Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Rhag'

608976

Institutional Source

Beutler Lab

Gene Symbol

Rhag

Ensembl Gene

ENSMUSG00000023926

Gene Name

Rhesus blood group-associated A glycoprotein

Synonyms

Rh50, CD241, Rh50A

MMRRC Submission

045936-MU

Accession Numbers

Essential gene?

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

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41122017-41151645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41142536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 247 (Y247C)

Ref Sequence

ENSEMBL: ENSMUSP00000024721 (fasta)

Gene Model

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

AlphaFold

Q9QUT0

Predicted Effect

probably benign
Transcript: ENSMUST00000024721
AA Change: Y247C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: Y247C

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- AGGCATCATTTGGAGATCACTTTG -3'
(R):5'- CTGTCTGATTTTAACTGACCAGC -3'

Sequencing Primer
(F):5'- TGCCTCACTTTTTGATGATCAAG -3'
(R):5'- GACCAGCATAAATTACAAAACTGTG -3'

Posted On

2019-12-20