Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Rhag'

189063

Institutional Source

Beutler Lab

Gene Symbol

Rhag

Ensembl Gene

ENSMUSG00000023926

Gene Name

Rhesus blood group-associated A glycoprotein

Synonyms

Rh50, CD241, Rh50A

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

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

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41122017-41151645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41142487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 231 (F231L)

Ref Sequence

ENSEMBL: ENSMUSP00000024721 (fasta)

Gene Model

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

AlphaFold

Q9QUT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024721
AA Change: F231L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: F231L

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly 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
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'- TGAGTAAAATGAGCCTGACACTTGCC -3'
(R):5'- ATTGACACTTACCATATCCAGCCTGC -3'

Sequencing Primer
(F):5'- TCTCAGAAGGCATCATTTGGAG -3'
(R):5'- ATATCCAGCCTGCCTCGG -3'

Posted On

2014-05-09