Incidental Mutation 'R5716:Rassf4'
ID |
451175 |
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 |
043187-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5716 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116638828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 13
(V13A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204576]
|
AlphaFold |
Q8CB96 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035842
AA Change: V13A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000048267 Gene: ENSMUSG00000042129 AA Change: V13A
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 |
probably benign
Transcript: ENSMUST00000203029
AA Change: V13A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000144786 Gene: ENSMUSG00000042129 AA Change: V13A
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 |
noncoding transcript
Transcript: ENSMUST00000204313
|
Predicted Effect |
unknown
Transcript: ENSMUST00000204576
AA Change: S4P
|
SMART Domains |
Protein: ENSMUSP00000145394 Gene: ENSMUSG00000042129 AA Change: S4P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
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 |
1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
Acad12 |
A |
G |
5: 121,748,046 (GRCm39) |
V124A |
probably benign |
Het |
Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
Brf2 |
A |
G |
8: 27,616,074 (GRCm39) |
S104P |
probably benign |
Het |
Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
Kars1 |
T |
A |
8: 112,730,074 (GRCm39) |
|
probably null |
Het |
Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
Pnn |
A |
G |
12: 59,118,658 (GRCm39) |
I414V |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
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 |
R6769:Rassf4
|
UTSW |
6 |
116,618,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- TTGATCTACAAAGAGAGGCAGCC -3'
(R):5'- ATCGGGGCTGAACAACACTG -3'
Sequencing Primer
(F):5'- GGCAGCCTCCCAACAAAAGG -3'
(R):5'- AGAAGGTCCCAGTCCATTGTG -3'
|
Posted On |
2017-01-03 |