Incidental Mutation 'R7127:Rasef'
ID |
552377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasef
|
Ensembl Gene |
ENSMUSG00000043003 |
Gene Name |
RAS and EF hand domain containing |
Synonyms |
RAB45 |
MMRRC Submission |
045246-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7127 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73662369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 194
(S194T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
AlphaFold |
Q5RI75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058292
AA Change: S266T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062771 Gene: ENSMUSG00000043003 AA Change: S266T
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: S194T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099901 Gene: ENSMUSG00000043003 AA Change: S194T
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
179 |
N/A |
INTRINSIC |
RAB
|
357 |
526 |
4.94e-69 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222414
AA Change: S347T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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 |
Abca15 |
C |
T |
7: 119,931,825 (GRCm39) |
T26I |
probably benign |
Het |
Adam5 |
A |
T |
8: 25,300,797 (GRCm39) |
I244N |
probably damaging |
Het |
Adam7 |
A |
G |
14: 68,752,218 (GRCm39) |
|
probably null |
Het |
Aox4 |
T |
A |
1: 58,268,033 (GRCm39) |
N204K |
probably benign |
Het |
Arl13b |
C |
T |
16: 62,622,102 (GRCm39) |
G397D |
probably damaging |
Het |
AU041133 |
T |
C |
10: 81,986,700 (GRCm39) |
F118L |
probably benign |
Het |
Brinp1 |
C |
T |
4: 68,711,260 (GRCm39) |
R316H |
probably benign |
Het |
Cabcoco1 |
C |
T |
10: 68,272,160 (GRCm39) |
V268I |
probably benign |
Het |
Car15 |
T |
C |
16: 17,656,060 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,576,421 (GRCm39) |
D89E |
possibly damaging |
Het |
Cckar |
T |
A |
5: 53,863,817 (GRCm39) |
Y48F |
probably damaging |
Het |
Cdyl |
T |
A |
13: 36,040,651 (GRCm39) |
S282T |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,711,806 (GRCm39) |
T730A |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,695 (GRCm39) |
S318P |
possibly damaging |
Het |
Depdc1b |
T |
C |
13: 108,460,462 (GRCm39) |
F24S |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,430 (GRCm39) |
G565D |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,003,529 (GRCm39) |
Y1073* |
probably null |
Het |
Epg5 |
A |
T |
18: 78,072,140 (GRCm39) |
N2384I |
probably damaging |
Het |
Fam171b |
A |
G |
2: 83,710,110 (GRCm39) |
D594G |
probably benign |
Het |
Flad1 |
A |
G |
3: 89,310,725 (GRCm39) |
Y441H |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,636,703 (GRCm39) |
T2150A |
probably benign |
Het |
Fnta |
C |
A |
8: 26,497,231 (GRCm39) |
R206L |
probably damaging |
Het |
Gadd45b |
A |
T |
10: 80,766,999 (GRCm39) |
M95L |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,165,578 (GRCm39) |
H358Q |
probably benign |
Het |
Glipr1l3 |
C |
A |
10: 111,983,995 (GRCm39) |
G157V |
probably damaging |
Het |
Hoxc13 |
T |
C |
15: 102,829,903 (GRCm39) |
I94T |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,272,779 (GRCm39) |
D361G |
probably damaging |
Het |
Igkv3-4 |
T |
A |
6: 70,649,155 (GRCm39) |
Y51* |
probably null |
Het |
Kif26a |
C |
T |
12: 112,144,579 (GRCm39) |
P1611L |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
Lrrc8d |
T |
C |
5: 105,960,829 (GRCm39) |
V413A |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,635,774 (GRCm39) |
R86Q |
probably damaging |
Het |
Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,936 (GRCm39) |
C177S |
probably damaging |
Het |
Plk3 |
A |
T |
4: 116,987,767 (GRCm39) |
V429E |
probably benign |
Het |
Plrg1 |
C |
T |
3: 82,967,222 (GRCm39) |
P131L |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,831 (GRCm39) |
R318* |
probably null |
Het |
Rab34 |
A |
T |
11: 78,082,056 (GRCm39) |
K152* |
probably null |
Het |
Rcc1 |
A |
G |
4: 132,062,107 (GRCm39) |
S269P |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,229,443 (GRCm39) |
F830L |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
Scin |
A |
G |
12: 40,155,071 (GRCm39) |
I174T |
possibly damaging |
Het |
Serpinb8 |
A |
G |
1: 107,525,200 (GRCm39) |
M1V |
probably null |
Het |
Smok3c |
A |
T |
5: 138,062,971 (GRCm39) |
I153F |
probably damaging |
Het |
Spen |
G |
A |
4: 141,203,419 (GRCm39) |
S1736L |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,426,446 (GRCm39) |
M155K |
probably benign |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Sun2 |
T |
C |
15: 79,612,100 (GRCm39) |
I528M |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
Taok2 |
G |
T |
7: 126,466,326 (GRCm39) |
A831E |
possibly damaging |
Het |
Tas2r126 |
T |
C |
6: 42,411,739 (GRCm39) |
F91L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,031,922 (GRCm39) |
S279P |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,657,148 (GRCm39) |
L696H |
probably damaging |
Het |
Trank1 |
T |
G |
9: 111,194,864 (GRCm39) |
S963A |
possibly damaging |
Het |
Trf |
A |
G |
9: 103,102,326 (GRCm39) |
V184A |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,903,406 (GRCm39) |
M231K |
possibly damaging |
Het |
Tuba1a |
T |
G |
15: 98,849,455 (GRCm39) |
T41P |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,478,104 (GRCm39) |
Q3573R |
probably damaging |
Het |
Zfp141 |
G |
A |
7: 42,124,853 (GRCm39) |
H540Y |
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 |
|
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 |
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'- TAATGCAACAGCACAGGACG -3'
(R):5'- GGTCTGTTATGCTTCCTGGAAC -3'
Sequencing Primer
(F):5'- GGCATGGATTGACATACACAAAATC -3'
(R):5'- GCTTCCTGGAACTTTCAAAATGATG -3'
|
Posted On |
2019-05-15 |