Incidental Mutation 'R5924:Olfm3'
ID |
461704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfm3
|
Ensembl Gene |
ENSMUSG00000027965 |
Gene Name |
olfactomedin 3 |
Synonyms |
B230206G02Rik, optimedin |
MMRRC Submission |
044119-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5924 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
114697727-114919371 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114916187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 353
(Q353L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051309]
[ENSMUST00000081752]
[ENSMUST00000149158]
|
AlphaFold |
P63056 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051309
AA Change: Q373L
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000060985 Gene: ENSMUSG00000027965 AA Change: Q373L
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: Q353L
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000080448 Gene: ENSMUSG00000027965 AA Change: Q353L
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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,706,085 (GRCm39) |
Y76C |
probably damaging |
Het |
Agbl1 |
C |
T |
7: 76,058,982 (GRCm39) |
T204I |
probably benign |
Het |
Apc2 |
A |
T |
10: 80,147,984 (GRCm39) |
I984F |
probably damaging |
Het |
Art3 |
A |
T |
5: 92,560,091 (GRCm39) |
|
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,650,742 (GRCm39) |
M839V |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
Cdhr2 |
A |
C |
13: 54,874,496 (GRCm39) |
D856A |
probably benign |
Het |
Cep78 |
A |
T |
19: 15,938,430 (GRCm39) |
L506Q |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,554,205 (GRCm39) |
|
probably null |
Het |
Cyp3a44 |
A |
T |
5: 145,731,137 (GRCm39) |
F221Y |
possibly damaging |
Het |
Dcakd |
C |
A |
11: 102,890,646 (GRCm39) |
R47L |
probably benign |
Het |
Ddr2 |
A |
G |
1: 169,822,197 (GRCm39) |
V417A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,307,473 (GRCm39) |
T1734S |
probably benign |
Het |
Eefsec |
A |
T |
6: 88,332,529 (GRCm39) |
M227K |
probably damaging |
Het |
Eif4g3 |
T |
G |
4: 137,929,237 (GRCm39) |
N1628K |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,381,533 (GRCm39) |
Y439* |
probably null |
Het |
Esrp1 |
G |
T |
4: 11,361,174 (GRCm39) |
T324K |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,992,442 (GRCm39) |
Q418L |
unknown |
Het |
Ggnbp2 |
A |
G |
11: 84,749,363 (GRCm39) |
S144P |
possibly damaging |
Het |
Gk5 |
T |
C |
9: 96,032,563 (GRCm39) |
|
probably null |
Het |
Gpr137 |
A |
G |
19: 6,916,729 (GRCm39) |
L228P |
probably damaging |
Het |
Gpt2 |
C |
A |
8: 86,219,633 (GRCm39) |
S26R |
probably damaging |
Het |
Hras |
C |
T |
7: 140,772,374 (GRCm39) |
E91K |
possibly damaging |
Het |
Ighv1-36 |
G |
A |
12: 114,843,777 (GRCm39) |
P28S |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,064,203 (GRCm39) |
T807M |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,202,453 (GRCm39) |
T365A |
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,594,658 (GRCm39) |
S795T |
possibly damaging |
Het |
Magi2 |
A |
C |
5: 20,816,067 (GRCm39) |
M1128L |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,961,854 (GRCm39) |
|
probably null |
Het |
Mier1 |
T |
A |
4: 103,016,899 (GRCm39) |
L380* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,230,750 (GRCm39) |
Y118C |
probably damaging |
Het |
Myof |
A |
T |
19: 37,971,421 (GRCm39) |
M277K |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,503,403 (GRCm39) |
V473A |
probably damaging |
Het |
Nsfl1c |
T |
A |
2: 151,347,320 (GRCm39) |
N164K |
probably benign |
Het |
Opn5 |
A |
T |
17: 42,922,199 (GRCm39) |
M1K |
probably null |
Het |
Or2y3 |
A |
G |
17: 38,393,254 (GRCm39) |
V205A |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,139 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5d41 |
T |
C |
2: 88,054,891 (GRCm39) |
I162V |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,311,634 (GRCm39) |
S434P |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,023,389 (GRCm39) |
Q256* |
probably null |
Het |
Pik3ap1 |
A |
C |
19: 41,284,895 (GRCm39) |
F597V |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,646,424 (GRCm39) |
K744E |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,162,305 (GRCm39) |
T729A |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,813,582 (GRCm39) |
L652P |
probably damaging |
Het |
Sebox |
T |
C |
11: 78,395,017 (GRCm39) |
|
probably null |
Het |
Setd2 |
A |
T |
9: 110,403,112 (GRCm39) |
I1918F |
probably benign |
Het |
Slc24a2 |
A |
T |
4: 86,929,825 (GRCm39) |
|
probably null |
Het |
Slc28a1 |
G |
T |
7: 80,765,360 (GRCm39) |
G25V |
probably benign |
Het |
Slc51a |
A |
G |
16: 32,295,990 (GRCm39) |
F259L |
possibly damaging |
Het |
Slco2a1 |
T |
A |
9: 102,923,898 (GRCm39) |
C37* |
probably null |
Het |
Speer4f2 |
A |
G |
5: 17,581,622 (GRCm39) |
D188G |
probably damaging |
Het |
Stim2 |
A |
G |
5: 54,259,985 (GRCm39) |
K156E |
probably benign |
Het |
Strn4 |
T |
C |
7: 16,572,246 (GRCm39) |
I653T |
probably damaging |
Het |
Tacr3 |
G |
T |
3: 134,638,060 (GRCm39) |
D406Y |
possibly damaging |
Het |
Utp20 |
G |
A |
10: 88,651,784 (GRCm39) |
R400C |
probably benign |
Het |
V1rd19 |
C |
T |
7: 23,703,374 (GRCm39) |
S280L |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,296,685 (GRCm39) |
C700Y |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,803,543 (GRCm39) |
C514S |
probably damaging |
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 |
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 |
R8542: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'- CTAACCATGTTGTCTACAATGGCTC -3'
(R):5'- AAGGGGATGTCCGTGTACTC -3'
Sequencing Primer
(F):5'- CATCAAGTACAGCTTTGACTTAGGG -3'
(R):5'- TCCGTGTACTCATATGTGGAAG -3'
|
Posted On |
2017-02-28 |