Incidental Mutation 'R7600:Olfm3'
ID |
587951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfm3
|
Ensembl Gene |
ENSMUSG00000027965 |
Gene Name |
olfactomedin 3 |
Synonyms |
B230206G02Rik, optimedin |
MMRRC Submission |
045642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R7600 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
114697727-114919371 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114890589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051309]
[ENSMUST00000081752]
[ENSMUST00000149158]
|
AlphaFold |
P63056 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051309
AA Change: V114A
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000060985 Gene: ENSMUSG00000027965 AA Change: V114A
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 |
possibly damaging
Transcript: ENSMUST00000081752
AA Change: V94A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080448 Gene: ENSMUSG00000027965 AA Change: V94A
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 |
possibly damaging
Transcript: ENSMUST00000149158
AA Change: V81A
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121097 Gene: ENSMUSG00000027965 AA Change: V81A
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
A |
8: 41,208,854 (GRCm39) |
V707I |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,981,938 (GRCm39) |
D1074V |
possibly damaging |
Het |
Aldh4a1 |
A |
G |
4: 139,372,315 (GRCm39) |
M495V |
probably benign |
Het |
Atxn1 |
T |
G |
13: 45,710,536 (GRCm39) |
K799Q |
possibly damaging |
Het |
Catsperg2 |
A |
T |
7: 29,404,283 (GRCm39) |
S831T |
probably benign |
Het |
Cldn1 |
T |
C |
16: 26,179,669 (GRCm39) |
T133A |
probably benign |
Het |
Clec12b |
A |
G |
6: 129,353,226 (GRCm39) |
C254R |
probably damaging |
Het |
Cnnm2 |
A |
T |
19: 46,750,506 (GRCm39) |
T99S |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,944,198 (GRCm39) |
D1092A |
possibly damaging |
Het |
Dnajc9 |
A |
G |
14: 20,438,793 (GRCm39) |
L20P |
probably damaging |
Het |
Dsp |
C |
A |
13: 38,375,691 (GRCm39) |
Q1159K |
probably damaging |
Het |
Dst |
C |
T |
1: 34,306,011 (GRCm39) |
T4110I |
probably damaging |
Het |
Epb42 |
A |
G |
2: 120,852,307 (GRCm39) |
L562P |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,832,295 (GRCm39) |
Y1543H |
probably damaging |
Het |
Igkv1-117 |
T |
A |
6: 68,098,100 (GRCm39) |
V9E |
possibly damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,099,573 (GRCm39) |
Y361N |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,391,575 (GRCm39) |
R2948H |
probably benign |
Het |
Lrp10 |
G |
T |
14: 54,706,852 (GRCm39) |
R563L |
possibly damaging |
Het |
Mllt3 |
G |
T |
4: 87,759,456 (GRCm39) |
H197Q |
probably benign |
Het |
Myo18b |
G |
A |
5: 113,025,969 (GRCm39) |
P27L |
unknown |
Het |
Nlrp1a |
C |
A |
11: 70,989,740 (GRCm39) |
R1110L |
probably damaging |
Het |
Nol10 |
T |
G |
12: 17,419,481 (GRCm39) |
D257E |
probably damaging |
Het |
Or2a57 |
C |
A |
6: 43,212,770 (GRCm39) |
T76K |
probably damaging |
Het |
Or2t43 |
T |
C |
11: 58,458,162 (GRCm39) |
N3S |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,372,820 (GRCm39) |
D2438E |
probably damaging |
Het |
Prl7a2 |
T |
G |
13: 27,843,264 (GRCm39) |
I180L |
possibly damaging |
Het |
Ptch2 |
A |
T |
4: 116,953,422 (GRCm39) |
|
probably benign |
Het |
Snrpn |
A |
G |
7: 59,638,351 (GRCm39) |
M1T |
probably null |
Het |
Sntb1 |
A |
T |
15: 55,655,584 (GRCm39) |
W211R |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,025,352 (GRCm39) |
S447P |
probably benign |
Het |
Tas2r129 |
G |
T |
6: 132,928,137 (GRCm39) |
G25* |
probably null |
Het |
Tcstv7a |
A |
T |
13: 120,290,232 (GRCm39) |
|
probably null |
Het |
Tle2 |
T |
G |
10: 81,422,147 (GRCm39) |
Y396* |
probably null |
Het |
Trpm2 |
T |
C |
10: 77,773,885 (GRCm39) |
K510R |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,903,458 (GRCm39) |
T1073A |
possibly damaging |
Het |
Ttc24 |
A |
T |
3: 87,979,320 (GRCm39) |
M1K |
probably null |
Het |
Tubgcp5 |
A |
G |
7: 55,458,261 (GRCm39) |
T391A |
probably benign |
Het |
Vmn1r17 |
T |
C |
6: 57,337,906 (GRCm39) |
E153G |
probably benign |
Het |
Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
Zcwpw1 |
A |
T |
5: 137,798,396 (GRCm39) |
K198* |
probably null |
Het |
Zfp142 |
A |
G |
1: 74,612,827 (GRCm39) |
V641A |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,695,210 (GRCm39) |
A149V |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,092 (GRCm39) |
N165S |
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 |
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 |
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'- GGGTATTATCACCTTTTGAAGCC -3'
(R):5'- ACTTGGTGAATGGGCACAGG -3'
Sequencing Primer
(F):5'- TGAGACAACAGACATTTATTTGCC -3'
(R):5'- GGGCACAGGAATAGTTATTTCCAAC -3'
|
Posted On |
2019-10-24 |