Incidental Mutation 'R6328:Rassf5'
| ID |
510783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf5
|
| Ensembl Gene |
ENSMUSG00000026430 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 5 |
| Synonyms |
Rapl, 1300019G20Rik, Nore1A, Nore1B |
| MMRRC Submission |
044482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131104147-131172915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131108405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 225
(V225E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027688]
[ENSMUST00000068564]
[ENSMUST00000068791]
[ENSMUST00000112442]
[ENSMUST00000131855]
[ENSMUST00000151874]
[ENSMUST00000212202]
|
| AlphaFold |
Q5EBH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027688
AA Change: V325E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: V325E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
C1
|
116 |
165 |
6.29e-8 |
SMART |
|
RA
|
267 |
359 |
1.07e-22 |
SMART |
|
Pfam:Nore1-SARAH
|
366 |
405 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068564
AA Change: V177E
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: V177E
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
119 |
211 |
1.07e-22 |
SMART |
|
PDB:4LGD|H
|
212 |
260 |
5e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068791
|
| SMART Domains |
Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112442
AA Change: C293S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: C293S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
C1
|
116 |
165 |
6.29e-8 |
SMART |
|
PDB:3DDC|B
|
198 |
301 |
7e-62 |
PDB |
|
Blast:RA
|
267 |
294 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131855
|
| SMART Domains |
Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
472 |
554 |
8.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151874
|
| SMART Domains |
Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
472 |
556 |
1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212202
AA Change: V225E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4498 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (57/58) |
| 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 Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
G |
A |
8: 124,688,756 (GRCm39) |
R507W |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,238,586 (GRCm39) |
D80G |
possibly damaging |
Het |
| Actr5 |
A |
G |
2: 158,477,264 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,984,512 (GRCm39) |
T1932I |
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,327,371 (GRCm39) |
T603S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,155,053 (GRCm39) |
F964I |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,215,570 (GRCm39) |
T77A |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,319,503 (GRCm39) |
H198R |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,519 (GRCm39) |
R16W |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,406 (GRCm39) |
R1103Q |
probably damaging |
Het |
| Cd59a |
A |
C |
2: 103,941,103 (GRCm39) |
Y27S |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,413 (GRCm39) |
H162R |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,212 (GRCm39) |
E240K |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,814,634 (GRCm39) |
V603A |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,772,980 (GRCm39) |
V359A |
probably benign |
Het |
| Dis3l2 |
T |
A |
1: 86,782,153 (GRCm39) |
S223T |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,679,734 (GRCm39) |
S535G |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,982 (GRCm39) |
K1977* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,165,717 (GRCm39) |
S515T |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,072,179 (GRCm39) |
E2397G |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,096 (GRCm39) |
G262S |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,509 (GRCm39) |
T477S |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,819 (GRCm39) |
E382G |
probably benign |
Het |
| Gltp |
A |
T |
5: 114,808,572 (GRCm39) |
C157S |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,887,905 (GRCm39) |
S378P |
probably damaging |
Het |
| Gulo |
G |
T |
14: 66,240,080 (GRCm39) |
T126K |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,124,836 (GRCm39) |
M251K |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,422,205 (GRCm39) |
D967G |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,858,933 (GRCm39) |
D68E |
probably damaging |
Het |
| Igkv5-39 |
G |
T |
6: 69,877,489 (GRCm39) |
S89* |
probably null |
Het |
| Kctd4 |
C |
A |
14: 76,200,037 (GRCm39) |
|
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,813 (GRCm39) |
Q255R |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,656 (GRCm39) |
I82T |
possibly damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,194 (GRCm39) |
M45L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,869,248 (GRCm39) |
K158I |
possibly damaging |
Het |
| Nufip1 |
C |
T |
14: 76,348,494 (GRCm39) |
P41L |
possibly damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,739 (GRCm39) |
W21R |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,073 (GRCm39) |
E183D |
probably damaging |
Het |
| Pcp2 |
T |
C |
8: 3,674,887 (GRCm39) |
D22G |
probably damaging |
Het |
| Pdk2 |
G |
C |
11: 94,930,228 (GRCm39) |
N69K |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,655,905 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
C |
A |
1: 138,041,416 (GRCm39) |
E148* |
probably null |
Het |
| Rbm6 |
A |
T |
9: 107,664,458 (GRCm39) |
M725K |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,660 (GRCm39) |
I1867F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,684,581 (GRCm39) |
Q1960L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,064,474 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,381,345 (GRCm39) |
R496* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,878,176 (GRCm39) |
V222I |
probably damaging |
Het |
| Sntg2 |
A |
C |
12: 30,308,013 (GRCm39) |
L224R |
probably damaging |
Het |
| Syt16 |
C |
A |
12: 74,313,467 (GRCm39) |
C464* |
probably null |
Het |
| Tapbpl |
T |
A |
6: 125,201,881 (GRCm39) |
S420C |
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,723,694 (GRCm39) |
E528G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,602,710 (GRCm39) |
T219A |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,981 (GRCm39) |
F467L |
probably damaging |
Het |
|
| Other mutations in Rassf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02728:Rassf5
|
APN |
1 |
131,108,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03055:Rassf5
|
UTSW |
1 |
131,172,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0464:Rassf5
|
UTSW |
1 |
131,139,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0589:Rassf5
|
UTSW |
1 |
131,172,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Rassf5
|
UTSW |
1 |
131,172,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Rassf5
|
UTSW |
1 |
131,172,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Rassf5
|
UTSW |
1 |
131,109,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Rassf5
|
UTSW |
1 |
131,140,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Rassf5
|
UTSW |
1 |
131,172,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Rassf5
|
UTSW |
1 |
131,108,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5422:Rassf5
|
UTSW |
1 |
131,108,911 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5490:Rassf5
|
UTSW |
1 |
131,108,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6189:Rassf5
|
UTSW |
1 |
131,172,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Rassf5
|
UTSW |
1 |
131,172,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6759:Rassf5
|
UTSW |
1 |
131,109,988 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7115:Rassf5
|
UTSW |
1 |
131,108,986 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7350:Rassf5
|
UTSW |
1 |
131,106,273 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7910:Rassf5
|
UTSW |
1 |
131,108,366 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8286:Rassf5
|
UTSW |
1 |
131,140,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8706:Rassf5
|
UTSW |
1 |
131,172,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8732:Rassf5
|
UTSW |
1 |
131,106,264 (GRCm39) |
makesense |
probably null |
|
|
R9023:Rassf5
|
UTSW |
1 |
131,140,077 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Rassf5
|
UTSW |
1 |
131,109,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGCTGAGCCTCTGGAAGTC -3'
(R):5'- AGTGCCTCTCAAATGGCAGG -3'
Sequencing Primer
(F):5'- ACTTTGCAGTTAAGACAGCAGC -3'
(R):5'- CCTCTCAAATGGCAGGAATGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation