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)
|
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
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 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
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 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |