Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Rhd'

293572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhd

Ensembl Gene

ENSMUSG00000028825

Gene Name

Rh blood group, D antigen

Synonyms

Rhced, Rh, Rhl1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

134591847-134623483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134611481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 214 (M214L)

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: M214L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825
AA Change: M214L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136163

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,383,198 (GRCm39)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,036,606 (GRCm39)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,798 (GRCm39)	L801P	probably damaging	Het
Adcy10	T	G	1: 165,398,313 (GRCm39)	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,705,524 (GRCm39)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,274,318 (GRCm39)	Y531C	probably benign	Het
Atm	T	C	9: 53,365,630 (GRCm39)	I2590V	probably benign	Het
Brme1	T	A	8: 84,886,137 (GRCm39)	M31K	probably benign	Het
Cblb	T	C	16: 51,986,668 (GRCm39)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,283,911 (GRCm39)		probably benign	Het
Coprs	T	C	8: 13,935,797 (GRCm39)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,281,886 (GRCm39)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,033,463 (GRCm39)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,735,456 (GRCm39)	V402L	probably damaging	Het
Disc1	T	A	8: 125,875,142 (GRCm39)		probably benign	Het
Dsg4	C	T	18: 20,579,307 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,963 (GRCm39)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,290,172 (GRCm39)		probably null	Het
Ezh1	A	C	11: 101,101,513 (GRCm39)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm39)	G100D	probably damaging	Het
Herc1	T	A	9: 66,340,764 (GRCm39)	H1704Q	possibly damaging	Het
Itprid2	G	A	2: 79,487,842 (GRCm39)	E642K	probably damaging	Het
Kif26a	T	C	12: 112,140,177 (GRCm39)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,765,242 (GRCm39)	M270T	probably benign	Het
Nap1l3	A	T	X: 121,305,752 (GRCm39)	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,387,889 (GRCm39)		probably benign	Het
Or14j5	A	T	17: 38,162,008 (GRCm39)	H175L	probably damaging	Het
Or4p18	G	A	2: 88,232,456 (GRCm39)	T274I	possibly damaging	Het
Or8b55	T	C	9: 38,726,901 (GRCm39)	I34T	possibly damaging	Het
Otol1	A	T	3: 69,935,367 (GRCm39)	D453V	probably damaging	Het
Papolb	G	A	5: 142,514,480 (GRCm39)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 36,237,094 (GRCm39)	E128G	probably damaging	Het
Prss12	T	A	3: 123,280,669 (GRCm39)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,081,087 (GRCm39)		probably benign	Het
Pygo1	T	A	9: 72,833,222 (GRCm39)	I10N	probably benign	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Ret	G	A	6: 118,158,860 (GRCm39)	T184I	probably damaging	Het
Ripor3	C	A	2: 167,834,682 (GRCm39)		probably benign	Het
Sec16a	A	G	2: 26,312,052 (GRCm39)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,507,051 (GRCm39)	D335E	possibly damaging	Het
Taf6	A	G	5: 138,182,756 (GRCm39)		probably benign	Het
Tnk2	T	C	16: 32,494,408 (GRCm39)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm39)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,452,848 (GRCm39)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,227,393 (GRCm39)		noncoding transcript	Het
Zfp473	A	G	7: 44,383,107 (GRCm39)	C408R	probably damaging	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
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
R8072:Rhd	UTSW	4	134,611,460 (GRCm39)	missense	possibly damaging	0.51
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

Posted On

2015-04-16