Incidental Mutation 'R6746:Rassf6'
| ID |
532824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf6
|
| Ensembl Gene |
ENSMUSG00000029370 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 6 |
| Synonyms |
1600016B17Rik |
| MMRRC Submission |
044863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90757633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 109
(R109L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031317
AA Change: R109L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
188 |
278 |
2.67e-9 |
SMART |
|
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202704
AA Change: R109L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
188 |
278 |
2.67e-9 |
SMART |
|
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202784
AA Change: R109L
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
126 |
135 |
N/A |
INTRINSIC |
|
RA
|
175 |
265 |
2.67e-9 |
SMART |
|
Pfam:Nore1-SARAH
|
277 |
316 |
8.6e-12 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202807
AA Change: R9L
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,565,195 (GRCm39) |
L79* |
probably null |
Het |
| Acot3 |
A |
G |
12: 84,100,248 (GRCm39) |
N8S |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,169,442 (GRCm39) |
V302A |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,488,933 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,250,357 (GRCm39) |
K392E |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,908,392 (GRCm39) |
N444K |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,623,020 (GRCm39) |
N298K |
probably benign |
Het |
| Brinp2 |
C |
T |
1: 158,094,160 (GRCm39) |
G181R |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,300,253 (GRCm39) |
C2184* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,213,915 (GRCm39) |
T205A |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,696 (GRCm39) |
I759T |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,370,404 (GRCm39) |
D623G |
possibly damaging |
Het |
| Col6a3 |
G |
T |
1: 90,706,767 (GRCm39) |
N2115K |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,987 (GRCm39) |
D629G |
possibly damaging |
Het |
| Fahd1 |
G |
T |
17: 25,068,915 (GRCm39) |
A54E |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,501,945 (GRCm39) |
R561Q |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,747,790 (GRCm39) |
D334V |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,373 (GRCm39) |
D438E |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,156,585 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
C |
A |
3: 3,722,170 (GRCm39) |
Y441* |
probably null |
Het |
| Hspa13 |
A |
T |
16: 75,561,925 (GRCm39) |
N91K |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,413,057 (GRCm39) |
I193T |
possibly damaging |
Het |
| Itga7 |
T |
C |
10: 128,785,341 (GRCm39) |
V848A |
probably benign |
Het |
| Kash5 |
C |
T |
7: 44,849,735 (GRCm39) |
V63I |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,615,529 (GRCm39) |
M341T |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,052,531 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
A |
C |
7: 48,097,645 (GRCm39) |
V89G |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,441,080 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,075,242 (GRCm39) |
V434E |
probably damaging |
Het |
| Or2ak6 |
G |
A |
11: 58,593,369 (GRCm39) |
V281I |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,048,774 (GRCm39) |
M162V |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,952 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otor |
T |
A |
2: 142,921,955 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
G |
A |
12: 32,244,757 (GRCm39) |
T899M |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Pld2 |
C |
A |
11: 70,431,933 (GRCm39) |
L52M |
probably damaging |
Het |
| Pon3 |
A |
T |
6: 5,230,786 (GRCm39) |
M247K |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,742,319 (GRCm39) |
Y1037* |
probably null |
Het |
| Ppm1m |
A |
T |
9: 106,075,351 (GRCm39) |
C99* |
probably null |
Het |
| Prss44 |
A |
T |
9: 110,644,361 (GRCm39) |
*145C |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,371,821 (GRCm39) |
Y613N |
probably damaging |
Het |
| Ralgapb |
T |
G |
2: 158,318,056 (GRCm39) |
V866G |
probably damaging |
Het |
| Rbm4b |
A |
C |
19: 4,812,031 (GRCm39) |
T147P |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,090,322 (GRCm39) |
K104R |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,829 (GRCm39) |
I69N |
possibly damaging |
Het |
| Scd1 |
G |
T |
19: 44,394,927 (GRCm39) |
F99L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,844 (GRCm39) |
I22N |
probably benign |
Het |
| Spint2 |
A |
T |
7: 28,958,848 (GRCm39) |
S66T |
probably benign |
Het |
| Tarm1 |
T |
A |
7: 3,550,978 (GRCm39) |
I2F |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,542,067 (GRCm39) |
V1860A |
probably damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,920 (GRCm39) |
I49T |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,294 (GRCm39) |
|
probably null |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,552 (GRCm39) |
H484P |
possibly damaging |
Het |
| Wdr35 |
T |
A |
12: 9,053,982 (GRCm39) |
|
probably null |
Het |
| Zfp937 |
A |
T |
2: 150,081,343 (GRCm39) |
K458* |
probably null |
Het |
|
| Other mutations in Rassf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Rassf6
|
APN |
5 |
90,751,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00819:Rassf6
|
APN |
5 |
90,751,930 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01139:Rassf6
|
APN |
5 |
90,756,825 (GRCm39) |
makesense |
probably null |
|
|
IGL03114:Rassf6
|
APN |
5 |
90,756,649 (GRCm39) |
splice site |
probably benign |
|
|
R1956:Rassf6
|
UTSW |
5 |
90,763,730 (GRCm39) |
nonsense |
probably null |
|
|
R2167:Rassf6
|
UTSW |
5 |
90,751,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Rassf6
|
UTSW |
5 |
90,779,418 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2877:Rassf6
|
UTSW |
5 |
90,754,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3943:Rassf6
|
UTSW |
5 |
90,752,185 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3944:Rassf6
|
UTSW |
5 |
90,752,185 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4131:Rassf6
|
UTSW |
5 |
90,757,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Rassf6
|
UTSW |
5 |
90,752,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5153:Rassf6
|
UTSW |
5 |
90,754,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5633:Rassf6
|
UTSW |
5 |
90,751,977 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5994:Rassf6
|
UTSW |
5 |
90,765,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Rassf6
|
UTSW |
5 |
90,751,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Rassf6
|
UTSW |
5 |
90,757,584 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7190:Rassf6
|
UTSW |
5 |
90,754,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Rassf6
|
UTSW |
5 |
90,754,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Rassf6
|
UTSW |
5 |
90,779,391 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9472:Rassf6
|
UTSW |
5 |
90,765,572 (GRCm39) |
nonsense |
probably null |
|
|
RF002:Rassf6
|
UTSW |
5 |
90,756,784 (GRCm39) |
nonsense |
probably null |
|
|
RF002:Rassf6
|
UTSW |
5 |
90,756,780 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF004:Rassf6
|
UTSW |
5 |
90,756,778 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF011:Rassf6
|
UTSW |
5 |
90,756,780 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF013:Rassf6
|
UTSW |
5 |
90,756,800 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF018:Rassf6
|
UTSW |
5 |
90,756,788 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF032:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,756,776 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,756,771 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,756,782 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF035:Rassf6
|
UTSW |
5 |
90,756,767 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF036:Rassf6
|
UTSW |
5 |
90,756,774 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF038:Rassf6
|
UTSW |
5 |
90,756,789 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF038:Rassf6
|
UTSW |
5 |
90,756,783 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF039:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF039:Rassf6
|
UTSW |
5 |
90,756,774 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF043:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF043:Rassf6
|
UTSW |
5 |
90,756,791 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF049:Rassf6
|
UTSW |
5 |
90,756,772 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF051:Rassf6
|
UTSW |
5 |
90,756,788 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF052:Rassf6
|
UTSW |
5 |
90,756,782 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF052:Rassf6
|
UTSW |
5 |
90,756,775 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,756,790 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,756,783 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,756,770 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF063:Rassf6
|
UTSW |
5 |
90,756,801 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Rassf6
|
UTSW |
5 |
90,754,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACTACCAGGCTTCTCG -3'
(R):5'- CGCTGCATTTCAGGATATAGCTG -3'
Sequencing Primer
(F):5'- TACCAGGCTTCTCGGCGAC -3'
(R):5'- TTTGCCCAAAAACATACAGGGTGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation