Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Rhag'

319000

Institutional Source

Beutler Lab

Gene Symbol

Rhag

Ensembl Gene

ENSMUSG00000023926

Gene Name

Rhesus blood group-associated A glycoprotein

Synonyms

Rh50, CD241, Rh50A

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40811126-40840754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40831653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 250 (I250F)

Ref Sequence

ENSEMBL: ENSMUSP00000024721 (fasta)

Gene Model

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

AlphaFold

Q9QUT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024721
AA Change: I250F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: I250F

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

Meta Mutation Damage Score

0.5899

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Rhag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Rhag	APN	17	40811287	missense	possibly damaging	0.73
IGL01463:Rhag	APN	17	40828755	missense	probably damaging	1.00
IGL01954:Rhag	APN	17	40828450	missense	possibly damaging	0.88
IGL03000:Rhag	APN	17	40828522	missense	probably benign	0.00
R0385:Rhag	UTSW	17	40834727	missense	probably damaging	0.97
R0570:Rhag	UTSW	17	40828913	splice site	probably benign
R0811:Rhag	UTSW	17	40831578	missense	possibly damaging	0.74
R0812:Rhag	UTSW	17	40831578	missense	possibly damaging	0.74
R1655:Rhag	UTSW	17	40831596	missense	probably damaging	0.98
R2376:Rhag	UTSW	17	40811363	critical splice donor site	probably null
R2698:Rhag	UTSW	17	40836476	missense	probably damaging	0.99
R4695:Rhag	UTSW	17	40836467	missense	probably damaging	0.99
R4705:Rhag	UTSW	17	40836438	missense	probably benign	0.35
R4729:Rhag	UTSW	17	40828401	missense	probably damaging	1.00
R4790:Rhag	UTSW	17	40831290	missense	probably benign	0.23
R4895:Rhag	UTSW	17	40811351	missense	probably benign
R5224:Rhag	UTSW	17	40828504	missense	probably damaging	0.98
R5685:Rhag	UTSW	17	40831331	missense	possibly damaging	0.88
R7403:Rhag	UTSW	17	40834658	missense	probably damaging	1.00
R7407:Rhag	UTSW	17	40831334	missense	possibly damaging	0.56
R7553:Rhag	UTSW	17	40828395	missense	probably damaging	1.00
R7884:Rhag	UTSW	17	40831645	missense	probably benign	0.06
R8056:Rhag	UTSW	17	40828788	missense	probably damaging	1.00
R9135:Rhag	UTSW	17	40828411	missense	probably damaging	1.00
R9229:Rhag	UTSW	17	40831190	missense	probably damaging	1.00
R9360:Rhag	UTSW	17	40831657	missense	possibly damaging	0.82
R9777:Rhag	UTSW	17	40828525	missense	probably benign	0.02
X0064:Rhag	UTSW	17	40833505	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TATGGTGGGTCAGTAGTCCC -3'
(R):5'- TTCTGTCTGATTTTAACTGACCAGC -3'

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

Posted On

2015-06-10