Incidental Mutation 'R4131:Rassf6'
| ID |
314668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf6
|
| Ensembl Gene |
ENSMUSG00000029370 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 6 |
| Synonyms |
1600016B17Rik |
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
90603076-90640657 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90609787 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 105
(D105N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031317
AA Change: D105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: D105N
| 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 damaging
Transcript: ENSMUST00000202704
AA Change: D105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: D105N
| 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 damaging
Transcript: ENSMUST00000202784
AA Change: D105N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: D105N
| 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 |
unknown
Transcript: ENSMUST00000202807
AA Change: D5N
|
| Meta Mutation Damage Score |
0.1264 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,620,618 (GRCm38) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,319,871 (GRCm38) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,912,924 (GRCm38) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,155,308 (GRCm38) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,392,562 (GRCm38) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,264,054 (GRCm38) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,100,684 (GRCm38) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,688,431 (GRCm38) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,316,655 (GRCm38) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,614,484 (GRCm38) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,646,348 (GRCm38) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,902,239 (GRCm38) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,258,829 (GRCm38) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,437,389 (GRCm38) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 44,201,687 (GRCm38) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,228,217 (GRCm38) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,041,174 (GRCm38) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,180,535 (GRCm38) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,656,099 (GRCm38) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,544,537 (GRCm38) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 38,047,874 (GRCm38) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,662,869 (GRCm38) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,037,477 (GRCm38) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 41,951,159 (GRCm38) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,078,700 (GRCm38) |
S263P |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,926,983 (GRCm38) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,998,919 (GRCm38) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 85,044,447 (GRCm38) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,305,401 (GRCm38) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,995,396 (GRCm38) |
S790R |
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 |
|
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 |
90,608,917 (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 |
90,608,939 (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'- TACACTACCAGGCTTCTCGG -3'
(R):5'- ACGCTGCATTTCAGGATATAGCTG -3'
Sequencing Primer
(F):5'- GAGCTCATCAAGCAGTGT -3'
(R):5'- TTTGCCCAAAAACATACAGGGTGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation