Incidental Mutation 'R6414:Rasef'
ID |
514848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasef
|
Ensembl Gene |
ENSMUSG00000043003 |
Gene Name |
RAS and EF hand domain containing |
Synonyms |
RAB45 |
MMRRC Submission |
044556-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R6414 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73658818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 463
(V463M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
AlphaFold |
Q5RI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058292
AA Change: V382M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000062771 Gene: ENSMUSG00000043003 AA Change: V382M
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
AA Change: V310M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099901 Gene: ENSMUSG00000043003 AA Change: V310M
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
AA Change: V463M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (57/58) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
probably damaging |
Het |
Zranb3 |
A |
G |
1: 127,968,694 (GRCm39) |
Y74H |
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 |
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 |
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'- GCCTTCTGAGATGTGACCTTG -3'
(R):5'- GAGGGAGTCTGCTTAGTAACC -3'
Sequencing Primer
(F):5'- ATCCACCATGTCTGTCTAGAAGG -3'
(R):5'- GGAGTCTGCTTAGTAACCACACTG -3'
|
Posted On |
2018-05-04 |