Incidental Mutation 'R6804:Olfm3'
| ID |
533475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm3
|
| Ensembl Gene |
ENSMUSG00000027965 |
| Gene Name |
olfactomedin 3 |
| Synonyms |
B230206G02Rik, optimedin |
| MMRRC Submission |
044917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
114697727-114919371 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114916328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 400
(Y400F)
|
| 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: Y420F
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060985
Gene: ENSMUSG00000027965
AA Change: Y420F
| 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: Y400F
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080448
Gene: ENSMUSG00000027965
AA Change: Y400F
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,343,757 (GRCm39) |
Q480L |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,303,792 (GRCm39) |
D72E |
probably benign |
Het |
| Avil |
C |
T |
10: 126,844,175 (GRCm39) |
Q245* |
probably null |
Het |
| BC048679 |
T |
C |
7: 81,146,612 (GRCm39) |
S2G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,773,622 (GRCm39) |
T1723A |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,152,604 (GRCm39) |
D202G |
probably damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,495 (GRCm39) |
Y56* |
probably null |
Het |
| Clec2i |
A |
G |
6: 128,872,384 (GRCm39) |
E172G |
probably damaging |
Het |
| Crybg1 |
C |
T |
10: 43,842,337 (GRCm39) |
D1785N |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,087,260 (GRCm39) |
R1930W |
probably damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,371 (GRCm39) |
S2019A |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,525,512 (GRCm39) |
Y1445* |
probably null |
Het |
| Gne |
A |
G |
4: 44,060,210 (GRCm39) |
I61T |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,947 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Kplce |
T |
C |
3: 92,776,354 (GRCm39) |
T110A |
possibly damaging |
Het |
| Llgl2 |
A |
G |
11: 115,734,141 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,239,376 (GRCm39) |
I417V |
probably benign |
Het |
| Mettl21e |
T |
A |
1: 44,257,295 (GRCm39) |
I8F |
probably benign |
Het |
| Ms4a2 |
A |
G |
19: 11,594,899 (GRCm39) |
Y183H |
probably damaging |
Het |
| Naip6 |
C |
G |
13: 100,435,675 (GRCm39) |
E949D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,994,874 (GRCm39) |
T181A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or12d2 |
A |
G |
17: 37,625,021 (GRCm39) |
S85P |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,240 (GRCm39) |
V237A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,852 (GRCm39) |
T132S |
probably benign |
Het |
| Or2y1e |
A |
G |
11: 49,218,808 (GRCm39) |
D190G |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,438 (GRCm39) |
S358G |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,700,564 (GRCm39) |
E259* |
probably null |
Het |
| Phlpp2 |
T |
A |
8: 110,655,197 (GRCm39) |
L664Q |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,390,635 (GRCm39) |
K1262R |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
GGCTTGCACGCCGT |
G |
7: 46,349,064 (GRCm39) |
|
probably null |
Het |
| Sec31a |
C |
T |
5: 100,530,671 (GRCm39) |
V701I |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,729,286 (GRCm39) |
R12S |
possibly damaging |
Het |
| Spocd1 |
T |
A |
4: 129,847,423 (GRCm39) |
C537* |
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,161 (GRCm39) |
E701G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,923,028 (GRCm39) |
Y32C |
possibly damaging |
Het |
| Tfeb |
T |
C |
17: 48,100,735 (GRCm39) |
|
probably null |
Het |
| Ttc13 |
C |
A |
8: 125,426,426 (GRCm39) |
R168L |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,350 (GRCm39) |
N385Y |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,363,792 (GRCm39) |
K367R |
probably benign |
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 |
|
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'- AATGGCTGATGAAATTGGTCTG -3'
(R):5'- CATGACATTTGCCTATGTGTCATC -3'
Sequencing Primer
(F):5'- CTGTGGGCTGTATATGCAACTAACC -3'
(R):5'- CTTCAGTCTTAATGATGTGGAACAGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation