Incidental Mutation 'IGL02694:Rassf2'
| ID |
303867 |
| 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 # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
131834770-131872336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131851641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 34
(Y34N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028814]
[ENSMUST00000103182]
[ENSMUST00000139047]
[ENSMUST00000140791]
|
| AlphaFold |
Q8BMS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028814
AA Change: Y34N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: Y34N
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
174 |
265 |
5.33e-18 |
SMART |
|
coiled coil region
|
292 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103182
AA Change: Y34N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: Y34N
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
174 |
265 |
5.33e-18 |
SMART |
|
Pfam:Nore1-SARAH
|
277 |
316 |
3.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139047
AA Change: Y34N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120194
Gene: ENSMUSG00000027339
AA Change: Y34N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RA
|
174 |
202 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155829
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
| Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
| Other mutations in Rassf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01991:Rassf2
|
APN |
2 |
131,842,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02142:Rassf2
|
APN |
2 |
131,838,353 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
2015-04-16 |
Incidental Mutation