Incidental Mutation 'IGL01339:Rgma'
ID 74764
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
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL01339
Quality Score
Status
Chromosome 7
Chromosomal Location 73025268-73069647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73067231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 256 (E256G)
Ref Sequence ENSEMBL: ENSMUSP00000145758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094312] [ENSMUST00000119206] [ENSMUST00000139780]
AlphaFold Q6PCX7
Predicted Effect probably damaging
Transcript: ENSMUST00000094312
AA Change: E272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: E272G

DomainStartEndE-ValueType
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: E162G

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509
AA Change: E162G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000139780
AA Change: E256G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205492
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,180,338 (GRCm39) T2565A probably damaging Het
C8a A C 4: 104,685,182 (GRCm39) F354V probably benign Het
Cadps C T 14: 12,486,543 (GRCm38) V876M possibly damaging Het
Chmp7 A T 14: 69,956,855 (GRCm39) I351N probably damaging Het
Clec7a A T 6: 129,442,449 (GRCm39) W193R probably damaging Het
Clint1 T C 11: 45,799,846 (GRCm39) V535A probably benign Het
Clu A G 14: 66,213,037 (GRCm39) E141G probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cntn2 A T 1: 132,446,643 (GRCm39) probably null Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cyp2d10 C T 15: 82,288,042 (GRCm39) A195T probably benign Het
Dnah10 G T 5: 124,854,276 (GRCm39) K1901N probably damaging Het
Dnai3 T C 3: 145,748,591 (GRCm39) Y841C probably benign Het
Dop1a G A 9: 86,433,730 (GRCm39) D2329N possibly damaging Het
Eipr1 A G 12: 28,914,770 (GRCm39) E308G probably damaging Het
Exoc4 T C 6: 33,282,335 (GRCm39) probably benign Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbn2 T C 18: 58,246,442 (GRCm39) T487A possibly damaging Het
Fbxo40 T C 16: 36,790,816 (GRCm39) E98G probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gls C T 1: 52,227,867 (GRCm39) D217N probably damaging Het
Gm6994 A G 14: 77,718,618 (GRCm39) probably benign Het
Gpr149 A T 3: 62,511,718 (GRCm39) W94R probably damaging Het
Gpr158 A G 2: 21,373,842 (GRCm39) D259G possibly damaging Het
Hcn2 T C 10: 79,564,902 (GRCm39) L438P probably damaging Het
Hgd A C 16: 37,452,092 (GRCm39) T374P possibly damaging Het
Ints3 A G 3: 90,322,463 (GRCm39) probably null Het
Kctd5 A T 17: 24,276,749 (GRCm39) V172E probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lrrc37a A G 11: 103,388,763 (GRCm39) S2221P unknown Het
Ltk T A 2: 119,583,455 (GRCm39) D310V probably damaging Het
Luzp1 T A 4: 136,270,087 (GRCm39) M770K probably damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Mzb1 T A 18: 35,781,399 (GRCm39) H71L probably benign Het
Necap2 G A 4: 140,802,276 (GRCm39) T63I probably benign Het
Nefl A G 14: 68,323,931 (GRCm39) probably benign Het
Odam G A 5: 88,033,755 (GRCm39) probably null Het
Pcdh18 A G 3: 49,710,247 (GRCm39) I356T probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Pde2a T C 7: 101,156,366 (GRCm39) S593P probably benign Het
Rapgef3 A T 15: 97,655,940 (GRCm39) L359M probably damaging Het
Rb1 T C 14: 73,501,811 (GRCm39) probably null Het
Rbm44 A G 1: 91,096,686 (GRCm39) I976V probably benign Het
Rdh13 A T 7: 4,430,623 (GRCm39) S278R probably damaging Het
Rnf112 A T 11: 61,341,303 (GRCm39) D402E probably benign Het
Rnps1 T A 17: 24,641,273 (GRCm39) D224E probably damaging Het
Scn10a C T 9: 119,451,832 (GRCm39) V1364M probably damaging Het
Scn1a C T 2: 66,156,304 (GRCm39) R535H probably benign Het
Scn8a A T 15: 100,930,082 (GRCm39) D1431V probably benign Het
Setdb1 A T 3: 95,245,891 (GRCm39) L677* probably null Het
Slc17a8 T A 10: 89,427,106 (GRCm39) I148F probably damaging Het
Slx4ip T A 2: 136,885,975 (GRCm39) C98* probably null Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Tcof1 T C 18: 60,951,167 (GRCm39) probably benign Het
Tdrd3 G A 14: 87,718,230 (GRCm39) V210I possibly damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tmod4 G A 3: 95,035,608 (GRCm39) R252H probably benign Het
Tti1 G T 2: 157,851,050 (GRCm39) P63Q possibly damaging Het
Tuft1 A T 3: 94,535,594 (GRCm39) D109E probably damaging Het
Zcchc2 T C 1: 105,957,505 (GRCm39) S659P probably damaging Het
Other mutations in Rgma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rgma APN 7 73,067,239 (GRCm39) missense probably damaging 1.00
IGL01089:Rgma APN 7 73,059,462 (GRCm39) missense possibly damaging 0.79
IGL01336:Rgma APN 7 73,059,066 (GRCm39) missense possibly damaging 0.61
IGL01340:Rgma APN 7 73,067,078 (GRCm39) missense probably damaging 1.00
IGL02034:Rgma APN 7 73,067,181 (GRCm39) missense probably damaging 0.99
IGL03003:Rgma APN 7 73,067,188 (GRCm39) missense probably damaging 0.97
IGL03050:Rgma UTSW 7 73,067,263 (GRCm39) missense probably damaging 1.00
R0173:Rgma UTSW 7 73,067,302 (GRCm39) missense probably damaging 1.00
R0630:Rgma UTSW 7 73,067,366 (GRCm39) missense probably damaging 1.00
R0691:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R0696:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R0971:Rgma UTSW 7 73,041,246 (GRCm39) critical splice donor site probably null
R1394:Rgma UTSW 7 73,067,542 (GRCm39) missense probably benign 0.06
R1395:Rgma UTSW 7 73,067,542 (GRCm39) missense probably benign 0.06
R1707:Rgma UTSW 7 73,067,707 (GRCm39) missense unknown
R1731:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R1792:Rgma UTSW 7 73,067,585 (GRCm39) missense probably damaging 0.97
R2068:Rgma UTSW 7 73,059,379 (GRCm39) missense probably damaging 0.98
R2327:Rgma UTSW 7 73,067,574 (GRCm39) missense probably damaging 1.00
R4707:Rgma UTSW 7 73,067,564 (GRCm39) missense probably damaging 1.00
R5976:Rgma UTSW 7 73,059,216 (GRCm39) missense probably damaging 0.97
R6458:Rgma UTSW 7 73,059,442 (GRCm39) missense probably damaging 1.00
R6702:Rgma UTSW 7 73,067,068 (GRCm39) missense probably damaging 1.00
R7123:Rgma UTSW 7 73,059,139 (GRCm39) missense probably damaging 1.00
R7767:Rgma UTSW 7 73,067,752 (GRCm39) missense unknown
R8169:Rgma UTSW 7 73,025,630 (GRCm39) missense probably benign 0.25
R8733:Rgma UTSW 7 73,059,036 (GRCm39) missense possibly damaging 0.81
R8794:Rgma UTSW 7 73,067,648 (GRCm39) missense probably damaging 1.00
V7732:Rgma UTSW 7 73,067,068 (GRCm39) missense probably damaging 1.00
Z1177:Rgma UTSW 7 73,059,423 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07