Incidental Mutation 'IGL01336:Rgma'
| ID |
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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
73025268-73069647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73059066 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q6PCX7 |
| 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: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rgma |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2013-10-07 |
Incidental Mutation