Incidental Mutation 'R4919:Rerg'
| ID |
378472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rerg
|
| Ensembl Gene |
ENSMUSG00000030222 |
| Gene Name |
RAS-like, estrogen-regulated, growth-inhibitor |
| Synonyms |
|
| MMRRC Submission |
042521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
137031822-137147494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137033142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 197
(I197V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032347]
[ENSMUST00000117919]
[ENSMUST00000119610]
[ENSMUST00000203003]
|
| AlphaFold |
Q8R367 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032347
AA Change: I197V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032347
Gene: ENSMUSG00000030222
AA Change: I197V
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
4 |
170 |
7.2e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117919
AA Change: I197V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113105
Gene: ENSMUSG00000030222
AA Change: I197V
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
4 |
170 |
7.2e-71 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119610
AA Change: I178V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113702
Gene: ENSMUSG00000030222
AA Change: I178V
| 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 |
|
| Meta Mutation Damage Score |
0.1427 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (46/46) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,245 (GRCm39) |
D240G |
possibly damaging |
Het |
| Aplf |
T |
C |
6: 87,607,046 (GRCm39) |
D456G |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,489 (GRCm39) |
F445S |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,709 (GRCm39) |
R214C |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,402,109 (GRCm39) |
I1101K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,523,983 (GRCm39) |
V728A |
probably benign |
Het |
| Gosr1 |
T |
A |
11: 76,625,392 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80 |
T |
A |
2: 119,273,073 (GRCm39) |
T468S |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,397 (GRCm39) |
K134E |
probably damaging |
Het |
| Klhl17 |
C |
T |
4: 156,318,344 (GRCm39) |
V93I |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,519,393 (GRCm39) |
P2239Q |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,173 (GRCm39) |
F161L |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,537,246 (GRCm39) |
I14F |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,813,974 (GRCm39) |
|
probably null |
Het |
| Musk |
A |
C |
4: 58,366,899 (GRCm39) |
I506L |
probably damaging |
Het |
| Mydgf |
C |
T |
17: 56,483,953 (GRCm39) |
V158I |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,963,071 (GRCm39) |
P459S |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,427 (GRCm39) |
K272* |
probably null |
Het |
| Or2w6 |
A |
T |
13: 21,842,794 (GRCm39) |
I233N |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,992 (GRCm39) |
V19A |
probably benign |
Het |
| Pnmt |
T |
A |
11: 98,277,477 (GRCm39) |
L7Q |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,037,293 (GRCm39) |
S13P |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,910,194 (GRCm39) |
S199P |
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,001,305 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,712 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,146 (GRCm39) |
T250A |
possibly damaging |
Het |
| Sv2a |
A |
G |
3: 96,098,071 (GRCm39) |
N558S |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,401,305 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,405,561 (GRCm39) |
Y46C |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,578 (GRCm39) |
S668P |
possibly damaging |
Het |
| Vwa1 |
C |
A |
4: 155,855,057 (GRCm39) |
A326S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,752,115 (GRCm39) |
M327T |
probably benign |
Het |
|
| Other mutations in Rerg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01799:Rerg
|
APN |
6 |
137,033,376 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGGCTGCAGAAGATACTC -3'
(R):5'- CTCCAGACAAGTGAGCACAG -3'
Sequencing Primer
(F):5'- CAGAGAATTTCCCAGCATATAGTGG -3'
(R):5'- AGCTGGCGACGGAACTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation