Incidental Mutation 'R9719:Rasef'
| ID |
730660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasef
|
| Ensembl Gene |
ENSMUSG00000043003 |
| Gene Name |
RAS and EF hand domain containing |
| Synonyms |
RAB45 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R9719 (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 G
at 73688102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 17
(I17T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058292]
[ENSMUST00000102837]
[ENSMUST00000222414]
|
| AlphaFold |
Q5RI75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058292
AA Change: I89T
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: I89T
| 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 |
possibly damaging
Transcript: ENSMUST00000102837
AA Change: I17T
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: I17T
| 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: I170T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
A |
1: 87,016,136 (GRCm39) |
Q241L |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,464 (GRCm39) |
N4144K |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,090,516 (GRCm39) |
H413R |
probably benign |
Het |
| Ccdc179 |
T |
C |
7: 51,664,612 (GRCm39) |
T28A |
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,835 (GRCm39) |
D735A |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,949,432 (GRCm39) |
D27N |
unknown |
Het |
| Colgalt1 |
A |
G |
8: 72,073,456 (GRCm39) |
E359G |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,793,148 (GRCm39) |
I261N |
probably benign |
Het |
| Cyyr1 |
A |
T |
16: 85,219,203 (GRCm39) |
L68Q |
unknown |
Het |
| Dgkz |
T |
A |
2: 91,768,911 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,867,912 (GRCm39) |
E3947V |
unknown |
Het |
| Eif2ak2 |
C |
A |
17: 79,162,783 (GRCm39) |
D472Y |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,755,539 (GRCm39) |
T429A |
possibly damaging |
Het |
| Fen1 |
G |
A |
19: 10,178,016 (GRCm39) |
H143Y |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,113 (GRCm39) |
R58S |
unknown |
Het |
| Hspa1b |
T |
C |
17: 35,176,467 (GRCm39) |
D506G |
probably damaging |
Het |
| Inhca |
G |
T |
9: 103,132,014 (GRCm39) |
P569H |
probably benign |
Het |
| Kcna7 |
A |
G |
7: 45,056,390 (GRCm39) |
D202G |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mal |
C |
T |
2: 127,498,025 (GRCm39) |
S10N |
possibly damaging |
Het |
| Mgat2 |
T |
A |
12: 69,232,115 (GRCm39) |
W230R |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,436,493 (GRCm39) |
T883S |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,249,526 (GRCm39) |
S277P |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,916,091 (GRCm39) |
W341* |
probably null |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,454 (GRCm39) |
M292R |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,180,146 (GRCm39) |
I225L |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,368 (GRCm39) |
S65P |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,169,928 (GRCm39) |
N6K |
|
Het |
| Or5g26 |
T |
A |
2: 85,494,608 (GRCm39) |
I57F |
probably benign |
Het |
| Or6z1 |
C |
A |
7: 6,504,999 (GRCm39) |
M75I |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,583,484 (GRCm39) |
M777K |
probably benign |
Het |
| Rptor |
A |
T |
11: 119,781,940 (GRCm39) |
D1089V |
probably benign |
Het |
| Scel |
A |
T |
14: 103,809,442 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
T |
5: 74,386,004 (GRCm39) |
L605Q |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,440 (GRCm39) |
E1729G |
probably damaging |
Het |
| Spata31e2 |
C |
G |
1: 26,722,820 (GRCm39) |
E787Q |
probably benign |
Het |
| Spout1 |
A |
G |
2: 30,065,813 (GRCm39) |
Y243H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,276,601 (GRCm39) |
F1765S |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,191,803 (GRCm39) |
V877E |
possibly damaging |
Het |
| Txn2 |
T |
C |
15: 77,812,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,331 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,449 (GRCm39) |
T53I |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,127,553 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps25 |
A |
G |
11: 101,146,853 (GRCm39) |
D91G |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,015,224 (GRCm39) |
L396F |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,304 (GRCm39) |
C665S |
possibly damaging |
Het |
| Zfp26 |
T |
C |
9: 20,347,861 (GRCm39) |
E901G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCCAACACGTTAGCAC -3'
(R):5'- AGGTTTGTCACTCAATTGTAGCAG -3'
Sequencing Primer
(F):5'- GTTAGCACCAAGAAAAGCACCTTTAG -3'
(R):5'- TTTTACACCCAAGTAGTCACACTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation