Incidental Mutation 'R0696:Rgma'
| ID |
63450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgma
|
| Ensembl Gene |
ENSMUSG00000070509 |
| Gene Name |
repulsive guidance molecule family member A |
| Synonyms |
RGM domain family, member A |
| MMRRC Submission |
038880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0696 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
73025268-73069647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73059160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094312]
[ENSMUST00000119206]
[ENSMUST00000128471]
[ENSMUST00000139780]
|
| AlphaFold |
Q6PCX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094312
AA Change: V104A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: V104A
| 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 damaging
Transcript: ENSMUST00000128471
AA Change: V88A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116552
Gene: ENSMUSG00000070509
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:RGM_N
|
32 |
101 |
7.5e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139780
AA Change: V88A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206096
|
| Meta Mutation Damage Score |
0.7236 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
| Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
| Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
| Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,893 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
| Cyp7b1 |
T |
C |
3: 18,126,749 (GRCm39) |
T466A |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
| Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
| Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,743,373 (GRCm39) |
N560D |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,342,160 (GRCm39) |
N254S |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,406 (GRCm39) |
K74R |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAAGTGCAACTCTGAGTTCTGG -3'
(R):5'- AGAATAGGGTCTCGCAACTCTCTCC -3'
Sequencing Primer
(F):5'- GAGCGCCACGTCATCAG -3'
(R):5'- GCACCTTGCATGTCTGGAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation