Incidental Mutation 'R9179:Rasef'
| ID |
696878 |
| 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: 0.078)
|
| Stock # |
R9179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
73632816-73709231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73662356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 198
(T198I)
|
| 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: T270I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: T270I
| 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: T198I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: T198I
| 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: T351I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| 1700013D24Rik |
T |
A |
6: 124,333,882 (GRCm39) |
M33L |
probably benign |
Het |
| 2310003L06Rik |
A |
G |
5: 88,119,890 (GRCm39) |
T216A |
probably benign |
Het |
| 9330161L09Rik |
A |
C |
12: 103,373,837 (GRCm39) |
C12G |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,788,929 (GRCm39) |
F57I |
possibly damaging |
Het |
| Amotl1 |
C |
A |
9: 14,461,787 (GRCm39) |
A809S |
possibly damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,414,011 (GRCm39) |
M121I |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,404,453 (GRCm39) |
D1261G |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,469,658 (GRCm39) |
T502A |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Ccdc102a |
A |
G |
8: 95,639,748 (GRCm39) |
V182A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,153,664 (GRCm39) |
A2309T |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,676,064 (GRCm39) |
N210K |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,500,054 (GRCm39) |
S147P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,600,912 (GRCm39) |
S752P |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,654 (GRCm39) |
M235K |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,185 (GRCm39) |
D336G |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,525 (GRCm39) |
I631T |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,353,591 (GRCm39) |
C199Y |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,273,495 (GRCm39) |
L360Q |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,708 (GRCm39) |
T190A |
probably benign |
Het |
| Fgfr3 |
G |
T |
5: 33,887,316 (GRCm39) |
V212L |
possibly damaging |
Het |
| Flnb |
C |
A |
14: 7,887,541 (GRCm38) |
C450* |
probably null |
Het |
| Gls |
T |
C |
1: 52,239,015 (GRCm39) |
Y362C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Gns |
T |
C |
10: 121,216,080 (GRCm39) |
F276L |
|
Het |
| Grin2d |
A |
G |
7: 45,506,176 (GRCm39) |
S572P |
probably damaging |
Het |
| Impa2 |
C |
T |
18: 67,422,473 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
T |
7: 126,905,883 (GRCm39) |
D355V |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,297,521 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
A |
7: 43,618,715 (GRCm39) |
C31S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,277,312 (GRCm39) |
V354E |
probably benign |
Het |
| Mettl21c |
T |
A |
1: 44,049,142 (GRCm39) |
Y135F |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,740,303 (GRCm39) |
T77A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,209,274 (GRCm39) |
N30D |
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,126 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,494 (GRCm39) |
K87* |
probably null |
Het |
| Otog |
C |
A |
7: 45,937,885 (GRCm39) |
P1865T |
possibly damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,873,140 (GRCm39) |
S137P |
probably damaging |
Het |
| Pilrb1 |
C |
A |
5: 137,855,657 (GRCm39) |
W78L |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,214,085 (GRCm39) |
Y832C |
possibly damaging |
Het |
| Ppan |
C |
A |
9: 20,803,199 (GRCm39) |
Q424K |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,087,782 (GRCm39) |
N544K |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,294 (GRCm39) |
E270G |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,961,155 (GRCm39) |
D246G |
possibly damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,463 (GRCm39) |
H603R |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,482,490 (GRCm39) |
R179G |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,811,836 (GRCm39) |
L288P |
possibly damaging |
Het |
| Sel1l |
A |
T |
12: 91,778,726 (GRCm39) |
D696E |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,482 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,700,115 (GRCm39) |
M218L |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,881 (GRCm39) |
S1800P |
probably benign |
Het |
| Tpcn1 |
A |
C |
5: 120,680,015 (GRCm39) |
L576R |
probably damaging |
Het |
| Vmn2r34 |
T |
G |
7: 7,675,723 (GRCm39) |
Q555P |
possibly damaging |
Het |
| Vwa8 |
C |
T |
14: 79,335,801 (GRCm39) |
T1419I |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,855,081 (GRCm39) |
Y14H |
probably benign |
Het |
| Zfp1007 |
A |
G |
5: 109,823,708 (GRCm39) |
C581R |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,382,376 (GRCm39) |
D241E |
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 |
|
|
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 |
|
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'- AGGTCTGTTATGCTTCCTGGAAC -3'
Sequencing Primer
(F):5'- GGCATGGATTGACATACACAAAATC -3'
(R):5'- GCTTCCTGGAACTTTCAAAATGATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation