Incidental Mutation 'IGL03050:Rgma'
| ID |
453432 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03050 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
73025268-73069647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73067263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 173
(V173M)
|
| 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: V283M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: V283M
| 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: V173M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509
AA Change: V173M
| 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: V267M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205492
|
| Meta Mutation Damage Score |
0.2625 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (41/43) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
| Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
| Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
| Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
| Or1ak2 |
T |
A |
2: 36,827,635 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
| Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
| Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
| Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,599,680 (GRCm39) |
L370Q |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,229 (GRCm39) |
F533L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGTGGACCAGAAAGTC -3'
(R):5'- GGCTGTCTCATAGGGGAATGTC -3'
Sequencing Primer
(F):5'- TCTACCAAGCTGAAATGGACG -3'
(R):5'- CTCATAGGGGAATGTCTCGGG -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation