Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Rhag'

46415

Institutional Source

Beutler Lab

Gene Symbol

Rhag

Ensembl Gene

ENSMUSG00000023926

Gene Name

Rhesus blood group-associated A glycoprotein

Synonyms

Rh50, CD241, Rh50A

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41122017-41151645 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 41139804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024721]

AlphaFold

Q9QUT0

Predicted Effect

probably benign
Transcript: ENSMUST00000024721

SMART Domains

Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926

Domain	Start	End	E-Value	Type
Pfam:Ammonium_transp	43	412	1.5e-83	PFAM

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,751,751 (GRCm39)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,186,247 (GRCm39)	S85L	probably benign	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,547,806 (GRCm39)	W474R	probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,435,165 (GRCm39)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,071,621 (GRCm39)	V421M	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	probably benign	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
IGL01954:Rhag	APN	17	41,139,341 (GRCm39)	missense	possibly damaging	0.88
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCACAGCCACAGTTCTCATTT -3'
(R):5'- TTGGCAAACCGCCAACACTTGA -3'

Sequencing Primer
(F):5'- ACAGTTCTCATTTCCTTTGGCG -3'
(R):5'- GATGGAATCAGTGACATTTCCTAGAG -3'

Posted On

2013-06-11