Incidental Mutation 'R2391:Olfm5'
| ID |
247761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm5
|
| Ensembl Gene |
ENSMUSG00000044265 |
| Gene Name |
olfactomedin 5 |
| Synonyms |
E030002O03Rik |
| MMRRC Submission |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2391 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103802220-103814023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103810041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 107
(S107P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051137]
[ENSMUST00000154555]
|
| AlphaFold |
Q8BU90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051137
AA Change: S107P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265
AA Change: S107P
| 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: ENSMUST00000154555
|
| SMART Domains |
Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Or10q3 |
G |
T |
19: 11,848,180 (GRCm39) |
Y133* |
probably null |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,534,799 (GRCm39) |
D290G |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,504 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Slc6a20a |
A |
T |
9: 123,493,686 (GRCm39) |
V65E |
probably damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trim12a |
T |
C |
7: 103,956,138 (GRCm39) |
E134G |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
probably damaging |
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 |
|
|
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 |
|
R5455:Olfm5
|
UTSW |
7 |
103,803,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CTGTGAGCGTAAGGGAAGACTC -3'
(R):5'- AGAACTGGAATGTCCTCAGGTAAG -3'
Sequencing Primer
(F):5'- GCGTAAGGGAAGACTCTTTAATG -3'
(R):5'- CTGGAATGTCCTCAGGTAAGAAATG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation