Mutagenetix > Incidental Mutation

Incidental Mutation 'R7407:Rhag'

574818

Institutional Source

Beutler Lab

Gene Symbol

Rhag

Ensembl Gene

ENSMUSG00000023926

Gene Name

Rhesus blood group-associated A glycoprotein

Synonyms

Rh50, CD241, Rh50A

MMRRC Submission

045488-MU

Accession Numbers

Essential gene?

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

Stock #

R7407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41122017-41151645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41142225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 223 (I223V)

Ref Sequence

ENSEMBL: ENSMUSP00000024721 (fasta)

Gene Model

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

AlphaFold

Q9QUT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024721
AA Change: I223V

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: I223V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,626 (GRCm39)	N220S	probably damaging	Het
Abcb8	T	C	5: 24,605,674 (GRCm39)	V186A	probably benign	Het
Actbl2	A	T	13: 111,392,752 (GRCm39)	E362D	probably damaging	Het
Adamts17	C	A	7: 66,697,304 (GRCm39)	Y28*	probably null	Het
Agtr1b	T	C	3: 20,369,895 (GRCm39)	D237G	possibly damaging	Het
Amer2	A	G	14: 60,616,291 (GRCm39)	D162G	probably damaging	Het
Ankub1	T	C	3: 57,572,624 (GRCm39)	E366G	probably benign	Het
Ap5z1	A	G	5: 142,452,330 (GRCm39)	I88V	probably benign	Het
Ccdc186	T	C	19: 56,801,817 (GRCm39)	N100S	probably benign	Het
Cldn19	A	G	4: 119,112,882 (GRCm39)	D38G	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Deaf1	G	A	7: 140,877,492 (GRCm39)	A545V	possibly damaging	Het
Dicer1	G	T	12: 104,688,610 (GRCm39)	Y322*	probably null	Het
Dnajb7	G	T	15: 81,291,827 (GRCm39)	T170K	possibly damaging	Het
Flrt2	A	T	12: 95,746,074 (GRCm39)	E137D	probably damaging	Het
Galnt12	T	C	4: 47,120,362 (GRCm39)	F482L	probably damaging	Het
Gm32742	A	G	9: 51,067,974 (GRCm39)	V336A	probably damaging	Het
Gpatch8	G	A	11: 102,370,656 (GRCm39)	R961W	unknown	Het
Hcn4	A	G	9: 58,766,653 (GRCm39)	E738G	unknown	Het
Kdelr3	A	G	15: 79,409,039 (GRCm39)	Y76C	probably damaging	Het
Krt77	T	C	15: 101,768,530 (GRCm39)	S494G	unknown	Het
Letmd1	G	T	15: 100,367,119 (GRCm39)	A39S	probably benign	Het
Lrrc7	G	A	3: 157,840,878 (GRCm39)	R1387W	probably damaging	Het
Meltf	T	C	16: 31,713,553 (GRCm39)	Y599H	probably damaging	Het
Mybpc1	T	A	10: 88,385,209 (GRCm39)	I477L	probably damaging	Het
Nf1	A	G	11: 79,338,969 (GRCm39)	D1174G	probably damaging	Het
Or2t6	T	A	14: 14,175,402 (GRCm38)	I227L	probably benign	Het
Or8b44	T	A	9: 38,410,800 (GRCm39)	Y278*	probably null	Het
Palld	G	T	8: 61,968,975 (GRCm39)	S1283*	probably null	Het
Pcmtd2	T	C	2: 181,488,398 (GRCm39)	V183A	possibly damaging	Het
Pcsk5	T	A	19: 17,652,880 (GRCm39)	I269F	probably damaging	Het
Pkd1	T	C	17: 24,813,568 (GRCm39)	L4036P	probably damaging	Het
Pkhd1l1	A	G	15: 44,458,407 (GRCm39)	N4151S	possibly damaging	Het
Rcor3	C	T	1: 191,785,972 (GRCm39)	S422N	probably benign	Het
Ssbp4	A	G	8: 71,051,672 (GRCm39)	Y231H	probably damaging	Het
Syce1l	C	T	8: 114,381,770 (GRCm39)	Q237*	probably null	Het
Tenm4	T	C	7: 96,423,194 (GRCm39)	V663A	possibly damaging	Het
Timd6	A	G	11: 46,468,217 (GRCm39)	Y97C	probably damaging	Het
Trim6	T	C	7: 103,875,108 (GRCm39)	I115T	probably damaging	Het
Vinac1	A	G	2: 128,880,729 (GRCm39)	I399T		Het
Vmn1r25	T	A	6: 57,956,044 (GRCm39)	T82S	possibly damaging	Het
Vmn2r28	A	G	7: 5,484,308 (GRCm39)	S631P	probably damaging	Het
Xpo1	T	A	11: 23,235,823 (GRCm39)	V637E	probably damaging	Het
Xpo6	A	T	7: 125,770,224 (GRCm39)	M62K	probably damaging	Het
Ypel5	A	G	17: 73,153,374 (GRCm39)	N26S	possibly damaging	Het
Zbtb24	C	A	10: 41,340,775 (GRCm39)	Q624K	possibly damaging	Het
Zfp629	T	C	7: 127,209,415 (GRCm39)	D798G	probably benign	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	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
R0570:Rhag	UTSW	17	41,139,804 (GRCm39)	splice site	probably benign
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
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'- TGCCTATGTTGAGAGCCAGC -3'
(R):5'- CCATTTTAAAGGGTAGTTTGCTCTG -3'

Sequencing Primer
(F):5'- ATGTTGAGAGCCAGCTTCAC -3'
(R):5'- CTCTGGGAATTGACGTCTGTCC -3'

Posted On

2019-10-07