Incidental Mutation 'R0035:Rasef'
| ID |
19401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasef
|
| Ensembl Gene |
ENSMUSG00000043003 |
| Gene Name |
RAS and EF hand domain containing |
| Synonyms |
RAB45 |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 73681091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
| AlphaFold |
Q5RI75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058292
|
| SMART Domains |
Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
| 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 benign
Transcript: ENSMUST00000102837
|
| SMART Domains |
Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
179 |
N/A |
INTRINSIC |
|
RAB
|
357 |
526 |
4.94e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222414
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
99% (70/71) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Aadacl4 |
A |
G |
4: 144,344,511 (GRCm39) |
T96A |
probably damaging |
Het |
| Abcb6 |
A |
G |
1: 75,151,651 (GRCm39) |
V473A |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,733,385 (GRCm39) |
K273N |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,571,217 (GRCm39) |
V1142D |
probably benign |
Het |
| Akna |
T |
A |
4: 63,300,682 (GRCm39) |
H591L |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,879,679 (GRCm39) |
M558K |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,424,480 (GRCm39) |
V607A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,747 (GRCm39) |
Y2708* |
probably null |
Het |
| Cass4 |
C |
T |
2: 172,258,412 (GRCm39) |
P137S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,508 (GRCm39) |
V31A |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,129,969 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,650,474 (GRCm39) |
G577R |
unknown |
Het |
| Defa21 |
T |
A |
8: 21,515,784 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Golph3 |
A |
T |
15: 12,339,776 (GRCm39) |
E96D |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,122,942 (GRCm39) |
V151A |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,746,860 (GRCm39) |
I144S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il25 |
A |
G |
14: 55,170,553 (GRCm39) |
E42G |
probably damaging |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,106,306 (GRCm39) |
A149V |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,690,619 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,948,734 (GRCm39) |
D832E |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,846 (GRCm39) |
S292P |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Me3 |
C |
A |
7: 89,500,967 (GRCm39) |
H559Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,541 (GRCm39) |
F574L |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,836,553 (GRCm39) |
S431P |
probably damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,880,379 (GRCm39) |
|
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,395 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or5k1 |
A |
T |
16: 58,617,485 (GRCm39) |
C241* |
probably null |
Het |
| Osbp2 |
C |
T |
11: 3,667,997 (GRCm39) |
|
probably benign |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,414,080 (GRCm39) |
I18N |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,844 (GRCm39) |
K1289N |
probably benign |
Het |
| Tspyl3 |
A |
G |
2: 153,066,240 (GRCm39) |
S333P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,089,085 (GRCm39) |
V347I |
probably benign |
Het |
| Usp17le |
G |
T |
7: 104,418,269 (GRCm39) |
S291* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,225,224 (GRCm39) |
S619T |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,145,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,569,413 (GRCm39) |
E102G |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,204,770 (GRCm39) |
V85I |
possibly damaging |
Het |
| Wwp1 |
A |
C |
4: 19,631,116 (GRCm39) |
I639R |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,551,101 (GRCm39) |
T1001A |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
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 |
|
|
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 |
|
R1585:Rasef
|
UTSW |
4 |
73,658,574 (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'- ACTCTCTGCTAGAAACAGAGGAGTCAC -3'
(R):5'- TCCTGAGACAACACAGTGTATAGCCC -3'
Sequencing Primer
(F):5'- AGGAGTCACTCAAAGCACTTAG -3'
(R):5'- AGGTTTCAAGTCCAGCACTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation