Incidental Mutation 'R5597:Rassf7'
ID |
437878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rassf7
|
Ensembl Gene |
ENSMUSG00000038618 |
Gene Name |
Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 |
Synonyms |
2400009B11Rik |
MMRRC Submission |
043149-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R5597 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140795773-140798571 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 140797024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000046890]
[ENSMUST00000127613]
[ENSMUST00000133763]
[ENSMUST00000141804]
[ENSMUST00000153081]
[ENSMUST00000210993]
[ENSMUST00000209500]
[ENSMUST00000170841]
[ENSMUST00000148975]
|
AlphaFold |
Q9DD19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026573
|
SMART Domains |
Protein: ENSMUSP00000026573 Gene: ENSMUSG00000025500
Domain | Start | End | E-Value | Type |
coiled coil region
|
114 |
170 |
N/A |
INTRINSIC |
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
Pfam:LTD
|
375 |
482 |
1.3e-13 |
PFAM |
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046890
AA Change: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038444 Gene: ENSMUSG00000038618 AA Change: D79G
Domain | Start | End | E-Value | Type |
RA
|
6 |
89 |
1.67e-19 |
SMART |
low complexity region
|
181 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
244 |
N/A |
INTRINSIC |
coiled coil region
|
259 |
300 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127613
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133763
AA Change: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118313 Gene: ENSMUSG00000038618 AA Change: D79G
Domain | Start | End | E-Value | Type |
RA
|
6 |
89 |
1.67e-19 |
SMART |
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141804
AA Change: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115948 Gene: ENSMUSG00000038618 AA Change: D79G
Domain | Start | End | E-Value | Type |
RA
|
6 |
89 |
1.67e-19 |
SMART |
low complexity region
|
181 |
215 |
N/A |
INTRINSIC |
low complexity region
|
217 |
243 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149548
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153081
AA Change: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123128 Gene: ENSMUSG00000038618 AA Change: D79G
Domain | Start | End | E-Value | Type |
RA
|
6 |
89 |
1.67e-19 |
SMART |
low complexity region
|
181 |
199 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210993
AA Change: D79G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209500
AA Change: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209760
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170841
|
SMART Domains |
Protein: ENSMUSP00000130905 Gene: ENSMUSG00000025500
Domain | Start | End | E-Value | Type |
coiled coil region
|
124 |
180 |
N/A |
INTRINSIC |
low complexity region
|
296 |
308 |
N/A |
INTRINSIC |
SCOP:d1ifra_
|
385 |
487 |
1e-22 |
SMART |
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148975
|
SMART Domains |
Protein: ENSMUSP00000118078 Gene: ENSMUSG00000038618
Domain | Start | End | E-Value | Type |
Blast:RA
|
6 |
35 |
5e-13 |
BLAST |
PDB:2CS4|A
|
7 |
35 |
2e-11 |
PDB |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6247 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,720,657 (GRCm39) |
N166S |
probably benign |
Het |
Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
Lars2 |
A |
T |
9: 123,284,047 (GRCm39) |
D745V |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
Palmd |
T |
A |
3: 116,717,225 (GRCm39) |
D424V |
probably damaging |
Het |
Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
Slco3a1 |
C |
A |
7: 73,934,210 (GRCm39) |
R654L |
probably benign |
Het |
Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
Het |
|
Other mutations in Rassf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02098:Rassf7
|
APN |
7 |
140,798,203 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0883:Rassf7
|
UTSW |
7 |
140,796,903 (GRCm39) |
splice site |
probably benign |
|
R1275:Rassf7
|
UTSW |
7 |
140,797,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Rassf7
|
UTSW |
7 |
140,796,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Rassf7
|
UTSW |
7 |
140,796,973 (GRCm39) |
splice site |
probably null |
|
R5663:Rassf7
|
UTSW |
7 |
140,797,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R6250:Rassf7
|
UTSW |
7 |
140,797,156 (GRCm39) |
missense |
probably damaging |
0.98 |
R6806:Rassf7
|
UTSW |
7 |
140,796,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R6817:Rassf7
|
UTSW |
7 |
140,797,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R6962:Rassf7
|
UTSW |
7 |
140,797,503 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7054:Rassf7
|
UTSW |
7 |
140,797,556 (GRCm39) |
missense |
probably benign |
0.01 |
R7562:Rassf7
|
UTSW |
7 |
140,797,101 (GRCm39) |
nonsense |
probably null |
|
R7682:Rassf7
|
UTSW |
7 |
140,797,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R9308:Rassf7
|
UTSW |
7 |
140,798,063 (GRCm39) |
missense |
probably benign |
|
R9508:Rassf7
|
UTSW |
7 |
140,796,924 (GRCm39) |
nonsense |
probably null |
|
X0026:Rassf7
|
UTSW |
7 |
140,798,045 (GRCm39) |
nonsense |
probably null |
|
Z1088:Rassf7
|
UTSW |
7 |
140,797,058 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rassf7
|
UTSW |
7 |
140,798,198 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTCAAGCCAGTAGATAGAGG -3'
(R):5'- AAAGCCGTCTGGTATGGGTC -3'
Sequencing Primer
(F):5'- CGATTTGTCCTTGTGCAG -3'
(R):5'- CGTCTGGTATGGGTCCTACCAG -3'
|
Posted On |
2016-10-26 |