Mutagenetix > Incidental Mutation

Incidental Mutation 'R8358:Rhbg'

645852

Institutional Source

Beutler Lab

Gene Symbol

Rhbg

Ensembl Gene

ENSMUSG00000104445

Gene Name

Rhesus blood group-associated B glycoprotein

Synonyms

MMRRC Submission

067871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88150181-88162016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88152525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 340 (N340Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171887]

AlphaFold

Q8BUX5

Predicted Effect

probably benign
Transcript: ENSMUST00000163277

Predicted Effect

SMART Domains

Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: N318Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171887
AA Change: N340Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: N340Y

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:Ammonium_transp	22	419	5.9e-74	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,367,796 (GRCm39)	S52P	possibly damaging	Het
Adamts19	G	T	18: 59,181,881 (GRCm39)	G1107C	probably damaging	Het
Afap1	A	T	5: 36,131,830 (GRCm39)	T386S	probably benign	Het
Alg12	T	C	15: 88,695,503 (GRCm39)	Y331C	probably null	Het
Aste1	T	A	9: 105,274,255 (GRCm39)	I165N	probably damaging	Het
Atp13a5	A	G	16: 29,167,805 (GRCm39)	I118T	probably damaging	Het
AW551984	A	G	9: 39,510,651 (GRCm39)	V228A	probably damaging	Het
Cachd1	A	G	4: 100,816,668 (GRCm39)	Y357C	possibly damaging	Het
Cacul1	T	A	19: 60,551,673 (GRCm39)	H183L	possibly damaging	Het
Casp16	T	A	17: 23,772,348 (GRCm39)	I39F	probably damaging	Het
Chd7	G	T	4: 8,839,529 (GRCm39)	C1355F	probably damaging	Het
Csnk1a1	A	G	18: 61,713,610 (GRCm39)		probably null	Het
Ctif	G	A	18: 75,698,115 (GRCm39)	H182Y	possibly damaging	Het
Cubn	C	T	2: 13,329,971 (GRCm39)	V2637I	probably benign	Het
Dlx1	T	A	2: 71,360,652 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,376,457 (GRCm39)	N1414S	possibly damaging	Het
Erich6	A	T	3: 58,544,449 (GRCm39)	L46*	probably null	Het
Fcho2	G	A	13: 98,862,282 (GRCm39)	R804*	probably null	Het
Gas7	T	A	11: 67,543,734 (GRCm39)	I114N	probably benign	Het
Gpr137b	T	C	13: 13,533,929 (GRCm39)	T376A	probably benign	Het
H2-T24	T	C	17: 36,328,229 (GRCm39)	M85V	probably benign	Het
Klk1b16	T	A	7: 43,790,185 (GRCm39)	C152S	probably damaging	Het
Lrrc31	G	A	3: 30,753,932 (GRCm39)		probably benign	Het
Magt1	C	T	X: 105,040,501 (GRCm39)	A100T	probably benign	Het
Mki67	T	C	7: 135,301,855 (GRCm39)	K1060E	possibly damaging	Het
Nif3l1	A	T	1: 58,491,288 (GRCm39)	T213S	probably benign	Het
Oasl1	T	A	5: 115,075,465 (GRCm39)	F508L	probably benign	Het
Or10ak8	A	T	4: 118,773,723 (GRCm39)	*314R	probably null	Het
Or2a25	T	C	6: 42,888,976 (GRCm39)	V173A	possibly damaging	Het
Or4a80	C	T	2: 89,582,423 (GRCm39)	V250I	probably benign	Het
Or5b122	T	C	19: 13,562,764 (GRCm39)	L32P	probably damaging	Het
Psg23	T	C	7: 18,348,522 (GRCm39)	D95G	probably benign	Het
Ptprr	T	C	10: 115,884,180 (GRCm39)	I79T	probably benign	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Sash1	C	A	10: 8,605,745 (GRCm39)	V882L	probably benign	Het
Sharpin	C	T	15: 76,232,197 (GRCm39)	V220I	probably damaging	Het
Slc22a22	T	A	15: 57,108,243 (GRCm39)	D524V	probably damaging	Het
Slc43a3	T	C	2: 84,780,860 (GRCm39)	Y362H	probably benign	Het
Slc4a3	T	A	1: 75,530,359 (GRCm39)	D687E	probably damaging	Het
Slco1a5	A	G	6: 142,208,411 (GRCm39)	S127P	probably benign	Het
Spg11	T	C	2: 121,910,739 (GRCm39)	I1213V	possibly damaging	Het
Synj2	T	A	17: 6,074,080 (GRCm39)	Y813*	probably null	Het
Tbc1d10a	T	C	11: 4,155,837 (GRCm39)	M131T	probably damaging	Het
Tnfrsf19	C	A	14: 61,208,634 (GRCm39)	V296F	probably benign	Het
Trim45	T	C	3: 100,834,634 (GRCm39)	V439A	probably damaging	Het
Trim54	A	G	5: 31,294,338 (GRCm39)	T325A	probably benign	Het
Usp40	T	C	1: 87,908,770 (GRCm39)	E577G	possibly damaging	Het
Uts2r	T	A	11: 121,051,345 (GRCm39)	Y70N	probably damaging	Het
Vmn1r72	T	G	7: 11,404,310 (GRCm39)	D46A	probably damaging	Het
Zfc3h1	T	C	10: 115,240,198 (GRCm39)	V577A	probably benign	Het
Zfp987	T	G	4: 146,061,343 (GRCm39)	H258Q	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
R4056:Rhbg	UTSW	3	88,150,755 (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

Predicted Primers

PCR Primer
(F):5'- CTGGTAGGTGAATGGCCAAATG -3'
(R):5'- GTTGCTTTTCAAGACTGGGAC -3'

Sequencing Primer
(F):5'- TGGCCAAATGGGTGGATG -3'
(R):5'- TTTCAAGACTGGGACTAAATATGGG -3'

Posted On

2020-09-02