Incidental Mutation 'IGL00819:Rassf6'
ID |
13768 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rassf6
|
Ensembl Gene |
ENSMUSG00000029370 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 6 |
Synonyms |
1600016B17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL00819
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90751930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 308
(K308E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031317
AA Change: K308E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000031317 Gene: ENSMUSG00000029370 AA Change: K308E
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: ENSMUST00000202704
AA Change: K308E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000144532 Gene: ENSMUSG00000029370 AA Change: K308E
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: K295E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000144337 Gene: ENSMUSG00000029370 AA Change: K295E
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 |
probably benign
Transcript: ENSMUST00000202807
|
Coding Region Coverage |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
Igsf9 |
T |
C |
1: 172,324,203 (GRCm39) |
S789P |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,081,476 (GRCm39) |
D284G |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,254 (GRCm39) |
L284S |
probably damaging |
Het |
Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,210,113 (GRCm39) |
Y33H |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
Zpbp2 |
A |
T |
11: 98,448,418 (GRCm39) |
H245L |
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 |
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 |
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 |
|
Posted On |
2012-12-06 |