Incidental Mutation 'R5455:Olfm5'
| ID |
432717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm5
|
| Ensembl Gene |
ENSMUSG00000044265 |
| Gene Name |
olfactomedin 5 |
| Synonyms |
E030002O03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103802220-103814023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103803669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 265
(R265G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051137]
[ENSMUST00000059121]
[ENSMUST00000154555]
|
| AlphaFold |
Q8BU90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051137
AA Change: R265G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265
AA Change: R265G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
85 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
198 |
N/A |
INTRINSIC |
|
OLF
|
211 |
468 |
3.13e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059121
|
| SMART Domains |
Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
31 |
101 |
5.13e-16 |
SMART |
|
Blast:STI1
|
199 |
237 |
8e-11 |
BLAST |
|
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
419 |
N/A |
INTRINSIC |
|
PDB:2DNA|A
|
561 |
610 |
3e-26 |
PDB |
|
Blast:UBA
|
568 |
604 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154555
AA Change: R190G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265
AA Change: R190G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
47 |
123 |
N/A |
INTRINSIC |
|
OLF
|
136 |
304 |
3.65e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
Het |
|
| Other mutations in Olfm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01843:Olfm5
|
APN |
7 |
103,809,951 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02097:Olfm5
|
APN |
7 |
103,803,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02322:Olfm5
|
APN |
7 |
103,803,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02324:Olfm5
|
APN |
7 |
103,803,302 (GRCm39) |
splice site |
probably null |
|
|
IGL02702:Olfm5
|
APN |
7 |
103,803,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Olfm5
|
UTSW |
7 |
103,810,133 (GRCm39) |
missense |
probably benign |
|
|
R0400:Olfm5
|
UTSW |
7 |
103,803,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Olfm5
|
UTSW |
7 |
103,803,076 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Olfm5
|
UTSW |
7 |
103,803,652 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Olfm5
|
UTSW |
7 |
103,803,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Olfm5
|
UTSW |
7 |
103,809,619 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1978:Olfm5
|
UTSW |
7 |
103,813,948 (GRCm39) |
missense |
unknown |
|
|
R2391:Olfm5
|
UTSW |
7 |
103,810,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3774:Olfm5
|
UTSW |
7 |
103,811,056 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4632:Olfm5
|
UTSW |
7 |
103,810,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Olfm5
|
UTSW |
7 |
103,809,685 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4838:Olfm5
|
UTSW |
7 |
103,803,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Olfm5
|
UTSW |
7 |
103,809,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Olfm5
|
UTSW |
7 |
103,803,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Olfm5
|
UTSW |
7 |
103,803,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Olfm5
|
UTSW |
7 |
103,809,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Olfm5
|
UTSW |
7 |
103,803,444 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7682:Olfm5
|
UTSW |
7 |
103,810,979 (GRCm39) |
missense |
probably null |
0.49 |
|
R7835:Olfm5
|
UTSW |
7 |
103,803,652 (GRCm39) |
nonsense |
probably null |
|
|
R8308:Olfm5
|
UTSW |
7 |
103,803,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Olfm5
|
UTSW |
7 |
103,803,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9035:Olfm5
|
UTSW |
7 |
103,803,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Olfm5
|
UTSW |
7 |
103,802,984 (GRCm39) |
missense |
probably benign |
|
|
R9185:Olfm5
|
UTSW |
7 |
103,810,095 (GRCm39) |
nonsense |
probably null |
|
|
X0011:Olfm5
|
UTSW |
7 |
103,803,153 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Olfm5
|
UTSW |
7 |
103,803,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAGCACTAGGGTGTTAG -3'
(R):5'- TAAATGCCATATGAGACTTCCCA -3'
Sequencing Primer
(F):5'- CACTAGGGTGTTAGAGGAAAGGTCC -3'
(R):5'- ATGTACACATCTTTAGGGCTGACCG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation