Incidental Mutation 'R2351:Rassf6'
| ID |
246118 |
| 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 |
040333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90779418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 5
(D5G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000201121]
[ENSMUST00000201370]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031317
AA Change: D5G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: D5G
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
188 |
278 |
2.67e-9 |
SMART |
|
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201121
AA Change: D5G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201370
AA Change: D5G
|
| SMART Domains |
Protein: ENSMUSP00000144199
Gene: ENSMUSG00000029370
AA Change: D5G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202704
AA Change: D5G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: D5G
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
188 |
278 |
2.67e-9 |
SMART |
|
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202784
AA Change: D5G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: D5G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,846 (GRCm39) |
Y135* |
probably null |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,348 (GRCm39) |
Y256F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,767,990 (GRCm39) |
I820K |
probably benign |
Het |
| Arl8b |
A |
T |
6: 108,798,484 (GRCm39) |
I178F |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,007,653 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,766,718 (GRCm39) |
I552N |
possibly damaging |
Het |
| C130074G19Rik |
G |
T |
1: 184,615,060 (GRCm39) |
D43E |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,431,968 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
G |
19: 56,787,129 (GRCm39) |
K613T |
possibly damaging |
Het |
| Cggbp1 |
T |
A |
16: 64,676,046 (GRCm39) |
D37E |
possibly damaging |
Het |
| Cntn3 |
A |
T |
6: 102,314,344 (GRCm39) |
N123K |
possibly damaging |
Het |
| Col18a1 |
C |
T |
10: 76,948,538 (GRCm39) |
G325S |
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,638,218 (GRCm39) |
T405K |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,428,510 (GRCm39) |
V370A |
possibly damaging |
Het |
| Cyp4f13 |
T |
G |
17: 33,144,570 (GRCm39) |
I309L |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,840,870 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,403,301 (GRCm39) |
D3080E |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,770,731 (GRCm39) |
V762A |
probably damaging |
Het |
| Fgr |
C |
T |
4: 132,724,548 (GRCm39) |
R255C |
probably damaging |
Het |
| Gcm2 |
A |
T |
13: 41,257,094 (GRCm39) |
D218E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,869,640 (GRCm39) |
S131P |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 28,126,118 (GRCm39) |
C3S |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,113,226 (GRCm39) |
D840G |
probably benign |
Het |
| H3f3a |
T |
C |
1: 180,637,723 (GRCm39) |
T81A |
probably benign |
Het |
| Igsf23 |
C |
T |
7: 19,678,723 (GRCm39) |
W22* |
probably null |
Het |
| Il12rb2 |
G |
A |
6: 67,338,928 (GRCm39) |
Q3* |
probably null |
Het |
| Ino80d |
A |
T |
1: 63,124,994 (GRCm39) |
L156H |
probably benign |
Het |
| Kdm2a |
G |
A |
19: 4,379,154 (GRCm39) |
P554S |
probably benign |
Het |
| Lefty1 |
T |
A |
1: 180,764,807 (GRCm39) |
L244H |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,750,010 (GRCm39) |
S4398T |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,683,965 (GRCm39) |
D1126G |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,341,574 (GRCm39) |
D111V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,420,169 (GRCm39) |
D1367V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,276,257 (GRCm39) |
H666L |
possibly damaging |
Het |
| Nsmaf |
T |
A |
4: 6,437,921 (GRCm39) |
I77F |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,958,357 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,003,438 (GRCm39) |
R1287G |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,520,077 (GRCm39) |
D9G |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,904,743 (GRCm39) |
G231S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,883 (GRCm39) |
Y61* |
probably null |
Het |
| Or6c8b |
A |
G |
10: 128,882,797 (GRCm39) |
V45A |
probably benign |
Het |
| Or6k2 |
T |
A |
1: 173,986,486 (GRCm39) |
V49D |
probably damaging |
Het |
| Or8k24 |
C |
T |
2: 86,216,471 (GRCm39) |
C97Y |
probably damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,056 (GRCm39) |
S101R |
probably benign |
Het |
| Pdhx |
T |
A |
2: 102,854,562 (GRCm39) |
K399* |
probably null |
Het |
| Pdia4 |
A |
T |
6: 47,773,848 (GRCm39) |
|
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,130,923 (GRCm39) |
D844G |
probably benign |
Het |
| Prtg |
C |
A |
9: 72,764,106 (GRCm39) |
D526E |
probably damaging |
Het |
| Riok3 |
C |
T |
18: 12,282,724 (GRCm39) |
Q388* |
probably null |
Het |
| Robo4 |
T |
A |
9: 37,322,956 (GRCm39) |
F825L |
probably benign |
Het |
| Rpl13a-ps1 |
C |
T |
19: 50,018,868 (GRCm39) |
E103K |
probably benign |
Het |
| Rpl18a |
A |
T |
8: 71,348,864 (GRCm39) |
H37Q |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,774,718 (GRCm39) |
S2301T |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,660 (GRCm39) |
D2E |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 13,060,158 (GRCm39) |
V188I |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,547 (GRCm39) |
M1098K |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,983,726 (GRCm39) |
D701G |
probably damaging |
Het |
| Ssmem1 |
T |
C |
6: 30,512,495 (GRCm39) |
F46S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,441,803 (GRCm39) |
R1938W |
probably damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,121 (GRCm39) |
I209V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,100,656 (GRCm39) |
Y87C |
probably damaging |
Het |
| Traf4 |
G |
A |
11: 78,051,002 (GRCm39) |
R385W |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,888,780 (GRCm39) |
V1962M |
probably benign |
Het |
| Tspan12 |
T |
G |
6: 21,835,506 (GRCm39) |
I56L |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,653,674 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,869,457 (GRCm39) |
W2654R |
probably damaging |
Het |
| Zc3h18 |
C |
T |
8: 123,129,926 (GRCm39) |
R435* |
probably null |
Het |
| Zfta |
T |
C |
19: 7,399,609 (GRCm39) |
I247T |
probably damaging |
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 |
|
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 |
|
R6746:Rassf6
|
UTSW |
5 |
90,757,633 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- AATGTCATAGCCTACCAGTGGC -3'
(R):5'- TCCAGCCACTTCTCGTTAGG -3'
Sequencing Primer
(F):5'- TCATAGCCTACCAGTGGCTAAGG -3'
(R):5'- TAGGTTGCTGCAGTATAACGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation