Incidental Mutation 'RF032:Rassf6'
| ID |
604407 |
| 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 # |
RF032 (G1)
|
| Quality Score |
151.467 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90603076-90640657 bp(-) (GRCm38) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
ATTC to ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC
at 90608939 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: 99.3%
- 20x: 98.4%
|
| 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 |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,287,727 (GRCm38) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,905,102 (GRCm38) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 4,995,588 (GRCm38) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,512,930 (GRCm38) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,620,063 (GRCm38) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,141,283 (GRCm38) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,669,515 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 87,040,413 (GRCm38) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,767,182 (GRCm38) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,874,772 (GRCm38) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,921,929 (GRCm38) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,511,778 (GRCm38) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,120,294 (GRCm38) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,735,157 (GRCm38) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 68,226,179 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,042,258 (GRCm38) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,640,489 (GRCm38) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,275,981 (GRCm38) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,275,985 (GRCm38) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,275,989 (GRCm38) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,419,711 (GRCm38) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,829,936 (GRCm38) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,627,587 (GRCm38) |
|
probably benign |
Het |
| Olfr418 |
GTGACATC |
G |
1: 173,270,709 (GRCm38) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,792,972 (GRCm38) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,635,658 (GRCm38) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,657,805 (GRCm38) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,707,968 (GRCm38) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 125,154,210 (GRCm38) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 157,720,923 (GRCm38) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm38) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,727,666 (GRCm38) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,616,063 (GRCm38) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,616,074 (GRCm38) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,967,036 (GRCm38) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 114,289,329 (GRCm38) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (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 |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,917 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,912 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,923 (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 |
90,608,932 (GRCm38) |
utr 3 prime |
probably benign |
|
|
RF043:Rassf6
|
UTSW |
5 |
90,608,939 (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'- CAGTGAACGGCTTGGAACAG -3'
Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- CAGCCAGGAAATAGCAGTCATTCTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation