Incidental Mutation 'RF034:Rassf6'
| ID |
604486 |
| 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: 0.078)
|
| Stock # |
RF034 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
CTGTAGAGCAATGGGGATTC to CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC
at 90756782 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: 99.4%
- 20x: 98.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
AGC |
AGCTGGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
90,756,774 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF039:Rassf6
|
UTSW |
5 |
90,756,798 (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 |
90,756,770 (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 |
|
|
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'- TGTTAGGCATCTGCTACCGC -3'
(R):5'- GCCAGGAAATAGCAGTCATTC -3'
Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation