Incidental Mutation 'R6769:Rassf4'
| ID |
532085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf4
|
| Ensembl Gene |
ENSMUSG00000042129 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 4 |
| Synonyms |
3830411C14Rik |
| MMRRC Submission |
044885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116618433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 215
(D215V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204576]
|
| AlphaFold |
Q8CB96 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035842
AA Change: D215V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: D215V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
1.36e-15 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
315 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203029
AA Change: D215V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: D215V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
8.7e-18 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
303 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204576
|
| SMART Domains |
Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3879 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
| Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
probably damaging |
Het |
|
| Other mutations in Rassf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Rassf4
|
APN |
6 |
116,622,089 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01132:Rassf4
|
APN |
6 |
116,636,568 (GRCm39) |
splice site |
probably benign |
|
|
IGL01637:Rassf4
|
APN |
6 |
116,618,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Rassf4
|
APN |
6 |
116,622,933 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02748:Rassf4
|
APN |
6 |
116,616,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02976:Rassf4
|
APN |
6 |
116,615,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03394:Rassf4
|
APN |
6 |
116,618,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Rassf4
|
UTSW |
6 |
116,624,516 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Rassf4
|
UTSW |
6 |
116,622,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Rassf4
|
UTSW |
6 |
116,616,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Rassf4
|
UTSW |
6 |
116,617,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Rassf4
|
UTSW |
6 |
116,622,088 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2369:Rassf4
|
UTSW |
6 |
116,615,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2916:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2918:Rassf4
|
UTSW |
6 |
116,618,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Rassf4
|
UTSW |
6 |
116,622,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5716:Rassf4
|
UTSW |
6 |
116,638,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7304:Rassf4
|
UTSW |
6 |
116,617,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7981:Rassf4
|
UTSW |
6 |
116,617,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Rassf4
|
UTSW |
6 |
116,617,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Rassf4
|
UTSW |
6 |
116,638,897 (GRCm39) |
splice site |
probably benign |
|
|
R9459:Rassf4
|
UTSW |
6 |
116,618,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9516:Rassf4
|
UTSW |
6 |
116,617,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9698:Rassf4
|
UTSW |
6 |
116,618,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCACTAATGAGAAGGGC -3'
(R):5'- CCAGGGAACAACAGCTTTGC -3'
Sequencing Primer
(F):5'- CCTGGAGAGGGTTCTTCCTAACAC -3'
(R):5'- CCAAGAGGCTGCTTTGCTGAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation