Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Rgmb'

417121

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 #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

16024923-16051508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16027565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 385 (A385T)

Ref Sequence

ENSEMBL: ENSMUSP00000126177 (fasta)

Gene Model

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

AlphaFold

Q7TQ33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170578
AA Change: A385T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126177
Gene: ENSMUSG00000048027
AA Change: A385T

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Brd4	T	A	17: 32,432,046 (GRCm39)	D606V	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Lyrm1	A	T	7: 119,513,469 (GRCm39)	Q78L	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Mboat1	T	A	13: 30,320,742 (GRCm39)	D31E	probably benign	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Or6c66b	A	G	10: 129,376,925 (GRCm39)	D173G	probably damaging	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Sntn	A	T	14: 13,678,991 (GRCm38)	D55V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	probably benign	Het

Other mutations in Rgmb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02939:Rgmb	APN	17	16,027,755 (GRCm39)	missense	probably benign	0.00
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

2016-08-02