Incidental Mutation 'R1585:Rasef'
ID |
177418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasef
|
Ensembl Gene |
ENSMUSG00000043003 |
Gene Name |
RAS and EF hand domain containing |
Synonyms |
RAB45 |
MMRRC Submission |
039622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R1585 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73658574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
AlphaFold |
Q5RI75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058292
AA Change: V432A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062771 Gene: ENSMUSG00000043003 AA Change: V432A
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
coiled coil region
|
55 |
251 |
N/A |
INTRINSIC |
RAB
|
429 |
598 |
4.94e-69 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102837
AA Change: V360A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099901 Gene: ENSMUSG00000043003 AA Change: V360A
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
179 |
N/A |
INTRINSIC |
RAB
|
357 |
526 |
4.94e-69 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222414
AA Change: V513A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.7498 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
Validation Efficiency |
95% (81/85) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
A |
10: 28,858,518 (GRCm39) |
I50F |
possibly damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,377,175 (GRCm39) |
|
probably benign |
Het |
Aadat |
A |
T |
8: 60,979,714 (GRCm39) |
D192V |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,303,640 (GRCm39) |
D150G |
probably benign |
Het |
Amigo3 |
A |
T |
9: 107,931,231 (GRCm39) |
N218I |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,827,373 (GRCm39) |
S60P |
probably benign |
Het |
Apol7e |
G |
A |
15: 77,602,029 (GRCm39) |
S209N |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,510,632 (GRCm39) |
Y234* |
probably null |
Het |
Bcam |
A |
T |
7: 19,494,111 (GRCm39) |
D393E |
probably damaging |
Het |
Card9 |
A |
G |
2: 26,244,398 (GRCm39) |
L444P |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,586,780 (GRCm39) |
E886G |
unknown |
Het |
Ccnb2 |
A |
T |
9: 70,317,559 (GRCm39) |
|
probably null |
Het |
Cd276 |
T |
C |
9: 58,442,838 (GRCm39) |
S206G |
probably damaging |
Het |
Cds1 |
T |
A |
5: 101,965,828 (GRCm39) |
|
probably benign |
Het |
Cfap96 |
G |
A |
8: 46,409,515 (GRCm39) |
S268L |
probably benign |
Het |
Chuk |
T |
C |
19: 44,065,812 (GRCm39) |
S661G |
possibly damaging |
Het |
Col17a1 |
T |
C |
19: 47,639,276 (GRCm39) |
N1090D |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,367,026 (GRCm39) |
|
probably null |
Het |
Crispld1 |
G |
T |
1: 17,821,024 (GRCm39) |
V355F |
possibly damaging |
Het |
Cspg4 |
A |
T |
9: 56,806,151 (GRCm39) |
R2321W |
probably damaging |
Het |
Dner |
T |
C |
1: 84,563,177 (GRCm39) |
T61A |
probably benign |
Het |
Dnmt3a |
A |
T |
12: 3,951,660 (GRCm39) |
Y679F |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,798,241 (GRCm39) |
|
probably benign |
Het |
Eif3l |
T |
C |
15: 78,968,381 (GRCm39) |
S217P |
possibly damaging |
Het |
Fbxo42 |
T |
A |
4: 140,925,417 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,957 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
T |
A |
5: 4,806,278 (GRCm39) |
I435F |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,602,207 (GRCm39) |
V647I |
possibly damaging |
Het |
Gm14496 |
T |
C |
2: 181,638,002 (GRCm39) |
S359P |
possibly damaging |
Het |
Gm5218 |
C |
A |
15: 81,383,741 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnph3 |
A |
G |
10: 62,851,579 (GRCm39) |
|
probably null |
Het |
Hsd17b12 |
G |
T |
2: 93,864,321 (GRCm39) |
T262K |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,237,838 (GRCm39) |
P781R |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,768,207 (GRCm39) |
S373T |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,942,345 (GRCm39) |
D612G |
probably damaging |
Het |
Ldb1 |
T |
C |
19: 46,022,903 (GRCm39) |
T261A |
probably damaging |
Het |
Lep |
C |
A |
6: 29,069,089 (GRCm39) |
H47N |
possibly damaging |
Het |
Lrrtm2 |
A |
T |
18: 35,346,428 (GRCm39) |
S291R |
possibly damaging |
Het |
Ncor2 |
T |
C |
5: 125,162,062 (GRCm39) |
Q404R |
unknown |
Het |
Nlrp4d |
T |
C |
7: 10,116,437 (GRCm39) |
H148R |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,258,093 (GRCm39) |
D570E |
probably benign |
Het |
Nphp3 |
G |
A |
9: 103,886,413 (GRCm39) |
V202I |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,548,073 (GRCm39) |
N159K |
probably benign |
Het |
Or4a69 |
T |
A |
2: 89,313,315 (GRCm39) |
T55S |
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,746 (GRCm39) |
V108D |
possibly damaging |
Het |
Or51f2 |
G |
A |
7: 102,526,980 (GRCm39) |
V218I |
probably benign |
Het |
Or52a24 |
A |
T |
7: 103,381,585 (GRCm39) |
T151S |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,716 (GRCm39) |
H244L |
probably damaging |
Het |
Pcolce |
T |
A |
5: 137,608,769 (GRCm39) |
R13* |
probably null |
Het |
Pdgfra |
A |
G |
5: 75,353,264 (GRCm39) |
Y1018C |
probably damaging |
Het |
Prima1 |
A |
G |
12: 103,201,854 (GRCm39) |
S74P |
probably damaging |
Het |
Prl7c1 |
A |
G |
13: 27,962,838 (GRCm39) |
L55P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,121,227 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
C |
4: 121,005,488 (GRCm39) |
E1164G |
probably benign |
Het |
Rnf213 |
A |
T |
11: 119,354,171 (GRCm39) |
N4016I |
probably damaging |
Het |
Sae1 |
C |
T |
7: 16,064,537 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,601,848 (GRCm39) |
D207E |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,380,464 (GRCm39) |
D33E |
unknown |
Het |
Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
Slc30a6 |
T |
A |
17: 74,725,610 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,242,669 (GRCm39) |
L346P |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,596,660 (GRCm39) |
Q1473L |
probably damaging |
Het |
St3gal3 |
G |
T |
4: 117,817,204 (GRCm39) |
A44D |
possibly damaging |
Het |
Sv2b |
G |
T |
7: 74,797,425 (GRCm39) |
T323K |
probably damaging |
Het |
Sycp2 |
T |
A |
2: 177,993,461 (GRCm39) |
N1228I |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,910,030 (GRCm39) |
M190L |
probably benign |
Het |
Tnrc6a |
G |
A |
7: 122,776,098 (GRCm39) |
V1190I |
probably benign |
Het |
Utrn |
A |
T |
10: 12,312,029 (GRCm39) |
I673K |
possibly damaging |
Het |
Vmn2r114 |
C |
T |
17: 23,510,675 (GRCm39) |
V602M |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 64,057,989 (GRCm39) |
I1273L |
probably benign |
Het |
Zfp618 |
T |
C |
4: 63,051,175 (GRCm39) |
L652P |
probably damaging |
Het |
Zfp804a |
G |
A |
2: 81,884,095 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rasef |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Rasef
|
APN |
4 |
73,689,662 (GRCm39) |
nonsense |
probably null |
|
IGL01329:Rasef
|
APN |
4 |
73,645,882 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01517:Rasef
|
APN |
4 |
73,688,059 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02465:Rasef
|
APN |
4 |
73,652,725 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02676:Rasef
|
APN |
4 |
73,677,966 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03137:Rasef
|
APN |
4 |
73,652,720 (GRCm39) |
nonsense |
probably null |
|
IGL03403:Rasef
|
APN |
4 |
73,652,771 (GRCm39) |
missense |
probably damaging |
1.00 |
BB001:Rasef
|
UTSW |
4 |
73,659,166 (GRCm39) |
critical splice donor site |
probably null |
|
BB011:Rasef
|
UTSW |
4 |
73,659,166 (GRCm39) |
critical splice donor site |
probably null |
|
P0033:Rasef
|
UTSW |
4 |
73,668,089 (GRCm39) |
missense |
probably benign |
0.26 |
R0035:Rasef
|
UTSW |
4 |
73,681,091 (GRCm39) |
splice site |
probably benign |
|
R0035:Rasef
|
UTSW |
4 |
73,681,091 (GRCm39) |
splice site |
probably benign |
|
R0317:Rasef
|
UTSW |
4 |
73,666,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Rasef
|
UTSW |
4 |
73,652,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R0987:Rasef
|
UTSW |
4 |
73,652,721 (GRCm39) |
nonsense |
probably null |
|
R1115:Rasef
|
UTSW |
4 |
73,666,841 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1511:Rasef
|
UTSW |
4 |
73,653,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Rasef
|
UTSW |
4 |
73,652,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Rasef
|
UTSW |
4 |
73,662,301 (GRCm39) |
nonsense |
probably null |
|
R1918:Rasef
|
UTSW |
4 |
73,662,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1919:Rasef
|
UTSW |
4 |
73,662,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3819:Rasef
|
UTSW |
4 |
73,677,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R3891:Rasef
|
UTSW |
4 |
73,698,634 (GRCm39) |
missense |
probably benign |
0.03 |
R3892:Rasef
|
UTSW |
4 |
73,698,634 (GRCm39) |
missense |
probably benign |
0.03 |
R4344:Rasef
|
UTSW |
4 |
73,663,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Rasef
|
UTSW |
4 |
73,652,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R4492:Rasef
|
UTSW |
4 |
73,652,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R4594:Rasef
|
UTSW |
4 |
73,698,626 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4915:Rasef
|
UTSW |
4 |
73,649,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Rasef
|
UTSW |
4 |
73,654,004 (GRCm39) |
missense |
probably null |
1.00 |
R5359:Rasef
|
UTSW |
4 |
73,689,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Rasef
|
UTSW |
4 |
73,659,208 (GRCm39) |
nonsense |
probably null |
|
R5693:Rasef
|
UTSW |
4 |
73,688,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R6414:Rasef
|
UTSW |
4 |
73,658,818 (GRCm39) |
missense |
probably benign |
0.13 |
R6543:Rasef
|
UTSW |
4 |
73,698,756 (GRCm39) |
intron |
probably benign |
|
R6593:Rasef
|
UTSW |
4 |
73,663,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Rasef
|
UTSW |
4 |
73,698,626 (GRCm39) |
missense |
probably benign |
0.01 |
R7083:Rasef
|
UTSW |
4 |
73,709,221 (GRCm39) |
missense |
probably benign |
0.26 |
R7106:Rasef
|
UTSW |
4 |
73,645,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R7127:Rasef
|
UTSW |
4 |
73,662,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Rasef
|
UTSW |
4 |
73,662,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R7767:Rasef
|
UTSW |
4 |
73,652,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R7891:Rasef
|
UTSW |
4 |
73,709,201 (GRCm39) |
missense |
probably benign |
|
R7891:Rasef
|
UTSW |
4 |
73,677,935 (GRCm39) |
missense |
probably benign |
0.00 |
R7924:Rasef
|
UTSW |
4 |
73,659,166 (GRCm39) |
critical splice donor site |
probably null |
|
R7997:Rasef
|
UTSW |
4 |
73,658,799 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8554:Rasef
|
UTSW |
4 |
73,645,844 (GRCm39) |
missense |
probably benign |
0.03 |
R8832:Rasef
|
UTSW |
4 |
73,698,558 (GRCm39) |
intron |
probably benign |
|
R8850:Rasef
|
UTSW |
4 |
73,645,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R8985:Rasef
|
UTSW |
4 |
73,708,960 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9093:Rasef
|
UTSW |
4 |
73,698,583 (GRCm39) |
missense |
probably benign |
0.00 |
R9179:Rasef
|
UTSW |
4 |
73,662,356 (GRCm39) |
missense |
probably damaging |
0.97 |
R9199:Rasef
|
UTSW |
4 |
73,658,625 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9300:Rasef
|
UTSW |
4 |
73,659,393 (GRCm39) |
missense |
probably benign |
|
R9310:Rasef
|
UTSW |
4 |
73,653,956 (GRCm39) |
critical splice donor site |
probably null |
|
R9415:Rasef
|
UTSW |
4 |
73,645,882 (GRCm39) |
missense |
probably benign |
0.00 |
R9482:Rasef
|
UTSW |
4 |
73,708,933 (GRCm39) |
missense |
probably benign |
0.00 |
R9719:Rasef
|
UTSW |
4 |
73,688,102 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTTGATTCAACGGTCCACAGAG -3'
(R):5'- AGTTCCTCCAGAAAGCCCATCTCAG -3'
Sequencing Primer
(F):5'- GATTCAACGGTCCACAGAGATTTAC -3'
(R):5'- CAGCTCTTTCACTTCAGGTAGGTAG -3'
|
Posted On |
2014-04-24 |