Incidental Mutation 'R4344:Rasef'
| ID |
324254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasef
|
| Ensembl Gene |
ENSMUSG00000043003 |
| Gene Name |
RAS and EF hand domain containing |
| Synonyms |
RAB45 |
| MMRRC Submission |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73663326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 167
(H167L)
|
| 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: H239L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: H239L
| 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: H167L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: H167L
| 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: H320L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.0952 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
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 |
|
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'- AGTCACACATTTGGCATCTTTC -3'
(R):5'- TCCCAGATTGTCAGGAAAGCAAAC -3'
Sequencing Primer
(F):5'- CATTTCTTTATACAAATGGGCAGACC -3'
(R):5'- GATTGTCAGGAAAGCAAACTAATTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation