null	Het
Fam13b	C	T	18: 34,445,583	M705I	probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Iqgap2	A	G	13: 95,632,165	I1409T	probably benign	Het
Itih1	C	T	14: 30,929,905		probably benign	Het
Itih5	A	T	2: 10,240,807	D569V	probably benign	Het
Krt9	A	T	11: 100,192,638	L189Q	probably damaging	Het
Mfsd11	T	C	11: 116,873,297	F368S	probably damaging	Het
Neb	C	A	2: 52,243,943	V3343F	probably damaging	Het
Nfe2l3	T	C	6: 51,433,294	S130P	probably benign	Het
Nid1	G	A	13: 13,508,795	A1153T	possibly damaging	Het
Nr2c2	T	C	6: 92,149,764	I78T	probably benign	Het
Nrp1	T	G	8: 128,418,716	Y84*	probably null	Het
Pate2	T	A	9: 35,669,695	F2I	probably damaging	Het
Pign	A	G	1: 105,657,771	S18P	probably damaging	Het
Pla2r1	T	A	2: 60,534,762	T155S	probably benign	Het
Rabl3	C	T	16: 37,539,974		probably benign	Het
Rimkla	C	T	4: 119,468,111	G367E	probably benign	Het
Rnpepl1	C	A	1: 92,917,159	T391N	probably damaging	Het
Rnps1	C	T	17: 24,412,057		probably benign	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Slc25a48	A	C	13: 56,465,051	D254A	probably damaging	Het
Slc28a2	T	A	2: 122,460,531	C659*	probably null	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spata31d1a	C	T	13: 59,705,039		probably benign	Het
Srrm1	A	C	4: 135,321,431		probably benign	Het
Srrt	A	G	5: 137,300,261	V247A	possibly damaging	Het
Tnks2	T	C	19: 36,880,501		probably benign	Het
Trim33	A	G	3: 103,310,434		probably benign	Het
Trim42	T	A	9: 97,365,621	I341F	probably damaging	Het
Trim55	T	C	3: 19,644,637	F10S	probably benign	Het
Trpm1	T	C	7: 64,217,658	W369R	probably damaging	Het
Vps13d	C	T	4: 145,141,334	R1976H	probably damaging	Het

Other mutations in Rhbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0496:Rhbg	UTSW	3	88254498	missense	probably benign
R0786:Rhbg	UTSW	3	88244568	missense	probably benign	0.04
R1737:Rhbg	UTSW	3	88245874	missense	probably damaging	1.00
R1927:Rhbg	UTSW	3	88244552	missense	probably benign	0.00
R2088:Rhbg	UTSW	3	88247458	missense	probably damaging	1.00
R3976:Rhbg	UTSW	3	88244536	missense	probably damaging	1.00
R4056:Rhbg	UTSW	3	88243448	missense	probably damaging	1.00
R4669:Rhbg	UTSW	3	88245966	missense	probably damaging	1.00
R4878:Rhbg	UTSW	3	88247453	missense	probably benign	0.43
R5032:Rhbg	UTSW	3	88245134	missense	probably damaging	1.00
R5330:Rhbg	UTSW	3	88245468	missense	probably benign	0.10
R5331:Rhbg	UTSW	3	88245468	missense	probably benign	0.10
R5788:Rhbg	UTSW	3	88245567	missense	probably benign	0.00
R6293:Rhbg	UTSW	3	88245826	nonsense	probably null
R6882:Rhbg	UTSW	3	88245220	missense	probably damaging	1.00
R7493:Rhbg	UTSW	3	88247579	missense	probably damaging	1.00
R7944:Rhbg	UTSW	3	88247700	missense	probably benign	0.19
R8024:Rhbg	UTSW	3	88248453	missense	probably damaging	1.00
R8358:Rhbg	UTSW	3	88245218	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCCCTTGTGAAGTGATGG -3'
(R):5'- TCCAGGCTGAATGCTTTGTTCCG -3'

Sequencing Primer
(F):5'- GCCCACTCTAGGTTGAAACAGTAG -3'
(R):5'- CTCCTGGTGGGAGGCTG -3'

Posted On

2014-03-14