Mutagenetix > Incidental Mutation

Incidental Mutation 'R8072:Rhd'

620282

Institutional Source

Beutler Lab

Gene Symbol

Rhd

Ensembl Gene

ENSMUSG00000028825

Gene Name

Rh blood group, D antigen

Synonyms

Rhced, Rh, Rhl1

MMRRC Submission

067507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134591847-134623483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134611460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

Ref Sequence

ENSEMBL: ENSMUSP00000030627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030627]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030627
AA Change: T207A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825
AA Change: T207A

Domain	Start	End	E-Value	Type
Pfam:Ammonium_transp	21	400	1.2e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

MGI Phenotype

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, and a slight increase in iron levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,574 (GRCm39)	S2146P	probably benign	Het
Acad9	G	A	3: 36,129,404 (GRCm39)	V160I	probably benign	Het
Ace	T	C	11: 105,863,785 (GRCm39)	V411A	probably damaging	Het
Ankrd66	T	C	17: 43,854,526 (GRCm39)	E2G	possibly damaging	Het
Apol6	A	T	15: 76,935,303 (GRCm39)	T191S	probably benign	Het
Arhgef17	T	A	7: 100,531,004 (GRCm39)	T352S	probably benign	Het
Atad2	C	T	15: 57,963,374 (GRCm39)	R1081Q	possibly damaging	Het
Atg3	G	T	16: 45,008,048 (GRCm39)	V297F	probably damaging	Het
Atp9b	A	C	18: 80,808,276 (GRCm39)	S663A		Het
Col10a1	G	T	10: 34,266,663 (GRCm39)	V16F	unknown	Het
Col3a1	G	A	1: 45,360,734 (GRCm39)	V55I	unknown	Het
Ctns	T	C	11: 73,082,572 (GRCm39)	T53A	probably benign	Het
Cyp2b23	A	T	7: 26,365,431 (GRCm39)	I468N	probably damaging	Het
Dcbld2	G	A	16: 58,283,460 (GRCm39)	W565*	probably null	Het
Esco2	A	T	14: 66,070,130 (GRCm39)	N16K	probably benign	Het
Fggy	A	G	4: 95,732,394 (GRCm39)	N462D	possibly damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Gm4846	T	C	1: 166,322,241 (GRCm39)	T109A	probably benign	Het
H2-M11	G	T	17: 36,859,026 (GRCm39)	V189L	probably benign	Het
Hmcn1	T	A	1: 150,532,256 (GRCm39)	T3175S	possibly damaging	Het
Hook2	G	A	8: 85,721,120 (GRCm39)	V184M	probably benign	Het
Hspa4l	A	T	3: 40,741,178 (GRCm39)	D730V	probably damaging	Het
Igkv4-68	C	T	6: 69,282,113 (GRCm39)	M19I	probably benign	Het
Igsf9b	C	A	9: 27,228,660 (GRCm39)	T140N	possibly damaging	Het
Kcnj1	G	A	9: 32,308,593 (GRCm39)	R339Q	probably damaging	Het
Lcn8	T	G	2: 25,545,184 (GRCm39)	L118W	probably damaging	Het
Lin28a	A	G	4: 133,745,453 (GRCm39)	F47L	possibly damaging	Het
Loxl4	T	C	19: 42,596,021 (GRCm39)	E144G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgprb1	C	A	7: 48,097,895 (GRCm39)	E6*	probably null	Het
Mthfsd	A	C	8: 121,825,555 (GRCm39)	Y339D	probably damaging	Het
Mup11	A	T	4: 60,615,777 (GRCm39)	F153L	probably damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Plpp7	G	T	2: 31,986,121 (GRCm39)	A100S	probably benign	Het
Prg4	T	C	1: 150,331,774 (GRCm39)	T300A	possibly damaging	Het
Ptprd	A	G	4: 76,004,273 (GRCm39)	F161L	probably benign	Het
Pwp2	G	A	10: 78,007,930 (GRCm39)	A875V	possibly damaging	Het
Sh2d3c	C	T	2: 32,643,150 (GRCm39)	R778C	probably damaging	Het
Slc34a3	A	C	2: 25,119,289 (GRCm39)	V527G	probably benign	Het
Smad2	T	C	18: 76,420,022 (GRCm39)		probably null	Het
Sp110	GTACT	GTACTACT	1: 85,515,207 (GRCm39)		probably benign	Het
Spata21	C	T	4: 140,839,317 (GRCm39)	Q611*	probably null	Het
Taf4b	A	G	18: 14,954,585 (GRCm39)	T554A	probably benign	Het
Tial1	T	C	7: 128,044,194 (GRCm39)	T107A	unknown	Het
Ubxn6	C	A	17: 56,380,195 (GRCm39)	R42L	probably benign	Het
Vmn2r90	A	T	17: 17,947,142 (GRCm39)	N473I	probably damaging	Het
Ythdc1	T	A	5: 86,969,133 (GRCm39)	Y351*	probably null	Het

Other mutations in Rhd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Rhd	APN	4	134,617,650 (GRCm39)	missense	possibly damaging	0.68
IGL02393:Rhd	APN	4	134,611,406 (GRCm39)	missense	probably benign	0.00
IGL02445:Rhd	APN	4	134,611,481 (GRCm39)	missense	possibly damaging	0.95
IGL02863:Rhd	APN	4	134,612,621 (GRCm39)	missense	probably damaging	0.99
R0762:Rhd	UTSW	4	134,603,612 (GRCm39)	splice site	probably benign
R5372:Rhd	UTSW	4	134,611,943 (GRCm39)	missense	possibly damaging	0.83
R5461:Rhd	UTSW	4	134,611,928 (GRCm39)	missense	probably damaging	1.00
R5938:Rhd	UTSW	4	134,623,287 (GRCm39)	missense	probably benign	0.06
R6378:Rhd	UTSW	4	134,621,696 (GRCm39)	missense	possibly damaging	0.95
R7564:Rhd	UTSW	4	134,603,770 (GRCm39)	missense	probably damaging	1.00
R7685:Rhd	UTSW	4	134,611,820 (GRCm39)	splice site	probably null
R8371:Rhd	UTSW	4	134,603,694 (GRCm39)	missense	probably benign	0.00
R8922:Rhd	UTSW	4	134,612,627 (GRCm39)	missense	probably damaging	1.00
Z1176:Rhd	UTSW	4	134,611,835 (GRCm39)	missense	probably damaging	1.00
Z1176:Rhd	UTSW	4	134,607,286 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTAGGCGGGATATACGGAGTTC -3'
(R):5'- TGACACTAGTCTTTGACAGCC -3'

Sequencing Primer
(F):5'- GGATATACGGAGTTCAAGTCCCAC -3'
(R):5'- CTAGTCTTTGACAGCCAAATGC -3'

Posted On

2020-01-23