Incidental Mutation 'IGL01799:Rerg'
| ID |
155438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rerg
|
| Ensembl Gene |
ENSMUSG00000030222 |
| Gene Name |
RAS-like, estrogen-regulated, growth-inhibitor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL01799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
137031822-137147494 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 137033376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 100
(K100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032347]
[ENSMUST00000117919]
[ENSMUST00000119610]
[ENSMUST00000203003]
|
| AlphaFold |
Q8R367 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032347
AA Change: K119*
|
| SMART Domains |
Protein: ENSMUSP00000032347
Gene: ENSMUSG00000030222
AA Change: K119*
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
4 |
170 |
7.2e-71 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117919
AA Change: K119*
|
| SMART Domains |
Protein: ENSMUSP00000113105
Gene: ENSMUSG00000030222
AA Change: K119*
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
4 |
170 |
7.2e-71 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119610
AA Change: K100*
|
| SMART Domains |
Protein: ENSMUSP00000113702
Gene: ENSMUSG00000030222
AA Change: K100*
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
4 |
151 |
8.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203003
|
| SMART Domains |
Protein: ENSMUSP00000144823
Gene: ENSMUSG00000030222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
1 |
59 |
3.4e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
| Anp32a |
A |
G |
9: 62,279,092 (GRCm39) |
T35A |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,482,258 (GRCm39) |
I32V |
possibly damaging |
Het |
| Fbll1 |
A |
C |
11: 35,688,936 (GRCm39) |
V109G |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,633,757 (GRCm39) |
L743Q |
probably benign |
Het |
| Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
| Ms4a6d |
A |
T |
19: 11,567,499 (GRCm39) |
I26N |
probably damaging |
Het |
| Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
| Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
| Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
possibly damaging |
Het |
|
| Other mutations in Rerg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0502:Rerg
|
UTSW |
6 |
137,033,305 (GRCm39) |
nonsense |
probably null |
|
|
R1370:Rerg
|
UTSW |
6 |
137,034,799 (GRCm39) |
splice site |
probably benign |
|
|
R2056:Rerg
|
UTSW |
6 |
137,034,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4919:Rerg
|
UTSW |
6 |
137,033,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6651:Rerg
|
UTSW |
6 |
137,033,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Rerg
|
UTSW |
6 |
137,044,033 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8167:Rerg
|
UTSW |
6 |
137,034,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8477:Rerg
|
UTSW |
6 |
137,033,184 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9683:Rerg
|
UTSW |
6 |
137,033,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Rerg
|
UTSW |
6 |
137,033,415 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation