Incidental Mutation 'R7891:Rasef'
| ID |
609324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasef
|
| Ensembl Gene |
ENSMUSG00000043003 |
| Gene Name |
RAS and EF hand domain containing |
| Synonyms |
RAB45 |
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73677935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 97
(T97I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
| AlphaFold |
Q5RI75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058292
AA Change: T169I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: T169I
| 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: T97I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: T97I
| 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: T250I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 164,920,864 (GRCm39) |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 48,910,543 (GRCm39) |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,054,098 (GRCm39) |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 (GRCm39) |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,681,305 (GRCm39) |
A612V |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,599,961 (GRCm39) |
D115E |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,197,513 (GRCm39) |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,600 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,824,139 (GRCm39) |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,717,442 (GRCm39) |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,146 (GRCm39) |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,084,557 (GRCm39) |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,939 (GRCm39) |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,931,263 (GRCm39) |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,609,590 (GRCm39) |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,123,387 (GRCm39) |
N130S |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,306,964 (GRCm39) |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 (GRCm39) |
E136K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,478 (GRCm39) |
S1100G |
probably benign |
Het |
| Gask1b |
G |
A |
3: 79,793,591 (GRCm39) |
A20T |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,132,972 (GRCm39) |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,434 (GRCm39) |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,696 (GRCm39) |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,472,918 (GRCm39) |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,468,940 (GRCm39) |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,235,832 (GRCm39) |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,840,517 (GRCm39) |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,505,109 (GRCm39) |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,220,742 (GRCm39) |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,428,967 (GRCm39) |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,299,192 (GRCm39) |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,299,591 (GRCm39) |
L1309P |
probably benign |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,421 (GRCm39) |
T99S |
possibly damaging |
Het |
| Or13c25 |
C |
T |
4: 52,911,663 (GRCm39) |
V44I |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,289 (GRCm39) |
V121I |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,049,141 (GRCm39) |
M284T |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,848,244 (GRCm39) |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,577,714 (GRCm39) |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,144,297 (GRCm39) |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,552,232 (GRCm39) |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,714,748 (GRCm39) |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,069,434 (GRCm39) |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,334,443 (GRCm39) |
I955M |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,588,995 (GRCm39) |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,851,328 (GRCm39) |
A721T |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,139 (GRCm39) |
C1330R |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,349,915 (GRCm39) |
D560G |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,660 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,083 (GRCm39) |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,754,074 (GRCm39) |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,616,510 (GRCm39) |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,280,059 (GRCm39) |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,422 (GRCm39) |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,491,036 (GRCm39) |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,668,003 (GRCm39) |
S63R |
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 |
|
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 |
|
|
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'- TGCCACAAGTATAGGCATGC -3'
(R):5'- GGTTTTCAAATCAGCTTTCCCAGAG -3'
Sequencing Primer
(F):5'- AAGCAGTGTTCCTCATAGGC -3'
(R):5'- ATCAGCTTTCCCAGAGTTTTAAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation