Incidental Mutation 'RF011:Rassf6'
ID |
603200 |
Institutional Source |
Beutler Lab
|
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 # |
RF011 (G1)
|
Quality Score |
152.468 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
TCCTGTAGAGCAATGGGGATTC to TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC
at 90756780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031317
|
SMART Domains |
Protein: ENSMUSP00000031317 Gene: ENSMUSG00000029370
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
|
SMART Domains |
Protein: ENSMUSP00000144532 Gene: ENSMUSG00000029370
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
|
SMART Domains |
Protein: ENSMUSP00000144337 Gene: ENSMUSG00000029370
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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGCTG |
TGCTGTGGCGGCTG |
1: 82,891,307 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GCG |
GCGTCG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
Aqp2 |
T |
C |
15: 99,481,753 (GRCm39) |
S216P |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,721,009 (GRCm39) |
K672R |
possibly damaging |
Het |
Cacna1f |
GGA |
GGAAGA |
X: 7,486,295 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
CCA |
CCAGCA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
Cela2a |
T |
C |
4: 141,549,026 (GRCm39) |
N117D |
probably benign |
Het |
Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
A |
T |
7: 107,350,375 (GRCm39) |
S235R |
probably benign |
Het |
Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
TT |
TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT |
9: 20,821,440 (GRCm39) |
|
probably null |
Het |
E4f1 |
CCG |
CCGTCG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
Fam171b |
TCCAGCA |
TCCAGCACCAGCA |
2: 83,643,217 (GRCm39) |
|
probably benign |
Het |
Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
Flii |
G |
A |
11: 60,607,069 (GRCm39) |
A969V |
probably benign |
Het |
Fscb |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
12: 64,519,768 (GRCm39) |
|
probably benign |
Het |
Gas1 |
G |
GAAA |
13: 60,324,345 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,767,220 (GRCm39) |
D115G |
probably null |
Het |
Guca2b |
G |
T |
4: 119,514,044 (GRCm39) |
T89N |
possibly damaging |
Het |
Hcn4 |
T |
A |
9: 58,767,198 (GRCm39) |
S920T |
unknown |
Het |
Heatr1 |
A |
G |
13: 12,422,425 (GRCm39) |
M484V |
probably benign |
Het |
Iba57 |
G |
T |
11: 59,054,438 (GRCm39) |
A27E |
probably benign |
Het |
Ifi207 |
G |
C |
1: 173,556,687 (GRCm39) |
L684V |
not run |
Het |
Ints13 |
T |
C |
6: 146,457,738 (GRCm39) |
H380R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,055,978 (GRCm39) |
T466I |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Kif12 |
C |
CCTCCACCCGGCGGGG |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,543,457 (GRCm39) |
D1399E |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,367,648 (GRCm39) |
L2371Q |
probably damaging |
Het |
Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Mgam |
C |
A |
6: 40,734,370 (GRCm39) |
Q1472K |
probably damaging |
Het |
Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CGCCGC |
CGCCGCAGCCGC |
X: 98,864,967 (GRCm39) |
|
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,824,156 (GRCm39) |
N167D |
probably damaging |
Het |
Or4d10c |
C |
T |
19: 12,065,611 (GRCm39) |
V182I |
probably benign |
Het |
Or5be3 |
T |
A |
2: 86,864,385 (GRCm39) |
Y60F |
probably damaging |
Het |
Osbpl3 |
CCTGCA |
C |
6: 50,325,118 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCCCCC |
CCCCCCCCCCCCCCCC |
2: 156,146,540 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCCCC |
CCCCCCCCCCCCCCC |
2: 156,146,541 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,281,878 (GRCm39) |
F445S |
probably damaging |
Het |
S100a10 |
TTTTTTTA |
T |
3: 93,471,541 (GRCm39) |
|
probably benign |
Het |
Sbp |
AA |
AAAATGCTGACAACGGA |
17: 24,164,328 (GRCm39) |
|
probably benign |
Het |
Sec14l3 |
A |
C |
11: 4,017,963 (GRCm39) |
Q81P |
possibly damaging |
Het |
Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,515 (GRCm39) |
|
probably benign |
Het |
Six3 |
CGG |
CGGGGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
Tox2 |
A |
G |
2: 163,067,484 (GRCm39) |
I68V |
probably benign |
Het |
Triml2 |
G |
T |
8: 43,636,201 (GRCm39) |
|
probably benign |
Het |
Tspan33 |
A |
G |
6: 29,716,729 (GRCm39) |
Y162C |
probably damaging |
Het |
Zfp384 |
GGCCCAGGCCCA |
GGCCCAGGCCCAAGCCCAGGCCCA |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,574 (GRCm39) |
Y589H |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,246,383 (GRCm39) |
I230V |
probably benign |
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 |
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 |
|
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'- TTAGGCATCTGCTACCGCTG -3'
(R):5'- GCCAGGAAATAGCAGTCATTCTTG -3'
Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'
|
Posted On |
2019-12-04 |