Incidental Mutation 'RF034:Rassf6'
| ID |
604484 |
| 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: 0.104)
|
| Stock # |
RF034 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90603076-90640657 bp(-) (GRCm38) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
CACTCATGGTCCTGTAGAGCAATGGGGATTC to CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC
at 90608912 bp (GRCm38)
|
| 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: 82,913,580 (GRCm38) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,905,092 (GRCm38) |
|
probably benign |
Het |
| Alpk3 |
GAGAAGGCAC |
G |
7: 81,092,414 (GRCm38) |
|
probably benign |
Het |
| Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,050,760 (GRCm38) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,502,722 (GRCm38) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 156,073,510 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 87,040,417 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 87,040,447 (GRCm38) |
|
probably null |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,485,832 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,910,120 (GRCm38) |
|
probably null |
Het |
| Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,378,149 (GRCm38) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 80,615,238 (GRCm38) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCTGTCTC |
X: 72,270,762 (GRCm38) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,500,523 (GRCm38) |
|
probably null |
Het |
| Gm15155 |
CAA |
CAACAACAAA |
X: 156,345,640 (GRCm38) |
|
probably null |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 68,226,176 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,042,282 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 71,118,835 (GRCm38) |
|
probably benign |
Het |
| Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,306,304 (GRCm38) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,306,307 (GRCm38) |
|
probably benign |
Het |
| Neu1 |
TCTTCTA |
T |
17: 34,932,558 (GRCm38) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,081,371 (GRCm38) |
|
probably benign |
Het |
| Or7g31 |
G |
T |
9: 19,477,632 (GRCm38) |
A206E |
possibly damaging |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,279,374 (GRCm38) |
|
probably null |
Het |
| Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,149,526 (GRCm38) |
|
probably benign |
Het |
| Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,766,320 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGAGG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 84,956,175 (GRCm38) |
|
probably benign |
Het |
| Smarca2 |
CA |
CACCAAGA |
19: 26,631,011 (GRCm38) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 47,786,097 (GRCm38) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 47,786,098 (GRCm38) |
|
probably null |
Het |
| Tmed6 |
AGC |
AGCTGGC |
8: 107,061,596 (GRCm38) |
|
probably null |
Het |
| Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm38) |
|
probably benign |
Het |
| Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,801,298 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Rassf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Rassf6
|
APN |
5 |
90,604,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00819:Rassf6
|
APN |
5 |
90,604,071 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01139:Rassf6
|
APN |
5 |
90,608,966 (GRCm38) |
makesense |
probably null |
|
|
IGL03114:Rassf6
|
APN |
5 |
90,608,790 (GRCm38) |
splice site |
probably benign |
|
|
R1956:Rassf6
|
UTSW |
5 |
90,615,871 (GRCm38) |
nonsense |
probably null |
|
|
R2167:Rassf6
|
UTSW |
5 |
90,603,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2351:Rassf6
|
UTSW |
5 |
90,631,559 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2877:Rassf6
|
UTSW |
5 |
90,606,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3943:Rassf6
|
UTSW |
5 |
90,604,326 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3944:Rassf6
|
UTSW |
5 |
90,604,326 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4131:Rassf6
|
UTSW |
5 |
90,609,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5134:Rassf6
|
UTSW |
5 |
90,604,366 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5153:Rassf6
|
UTSW |
5 |
90,606,840 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5633:Rassf6
|
UTSW |
5 |
90,604,118 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5994:Rassf6
|
UTSW |
5 |
90,617,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6000:Rassf6
|
UTSW |
5 |
90,603,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6746:Rassf6
|
UTSW |
5 |
90,609,774 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7038:Rassf6
|
UTSW |
5 |
90,609,725 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7190:Rassf6
|
UTSW |
5 |
90,606,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7549:Rassf6
|
UTSW |
5 |
90,606,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8497:Rassf6
|
UTSW |
5 |
90,631,532 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9472:Rassf6
|
UTSW |
5 |
90,617,713 (GRCm38) |
nonsense |
probably null |
|
|
RF002:Rassf6
|
UTSW |
5 |
90,608,925 (GRCm38) |
nonsense |
probably null |
|
|
RF002:Rassf6
|
UTSW |
5 |
90,608,921 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF004:Rassf6
|
UTSW |
5 |
90,608,919 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF011:Rassf6
|
UTSW |
5 |
90,608,921 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF013:Rassf6
|
UTSW |
5 |
90,608,941 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF018:Rassf6
|
UTSW |
5 |
90,608,929 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF032:Rassf6
|
UTSW |
5 |
90,608,939 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,923 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,917 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF035:Rassf6
|
UTSW |
5 |
90,608,908 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF036:Rassf6
|
UTSW |
5 |
90,608,915 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF038:Rassf6
|
UTSW |
5 |
90,608,930 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF038:Rassf6
|
UTSW |
5 |
90,608,924 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF039:Rassf6
|
UTSW |
5 |
90,608,939 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF039:Rassf6
|
UTSW |
5 |
90,608,915 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF043:Rassf6
|
UTSW |
5 |
90,608,939 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF043:Rassf6
|
UTSW |
5 |
90,608,932 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF049:Rassf6
|
UTSW |
5 |
90,608,913 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF051:Rassf6
|
UTSW |
5 |
90,608,929 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF052:Rassf6
|
UTSW |
5 |
90,608,923 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF052:Rassf6
|
UTSW |
5 |
90,608,916 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,608,931 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,608,924 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF054:Rassf6
|
UTSW |
5 |
90,608,911 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF063:Rassf6
|
UTSW |
5 |
90,608,942 (GRCm38) |
nonsense |
probably null |
|
|
X0017:Rassf6
|
UTSW |
5 |
90,606,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGCATCTGCTACCGCTG -3'
(R):5'- CAGCCAGGAAATAGCAGTCATTC -3'
Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation