Incidental Mutation 'R5994:Rassf6'
| ID |
480992 |
| 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 |
044173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R5994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90603076-90640657 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90617768 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 28
(L28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000201121]
[ENSMUST00000201370]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031317
AA Change: L28S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: L28S
| 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: ENSMUST00000201121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201370
|
| SMART Domains |
Protein: ENSMUSP00000144199
Gene: ENSMUSG00000029370
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202704
AA Change: L28S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: L28S
| 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: L28S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: L28S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,670,903 (GRCm38) |
H1118L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,949,766 (GRCm38) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,965,260 (GRCm38) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,593,664 (GRCm38) |
I1016N |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,429,070 (GRCm38) |
C312S |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,484,834 (GRCm38) |
V89M |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,881,376 (GRCm38) |
G330D |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,496,961 (GRCm38) |
L195P |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 93,039,081 (GRCm38) |
I514T |
probably damaging |
Het |
| Ctdsp2 |
G |
A |
10: 126,995,820 (GRCm38) |
|
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 115,121,945 (GRCm38) |
I152V |
probably benign |
Het |
| Dglucy |
G |
A |
12: 100,842,700 (GRCm38) |
R219Q |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,254,284 (GRCm38) |
A810E |
possibly damaging |
Het |
| Dtx4 |
T |
C |
19: 12,501,153 (GRCm38) |
Y22C |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,478,496 (GRCm38) |
I105N |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,603,453 (GRCm38) |
P519S |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,430,295 (GRCm38) |
S155C |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,506,246 (GRCm38) |
E51V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,364,348 (GRCm38) |
S26F |
probably benign |
Het |
| Golga7 |
T |
C |
8: 23,250,265 (GRCm38) |
E83G |
probably benign |
Het |
| Gpr12 |
T |
C |
5: 146,583,431 (GRCm38) |
H227R |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,164,392 (GRCm38) |
S85R |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,332,300 (GRCm38) |
S3282P |
unknown |
Het |
| Ift74 |
C |
A |
4: 94,691,724 (GRCm38) |
T543K |
possibly damaging |
Het |
| Klf10 |
C |
A |
15: 38,296,041 (GRCm38) |
R420L |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,862,855 (GRCm38) |
I338F |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 66,974,622 (GRCm38) |
S152C |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,541,496 (GRCm38) |
H270L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,219,117 (GRCm38) |
L504Q |
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,813,977 (GRCm38) |
Q366R |
probably benign |
Het |
| Npy5r |
A |
T |
8: 66,682,099 (GRCm38) |
V14D |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,351,599 (GRCm38) |
R830* |
probably null |
Het |
| Ogfrl1 |
A |
T |
1: 23,378,989 (GRCm38) |
Y103N |
probably damaging |
Het |
| Or10g7 |
A |
T |
9: 39,994,223 (GRCm38) |
R138* |
probably null |
Het |
| P2rx4 |
T |
A |
5: 122,725,079 (GRCm38) |
L232H |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,773,894 (GRCm38) |
T71S |
probably benign |
Het |
| Paip2b |
C |
A |
6: 83,808,885 (GRCm38) |
S121I |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,261,229 (GRCm38) |
T261I |
possibly damaging |
Het |
| Ppp6c |
G |
T |
2: 39,210,992 (GRCm38) |
T46K |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,850,336 (GRCm38) |
H371Q |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,674,156 (GRCm38) |
|
probably null |
Het |
| Psd3 |
C |
T |
8: 67,719,968 (GRCm38) |
A894T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,398,043 (GRCm38) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,491,597 (GRCm38) |
M989K |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,361,453 (GRCm38) |
S1159T |
probably benign |
Het |
| Rapgefl1 |
T |
C |
11: 98,850,160 (GRCm38) |
F575L |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,954,900 (GRCm38) |
K268N |
probably damaging |
Het |
| Rela |
C |
T |
19: 5,647,064 (GRCm38) |
T433M |
possibly damaging |
Het |
| Rnf103 |
T |
A |
6: 71,496,910 (GRCm38) |
S102R |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,806,379 (GRCm38) |
N516S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,587,483 (GRCm38) |
I241T |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,288,198 (GRCm38) |
I131T |
possibly damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,407,570 (GRCm38) |
F191L |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,047,375 (GRCm38) |
C236F |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,397,681 (GRCm38) |
T520A |
probably benign |
Het |
| Slc26a11 |
C |
A |
11: 119,379,912 (GRCm38) |
F553L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,365,409 (GRCm38) |
P1596S |
possibly damaging |
Het |
| Taar7b |
A |
G |
10: 24,000,348 (GRCm38) |
H137R |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,716,030 (GRCm38) |
C468* |
probably null |
Het |
| Timp4 |
C |
T |
6: 115,247,354 (GRCm38) |
G118D |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,511,266 (GRCm38) |
K48E |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 138,156,714 (GRCm38) |
I255N |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,048,732 (GRCm38) |
|
probably null |
Het |
| Tut7 |
T |
G |
13: 59,789,209 (GRCm38) |
Y806S |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,372,932 (GRCm38) |
Y283H |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 83,293,938 (GRCm38) |
V126L |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,596 (GRCm38) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,875,772 (GRCm38) |
S2768P |
probably damaging |
Het |
| Zfp101 |
T |
A |
17: 33,380,962 (GRCm38) |
M607L |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,805,464 (GRCm38) |
V2527M |
possibly damaging |
Het |
| Zfp503 |
T |
A |
14: 21,985,562 (GRCm38) |
T429S |
possibly damaging |
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 |
|
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 |
|
|
RF034:Rassf6
|
UTSW |
5 |
90,608,912 (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'- CCCAGGCCTACTATTTTGTGAC -3'
(R):5'- AGATCTTCCACCAGTTCTGC -3'
Sequencing Primer
(F):5'- CAGGCCTACTATTTTGTGACATAGC -3'
(R):5'- GGCTGAAGATTGATTGTGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation