Incidental Mutation 'IGL01991:Rassf2'
| ID |
182883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rassf2
|
| Ensembl Gene |
ENSMUSG00000027339 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 2 |
| Synonyms |
3830431H01Rik, 9030412M04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
131834770-131872336 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 131842352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028814]
[ENSMUST00000103182]
[ENSMUST00000139047]
|
| AlphaFold |
Q8BMS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028814
|
| SMART Domains |
Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
174 |
265 |
5.33e-18 |
SMART |
|
coiled coil region
|
292 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103182
|
| SMART Domains |
Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
174 |
265 |
5.33e-18 |
SMART |
|
Pfam:Nore1-SARAH
|
277 |
316 |
3.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139047
|
| SMART Domains |
Protein: ENSMUSP00000120194
Gene: ENSMUSG00000027339
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RA
|
174 |
202 |
2e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155829
|
| Meta Mutation Damage Score |
0.9585 |
| 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 protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone defects and hematopoeitic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
| Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
| Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
| Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
Het |
|
| Other mutations in Rassf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Rassf2
|
APN |
2 |
131,838,353 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02694:Rassf2
|
APN |
2 |
131,851,641 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02727:Rassf2
|
APN |
2 |
131,846,307 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0722:Rassf2
|
UTSW |
2 |
131,844,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2326:Rassf2
|
UTSW |
2 |
131,842,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2508:Rassf2
|
UTSW |
2 |
131,840,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3808:Rassf2
|
UTSW |
2 |
131,840,180 (GRCm39) |
splice site |
probably null |
|
|
R3809:Rassf2
|
UTSW |
2 |
131,840,180 (GRCm39) |
splice site |
probably null |
|
|
R4077:Rassf2
|
UTSW |
2 |
131,854,522 (GRCm39) |
missense |
probably benign |
|
|
R4085:Rassf2
|
UTSW |
2 |
131,846,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4285:Rassf2
|
UTSW |
2 |
131,847,314 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4721:Rassf2
|
UTSW |
2 |
131,846,358 (GRCm39) |
missense |
probably benign |
|
|
R4762:Rassf2
|
UTSW |
2 |
131,844,783 (GRCm39) |
unclassified |
probably benign |
|
|
R5012:Rassf2
|
UTSW |
2 |
131,851,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Rassf2
|
UTSW |
2 |
131,840,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6788:Rassf2
|
UTSW |
2 |
131,844,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Rassf2
|
UTSW |
2 |
131,838,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Rassf2
|
UTSW |
2 |
131,847,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9332:Rassf2
|
UTSW |
2 |
131,846,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Rassf2
|
UTSW |
2 |
131,840,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rassf2
|
UTSW |
2 |
131,846,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation