Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Rgmb'

365923

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgmb

Ensembl Gene

ENSMUSG00000048027

Gene Name

repulsive guidance molecule family member B

Synonyms

RGM domain family, member B, 1110059F19Rik, DRAGON

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

16024923-16051508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16027755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 321 (M321I)

Ref Sequence

ENSEMBL: ENSMUSP00000126177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170578]

AlphaFold

Q7TQ33

Predicted Effect

probably benign
Transcript: ENSMUST00000170578
AA Change: M321I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126177
Gene: ENSMUSG00000048027
AA Change: M321I

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
Pfam:RGM_N	57	225	6.8e-66	PFAM
Pfam:RGM_C	229	408	1e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231906

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality at 2 to 3 weeks after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Rgmb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03338:Rgmb	APN	17	16,027,565 (GRCm39)	missense	possibly damaging	0.90
R2504:Rgmb	UTSW	17	16,027,909 (GRCm39)	missense	probably benign	0.00
R2991:Rgmb	UTSW	17	16,041,352 (GRCm39)	missense	probably damaging	0.97
R4460:Rgmb	UTSW	17	16,027,888 (GRCm39)	missense	probably benign	0.00
R4835:Rgmb	UTSW	17	16,027,624 (GRCm39)	missense	possibly damaging	0.93
R5304:Rgmb	UTSW	17	16,040,990 (GRCm39)	nonsense	probably null
R6235:Rgmb	UTSW	17	16,041,081 (GRCm39)	missense	probably damaging	1.00
R6950:Rgmb	UTSW	17	16,028,048 (GRCm39)	missense	probably damaging	1.00
R7543:Rgmb	UTSW	17	16,027,777 (GRCm39)	missense	probably damaging	1.00
R7983:Rgmb	UTSW	17	16,041,189 (GRCm39)	missense	possibly damaging	0.95
R8956:Rgmb	UTSW	17	16,027,748 (GRCm39)	missense	probably benign
R9620:Rgmb	UTSW	17	16,041,279 (GRCm39)	nonsense	probably null

Posted On

2015-12-18