Incidental Mutation 'IGL02000:Rassf4'
| ID |
183006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rassf4
|
| Ensembl Gene |
ENSMUSG00000042129 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family member 4 |
| Synonyms |
3830411C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116609969-116650797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116622933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 26
(E26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000067354]
[ENSMUST00000178241]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204555]
[ENSMUST00000204576]
|
| AlphaFold |
Q8CB96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035842
AA Change: E96G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: E96G
| 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: ENSMUST00000067354
|
| SMART Domains |
Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
205 |
1.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178241
|
| SMART Domains |
Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
205 |
5.5e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203029
AA Change: E96G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: E96G
| 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 |
noncoding transcript
Transcript: ENSMUST00000203477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204203
AA Change: E26G
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204555
|
| SMART Domains |
Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
70 |
3e-22 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
| Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
| Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
| Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
| Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
| Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
| Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
| Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
| Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation