Incidental Mutation 'R8542:Olfm3'
ID |
659409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfm3
|
Ensembl Gene |
ENSMUSG00000027965 |
Gene Name |
olfactomedin 3 |
Synonyms |
B230206G02Rik, optimedin |
MMRRC Submission |
068507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R8542 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
114697727-114919371 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114916196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 376
(Q376L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051309]
[ENSMUST00000081752]
[ENSMUST00000149158]
|
AlphaFold |
P63056 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051309
AA Change: Q376L
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000060985 Gene: ENSMUSG00000027965 AA Change: Q376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Noelin-1
|
46 |
145 |
3.9e-52 |
PFAM |
Blast:OLF
|
162 |
207 |
3e-8 |
BLAST |
OLF
|
220 |
470 |
4.33e-114 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081752
AA Change: Q356L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080448 Gene: ENSMUSG00000027965 AA Change: Q356L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Noelin-1
|
25 |
125 |
7.6e-54 |
PFAM |
Blast:OLF
|
142 |
187 |
3e-8 |
BLAST |
OLF
|
200 |
450 |
4.33e-114 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149158
|
SMART Domains |
Protein: ENSMUSP00000121097 Gene: ENSMUSG00000027965
Domain | Start | End | E-Value | Type |
Pfam:Noelin-1
|
12 |
112 |
2.5e-51 |
PFAM |
Blast:OLF
|
129 |
174 |
1e-8 |
BLAST |
Blast:OLF
|
187 |
210 |
1e-7 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,634,369 (GRCm39) |
T634A |
probably benign |
Het |
Abca12 |
C |
T |
1: 71,349,047 (GRCm39) |
|
probably null |
Het |
Acsl5 |
A |
G |
19: 55,280,259 (GRCm39) |
T511A |
probably damaging |
Het |
Alkbh1 |
A |
G |
12: 87,478,275 (GRCm39) |
F212S |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,589,353 (GRCm39) |
I191V |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,428,385 (GRCm39) |
Q254R |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,121,208 (GRCm39) |
D957G |
probably benign |
Het |
Bag6 |
G |
A |
17: 35,363,334 (GRCm39) |
G725S |
probably damaging |
Het |
Braf |
T |
C |
6: 39,604,693 (GRCm39) |
H592R |
probably benign |
Het |
Cilp |
A |
T |
9: 65,185,405 (GRCm39) |
D500V |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,239,662 (GRCm39) |
|
probably null |
Het |
Defa3 |
T |
A |
8: 21,778,179 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,231,688 (GRCm39) |
H3272Y |
possibly damaging |
Het |
Egfl8 |
A |
G |
17: 34,833,243 (GRCm39) |
C168R |
probably damaging |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,174,055 (GRCm39) |
M240L |
possibly damaging |
Het |
Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
Ier5l |
A |
G |
2: 30,362,948 (GRCm39) |
I359T |
possibly damaging |
Het |
Impg1 |
C |
T |
9: 80,312,080 (GRCm39) |
E168K |
probably damaging |
Het |
Iqcn |
C |
A |
8: 71,166,520 (GRCm39) |
|
probably null |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Kctd2 |
G |
T |
11: 115,320,310 (GRCm39) |
|
probably benign |
Het |
Kdm5b |
A |
T |
1: 134,533,512 (GRCm39) |
M534L |
possibly damaging |
Het |
Kif14 |
T |
A |
1: 136,396,495 (GRCm39) |
V267D |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,310,096 (GRCm39) |
|
probably null |
Het |
Lmod1 |
T |
C |
1: 135,292,221 (GRCm39) |
F359L |
possibly damaging |
Het |
Mmp24 |
A |
G |
2: 155,641,634 (GRCm39) |
E154G |
probably benign |
Het |
Morc3 |
G |
T |
16: 93,644,319 (GRCm39) |
|
probably null |
Het |
Mtus2 |
A |
C |
5: 148,240,408 (GRCm39) |
K85T |
probably damaging |
Het |
Ncam1 |
G |
T |
9: 49,419,898 (GRCm39) |
T806K |
probably damaging |
Het |
Noc2l |
A |
G |
4: 156,326,187 (GRCm39) |
T425A |
probably benign |
Het |
Or52m2 |
A |
G |
7: 102,263,872 (GRCm39) |
V108A |
probably benign |
Het |
Pax5 |
A |
T |
4: 44,570,071 (GRCm39) |
Y272N |
probably damaging |
Het |
Pfkp |
G |
T |
13: 6,631,557 (GRCm39) |
A166E |
possibly damaging |
Het |
Pnpt1 |
C |
A |
11: 29,082,773 (GRCm39) |
|
probably null |
Het |
Prss40 |
A |
G |
1: 34,596,967 (GRCm39) |
W76R |
probably damaging |
Het |
Rbms1 |
A |
C |
2: 60,612,265 (GRCm39) |
V165G |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rpl3l |
A |
G |
17: 24,954,754 (GRCm39) |
D369G |
probably damaging |
Het |
Sdr42e2 |
C |
A |
7: 120,417,137 (GRCm39) |
P194Q |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,566,401 (GRCm39) |
S111P |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
St6galnac6 |
T |
A |
2: 32,509,513 (GRCm39) |
I305N |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,807,834 (GRCm39) |
E1288G |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,783 (GRCm39) |
E1755G |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,461,139 (GRCm39) |
D895V |
probably damaging |
Het |
Tmem190 |
T |
A |
7: 4,787,157 (GRCm39) |
C120* |
probably null |
Het |
Tmem209 |
C |
A |
6: 30,497,237 (GRCm39) |
V318F |
probably damaging |
Het |
Traf3ip3 |
T |
A |
1: 192,876,851 (GRCm39) |
I196F |
probably damaging |
Het |
Trpc4ap |
G |
C |
2: 155,534,132 (GRCm39) |
P32R |
unknown |
Het |
Usp20 |
T |
G |
2: 30,901,636 (GRCm39) |
V467G |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,410,787 (GRCm39) |
K206R |
probably damaging |
Het |
Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
Zfp629 |
C |
A |
7: 127,210,364 (GRCm39) |
E482* |
probably null |
Het |
|
Other mutations in Olfm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01656:Olfm3
|
APN |
3 |
114,916,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01686:Olfm3
|
APN |
3 |
114,916,497 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01732:Olfm3
|
APN |
3 |
114,890,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02539:Olfm3
|
APN |
3 |
114,895,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02580:Olfm3
|
APN |
3 |
114,916,157 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Olfm3
|
APN |
3 |
114,916,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03142:Olfm3
|
APN |
3 |
114,890,679 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03239:Olfm3
|
APN |
3 |
114,916,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R0361:Olfm3
|
UTSW |
3 |
114,914,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Olfm3
|
UTSW |
3 |
114,916,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R0505:Olfm3
|
UTSW |
3 |
114,916,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0689:Olfm3
|
UTSW |
3 |
114,916,194 (GRCm39) |
missense |
probably benign |
0.28 |
R0973:Olfm3
|
UTSW |
3 |
114,895,635 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Olfm3
|
UTSW |
3 |
114,895,635 (GRCm39) |
missense |
probably benign |
0.00 |
R0974:Olfm3
|
UTSW |
3 |
114,895,635 (GRCm39) |
missense |
probably benign |
0.00 |
R1253:Olfm3
|
UTSW |
3 |
114,916,418 (GRCm39) |
missense |
probably damaging |
0.98 |
R1293:Olfm3
|
UTSW |
3 |
114,895,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1952:Olfm3
|
UTSW |
3 |
114,895,589 (GRCm39) |
missense |
probably null |
1.00 |
R2255:Olfm3
|
UTSW |
3 |
114,915,842 (GRCm39) |
splice site |
probably null |
|
R2334:Olfm3
|
UTSW |
3 |
114,895,608 (GRCm39) |
nonsense |
probably null |
|
R2510:Olfm3
|
UTSW |
3 |
114,915,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4222:Olfm3
|
UTSW |
3 |
114,883,820 (GRCm39) |
nonsense |
probably null |
|
R4716:Olfm3
|
UTSW |
3 |
114,874,755 (GRCm39) |
missense |
probably benign |
0.00 |
R4912:Olfm3
|
UTSW |
3 |
114,895,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Olfm3
|
UTSW |
3 |
114,698,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5649:Olfm3
|
UTSW |
3 |
114,890,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R5681:Olfm3
|
UTSW |
3 |
114,915,924 (GRCm39) |
missense |
probably benign |
0.28 |
R5861:Olfm3
|
UTSW |
3 |
114,916,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5924:Olfm3
|
UTSW |
3 |
114,916,187 (GRCm39) |
missense |
probably benign |
0.44 |
R5929:Olfm3
|
UTSW |
3 |
114,895,529 (GRCm39) |
missense |
probably damaging |
0.97 |
R5958:Olfm3
|
UTSW |
3 |
114,915,955 (GRCm39) |
missense |
probably damaging |
0.99 |
R6166:Olfm3
|
UTSW |
3 |
114,916,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Olfm3
|
UTSW |
3 |
114,914,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Olfm3
|
UTSW |
3 |
114,916,328 (GRCm39) |
missense |
probably benign |
0.10 |
R7032:Olfm3
|
UTSW |
3 |
114,883,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R7565:Olfm3
|
UTSW |
3 |
114,916,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R7600:Olfm3
|
UTSW |
3 |
114,890,589 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7976:Olfm3
|
UTSW |
3 |
114,874,794 (GRCm39) |
missense |
probably benign |
0.00 |
R8070:Olfm3
|
UTSW |
3 |
114,895,604 (GRCm39) |
missense |
probably damaging |
0.96 |
R8334:Olfm3
|
UTSW |
3 |
114,916,206 (GRCm39) |
missense |
probably damaging |
0.96 |
R8527:Olfm3
|
UTSW |
3 |
114,916,196 (GRCm39) |
missense |
probably benign |
0.10 |
R8835:Olfm3
|
UTSW |
3 |
114,916,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R9063:Olfm3
|
UTSW |
3 |
114,914,582 (GRCm39) |
missense |
probably benign |
0.36 |
R9594:Olfm3
|
UTSW |
3 |
114,883,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R9690:Olfm3
|
UTSW |
3 |
114,890,594 (GRCm39) |
nonsense |
probably null |
|
R9690:Olfm3
|
UTSW |
3 |
114,890,593 (GRCm39) |
missense |
probably benign |
0.39 |
R9719:Olfm3
|
UTSW |
3 |
114,916,091 (GRCm39) |
nonsense |
probably null |
|
Z1088:Olfm3
|
UTSW |
3 |
114,698,317 (GRCm39) |
start gained |
probably benign |
|
Z1177:Olfm3
|
UTSW |
3 |
114,874,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACTTAGGGAGAGTGCTAGCC -3'
(R):5'- TGTTCCAGGCATAAAGAGCTC -3'
Sequencing Primer
(F):5'- GTGCTAGCCCAAAGAAGCCTG -3'
(R):5'- GTTCCAGGCATAAAGAGCTCTATCTC -3'
|
Posted On |
2021-01-18 |