Incidental Mutation 'IGL01069:Rgma'
ID 51446
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 # IGL01069
Quality Score
Status
Chromosome 7
Chromosomal Location 73025268-73069647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73067239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 165 (A165T)
Ref Sequence ENSEMBL: ENSMUSP00000112599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094312] [ENSMUST00000119206] [ENSMUST00000139780]
AlphaFold Q6PCX7
Predicted Effect probably damaging
Transcript: ENSMUST00000094312
AA Change: A275T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: A275T

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 damaging
Transcript: ENSMUST00000119206
AA Change: A165T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509
AA Change: A165T

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: A259T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Rgma
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01339:Rgma APN 7 73,067,231 (GRCm39) missense probably damaging 1.00
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 2013-06-21