Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01089:Rgma'

51491

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: 0.198) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

73375509-73419899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73409714 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 189 (V189L)

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: V205L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: V205L

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
AA Change: V95L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509
AA Change: V95L

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

SMART Domains

Protein: ENSMUSP00000116552
Gene: ENSMUSG00000070509

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: V189L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in Rgma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rgma	APN	7	73417491	missense	probably damaging	1.00
IGL01336:Rgma	APN	7	73409318	missense	possibly damaging	0.61
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
R8794:Rgma	UTSW	7	73417900	missense	probably damaging	1.00
V7732:Rgma	UTSW	7	73417320	missense	probably damaging	1.00
Z1177:Rgma	UTSW	7	73409675	missense	probably damaging	1.00

Posted On

2013-06-21