Incidental Mutation 'R5958:Olfm3'
| ID |
471271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm3
|
| Ensembl Gene |
ENSMUSG00000027965 |
| Gene Name |
olfactomedin 3 |
| Synonyms |
B230206G02Rik, optimedin |
| MMRRC Submission |
044145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
114697727-114919371 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 114915955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 276
(V276I)
|
| 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: V296I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060985
Gene: ENSMUSG00000027965
AA Change: V296I
| 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 damaging
Transcript: ENSMUST00000081752
AA Change: V276I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080448
Gene: ENSMUSG00000027965
AA Change: V276I
| 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 |
|
| Meta Mutation Damage Score |
0.2527 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
95% (75/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
| Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
| Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
| Camk2d |
T |
G |
3: 126,573,514 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
| Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
| Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
| Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,225,788 (GRCm39) |
Y792C |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
| Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
| Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
| Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
| Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
| Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
| Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
| Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
| Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
| Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,686 (GRCm39) |
M20L |
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 |
|
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'- GTCCAGGACTTAATCATTCCATTTG -3'
(R):5'- GATGACAATATTGCCTGCATTCTGG -3'
Sequencing Primer
(F):5'- GGACTTAATCATTCCATTTGTTTCTC -3'
(R):5'- GGTTAGTTGCATATACAGCCCACAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation