Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01336:Rgma'

74641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgma

Ensembl Gene

ENSMUSG00000070509

Gene Name

repulsive guidance molecule family member A

Synonyms

RGM domain family, member A

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

IGL01336

Quality Score

Status

Chromosome

Chromosomal Location

73375509-73419899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73409318 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 57 (V57M)

Ref Sequence

ENSEMBL: ENSMUSP00000145758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094312] [ENSMUST00000119206] [ENSMUST00000128471] [ENSMUST00000139780]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094312
AA Change: V73M

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: V73M

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Pfam:RGM_N	48	223	6.6e-74	PFAM
Pfam:RGM_C	227	410	1.5e-75	PFAM
low complexity region	422	430	N/A	INTRINSIC
low complexity region	439	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119206

SMART Domains

Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509

Domain	Start	End	E-Value	Type
Pfam:RGM_N	1	113	3.8e-45	PFAM
Pfam:RGM_C	117	302	1.8e-76	PFAM
low complexity region	312	320	N/A	INTRINSIC
low complexity region	329	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128471
AA Change: V57M

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116552
Gene: ENSMUSG00000070509
AA Change: V57M

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:RGM_N	32	101	7.5e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139780
AA Change: V57M

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206096

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Inactivation of this locus results in impaired cephalic closure and subsequent exencephaly, both with incomplete penetrance. The retinal topography of the visual system is normal in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	G	T	11: 100,495,910	L599I	probably benign	Het
Adcyap1	A	G	17: 93,203,964	D122G	probably benign	Het
Ahr	A	G	12: 35,503,840	V760A	probably benign	Het
Ankrd7	T	C	6: 18,868,278	V133A	probably benign	Het
Bsn	A	G	9: 108,111,785	V2256A	probably damaging	Het
Cblb	A	G	16: 52,186,229	K765E	probably benign	Het
Clmp	A	G	9: 40,782,610	*374W	probably null	Het
Ddc	A	G	11: 11,846,630		probably null	Het
Dnah10	A	G	5: 124,775,512	Y1878C	probably damaging	Het
Ei24	A	G	9: 36,786,481		probably null	Het
Gm12394	T	A	4: 42,793,784	Q116L	possibly damaging	Het
Gm8394	T	C	10: 85,314,164		noncoding transcript	Het
Ikbke	A	G	1: 131,273,756	M118T	probably damaging	Het
Il6st	T	C	13: 112,480,239	S107P	possibly damaging	Het
Map2k6	A	G	11: 110,496,411	Y203C	probably damaging	Het
Mettl27	C	T	5: 134,935,880		probably benign	Het
Mrps14	G	A	1: 160,196,995	W32*	probably null	Het
Naaa	A	C	5: 92,265,133	M208R	probably benign	Het
Nat2	A	G	8: 67,501,541	Y101C	probably damaging	Het
Ncoa3	A	G	2: 166,054,523	S449G	probably benign	Het
Olfr1507	A	G	14: 52,490,748	I72T	probably damaging	Het
Olfr5	T	C	7: 6,480,998	I53V	probably benign	Het
Phykpl	G	A	11: 51,599,456		probably benign	Het
Rasgrf1	A	T	9: 89,991,530	M631L	probably benign	Het
Samd4b	G	T	7: 28,413,963	D192E	probably benign	Het
Sesn2	T	C	4: 132,499,367	T139A	probably benign	Het
Slc30a6	A	G	17: 74,408,839		probably benign	Het
Stra8	T	C	6: 34,933,188	Y182H	possibly damaging	Het
Trim31	C	A	17: 36,909,377	A395E	probably damaging	Het
Trp53bp2	G	T	1: 182,431,583	R67L	probably damaging	Het
Trpa1	A	C	1: 14,886,880		probably benign	Het
Wdr91	G	A	6: 34,909,543		probably benign	Het

Other mutations in Rgma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rgma	APN	7	73417491	missense	probably damaging	1.00
IGL01089:Rgma	APN	7	73409714	missense	possibly damaging	0.79
IGL01339:Rgma	APN	7	73417483	missense	probably damaging	1.00
IGL01340:Rgma	APN	7	73417330	missense	probably damaging	1.00
IGL02034:Rgma	APN	7	73417433	missense	probably damaging	0.99
IGL03003:Rgma	APN	7	73417440	missense	probably damaging	0.97
IGL03050:Rgma	UTSW	7	73417515	missense	probably damaging	1.00
R0173:Rgma	UTSW	7	73417554	missense	probably damaging	1.00
R0630:Rgma	UTSW	7	73417618	missense	probably damaging	1.00
R0691:Rgma	UTSW	7	73409412	missense	probably damaging	0.99
R0696:Rgma	UTSW	7	73409412	missense	probably damaging	0.99
R0971:Rgma	UTSW	7	73391498	critical splice donor site	probably null
R1394:Rgma	UTSW	7	73417794	missense	probably benign	0.06
R1395:Rgma	UTSW	7	73417794	missense	probably benign	0.06
R1707:Rgma	UTSW	7	73417959	missense	unknown
R1731:Rgma	UTSW	7	73409412	missense	probably damaging	0.99
R1792:Rgma	UTSW	7	73417837	missense	probably damaging	0.97
R2068:Rgma	UTSW	7	73409631	missense	probably damaging	0.98
R2327:Rgma	UTSW	7	73417826	missense	probably damaging	1.00
R4707:Rgma	UTSW	7	73417816	missense	probably damaging	1.00
R5976:Rgma	UTSW	7	73409468	missense	probably damaging	0.97
R6458:Rgma	UTSW	7	73409694	missense	probably damaging	1.00
R6702:Rgma	UTSW	7	73417320	missense	probably damaging	1.00
R7123:Rgma	UTSW	7	73409391	missense	probably damaging	1.00
R7767:Rgma	UTSW	7	73418004	missense	unknown
R8169:Rgma	UTSW	7	73375882	missense	probably benign	0.25
R8733:Rgma	UTSW	7	73409288	missense	possibly damaging	0.81
V7732:Rgma	UTSW	7	73417320	missense	probably damaging	1.00
Z1177:Rgma	UTSW	7	73409675	missense	probably damaging	1.00

Posted On

2013-10-07