Incidental Mutation 'IGL02244:Araf'
| ID |
286124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Araf
|
| Ensembl Gene |
ENSMUSG00000001127 |
| Gene Name |
Araf proto-oncogene, serine/threonine kinase |
| Synonyms |
1200013E08Rik, Araf1, A-Raf |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
IGL02244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
20664053-20726758 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 20719835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001155]
[ENSMUST00000120356]
[ENSMUST00000122312]
[ENSMUST00000122850]
[ENSMUST00000136451]
|
| AlphaFold |
P04627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001155
|
| SMART Domains |
Protein: ENSMUSP00000001155
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
19 |
91 |
1.46e-28 |
SMART |
|
C1
|
99 |
144 |
7.68e-12 |
SMART |
|
low complexity region
|
243 |
268 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
308 |
565 |
1.9e-61 |
PFAM |
|
Pfam:Pkinase
|
308 |
566 |
1.7e-56 |
PFAM |
|
Pfam:Kinase-like
|
388 |
555 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120356
|
| SMART Domains |
Protein: ENSMUSP00000112513
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
19 |
91 |
1.46e-28 |
SMART |
|
C1
|
99 |
144 |
7.68e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122312
|
| SMART Domains |
Protein: ENSMUSP00000112521
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
19 |
91 |
1.46e-28 |
SMART |
|
C1
|
99 |
144 |
7.68e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122850
|
| SMART Domains |
Protein: ENSMUSP00000114846
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
19 |
91 |
1.46e-28 |
SMART |
|
C1
|
99 |
144 |
7.68e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128250
|
| SMART Domains |
Protein: ENSMUSP00000119544
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
5 |
109 |
3.8e-15 |
PFAM |
|
Pfam:Pkinase
|
16 |
109 |
2.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136451
|
| SMART Domains |
Protein: ENSMUSP00000115793
Gene: ENSMUSG00000001127
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
56 |
128 |
1.46e-28 |
SMART |
|
C1
|
136 |
181 |
7.68e-12 |
SMART |
|
low complexity region
|
280 |
305 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
345 |
401 |
2.3e-7 |
PFAM |
|
Pfam:Pkinase
|
345 |
403 |
7.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150190
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous females or hemizygous males for a null targeted mutation show variable genetic background effects, from preweaning death, wasting, tremors, distended colon and small thymus to normal survival and breeding with mild neurological defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,853,085 (GRCm39) |
T17K |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,416,120 (GRCm39) |
S714P |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
T |
9: 99,365,227 (GRCm39) |
D638E |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,067,068 (GRCm39) |
T107I |
possibly damaging |
Het |
| Ces1e |
A |
C |
8: 93,938,977 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
C |
A |
1: 82,647,492 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
A |
G |
X: 140,382,669 (GRCm39) |
|
probably benign |
Het |
| Crocc |
T |
C |
4: 140,765,231 (GRCm39) |
H477R |
probably benign |
Het |
| Dgkd |
C |
A |
1: 87,842,863 (GRCm39) |
N130K |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,174 (GRCm39) |
Q634* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,801,351 (GRCm39) |
V58I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,793,807 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,612,817 (GRCm39) |
R379H |
probably damaging |
Het |
| Kctd12b |
T |
A |
X: 152,472,330 (GRCm39) |
M120L |
probably benign |
Het |
| Krt33b |
A |
G |
11: 99,916,189 (GRCm39) |
V258A |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,591,770 (GRCm39) |
N819I |
probably damaging |
Het |
| Lurap1l |
T |
C |
4: 80,871,866 (GRCm39) |
S120P |
probably damaging |
Het |
| Lysmd4 |
T |
C |
7: 66,875,672 (GRCm39) |
S112P |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,274,971 (GRCm39) |
K708R |
probably benign |
Het |
| Nr3c1 |
T |
A |
18: 39,554,610 (GRCm39) |
|
probably benign |
Het |
| Nup62cl |
G |
T |
X: 138,922,780 (GRCm39) |
N239K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,210 (GRCm39) |
E1269V |
probably damaging |
Het |
| Or52e7 |
C |
T |
7: 104,685,152 (GRCm39) |
T249M |
probably damaging |
Het |
| Pcdh9 |
A |
C |
14: 93,564,204 (GRCm39) |
L1084R |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,955,218 (GRCm39) |
M543T |
probably benign |
Het |
| Prss53 |
T |
A |
7: 127,487,964 (GRCm39) |
T173S |
possibly damaging |
Het |
| Reep2 |
C |
A |
18: 34,973,807 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,419,003 (GRCm39) |
D703G |
probably benign |
Het |
| Sbf2 |
T |
G |
7: 110,159,502 (GRCm39) |
D36A |
probably damaging |
Het |
| Sh3kbp1 |
C |
T |
X: 158,586,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,863,523 (GRCm39) |
R238S |
probably benign |
Het |
| Slc35e2 |
T |
A |
4: 155,703,019 (GRCm39) |
V344D |
probably damaging |
Het |
| Specc1 |
G |
A |
11: 62,019,194 (GRCm39) |
V678I |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,123,623 (GRCm39) |
D49G |
possibly damaging |
Het |
| Tecpr1 |
G |
A |
5: 144,146,821 (GRCm39) |
A515V |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,752,298 (GRCm39) |
|
probably null |
Het |
| Tmco5b |
A |
G |
2: 113,118,619 (GRCm39) |
E114G |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,688,690 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
T |
A |
10: 17,719,116 (GRCm39) |
V649E |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,651,818 (GRCm39) |
|
probably benign |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,214,211 (GRCm39) |
T314S |
probably benign |
Het |
| Zfp938 |
G |
T |
10: 82,061,906 (GRCm39) |
T238K |
possibly damaging |
Het |
|
| Other mutations in Araf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02484:Araf
|
APN |
X |
20,720,148 (GRCm39) |
splice site |
probably benign |
|
|
R1496:Araf
|
UTSW |
X |
20,725,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Araf
|
UTSW |
X |
20,717,912 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3732:Araf
|
UTSW |
X |
20,716,465 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6193:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6194:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6195:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6242:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6243:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6244:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6274:Araf
|
UTSW |
X |
20,726,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation