Incidental Mutation 'IGL00821:Odf2l'
| ID |
13661 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Odf2l
|
| Ensembl Gene |
ENSMUSG00000028256 |
| Gene Name |
outer dense fiber of sperm tails 2-like |
| Synonyms |
4733401D09Rik, 9630045K08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL00821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
144824349-144859676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144856748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 568
(S568T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029920]
[ENSMUST00000098538]
[ENSMUST00000098539]
[ENSMUST00000106192]
[ENSMUST00000200353]
|
| AlphaFold |
Q9D478 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029920
AA Change: S472T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029920
Gene: ENSMUSG00000028256
AA Change: S472T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
58 |
N/A |
INTRINSIC |
|
coiled coil region
|
85 |
183 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
367 |
N/A |
INTRINSIC |
|
coiled coil region
|
388 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098538
AA Change: S568T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096140
Gene: ENSMUSG00000028256
AA Change: S568T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
128 |
226 |
N/A |
INTRINSIC |
|
coiled coil region
|
249 |
604 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098539
AA Change: S515T
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096141
Gene: ENSMUSG00000028256
AA Change: S515T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
128 |
226 |
N/A |
INTRINSIC |
|
coiled coil region
|
249 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106192
AA Change: S515T
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101798
Gene: ENSMUSG00000028256
AA Change: S515T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
128 |
226 |
N/A |
INTRINSIC |
|
coiled coil region
|
249 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200353
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
| Cpa2 |
A |
G |
6: 30,564,411 (GRCm39) |
D414G |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
| F7 |
A |
G |
8: 13,078,802 (GRCm39) |
T78A |
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,217,106 (GRCm39) |
|
probably null |
Het |
| Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
| Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
| Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
| Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
| Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
| Ubxn7 |
G |
A |
16: 32,188,216 (GRCm39) |
D125N |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
| Zfp839 |
T |
C |
12: 110,831,441 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Odf2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00685:Odf2l
|
APN |
3 |
144,833,634 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01984:Odf2l
|
APN |
3 |
144,845,590 (GRCm39) |
nonsense |
probably null |
|
|
R0080:Odf2l
|
UTSW |
3 |
144,830,084 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0133:Odf2l
|
UTSW |
3 |
144,854,302 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0436:Odf2l
|
UTSW |
3 |
144,831,877 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1218:Odf2l
|
UTSW |
3 |
144,854,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Odf2l
|
UTSW |
3 |
144,854,797 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1677:Odf2l
|
UTSW |
3 |
144,845,543 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1884:Odf2l
|
UTSW |
3 |
144,856,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Odf2l
|
UTSW |
3 |
144,854,785 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2910:Odf2l
|
UTSW |
3 |
144,830,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2911:Odf2l
|
UTSW |
3 |
144,830,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4552:Odf2l
|
UTSW |
3 |
144,856,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4640:Odf2l
|
UTSW |
3 |
144,834,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Odf2l
|
UTSW |
3 |
144,833,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5472:Odf2l
|
UTSW |
3 |
144,852,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5769:Odf2l
|
UTSW |
3 |
144,841,492 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5877:Odf2l
|
UTSW |
3 |
144,834,771 (GRCm39) |
splice site |
probably null |
|
|
R6026:Odf2l
|
UTSW |
3 |
144,854,797 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6031:Odf2l
|
UTSW |
3 |
144,845,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Odf2l
|
UTSW |
3 |
144,845,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Odf2l
|
UTSW |
3 |
144,841,479 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6454:Odf2l
|
UTSW |
3 |
144,859,181 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6462:Odf2l
|
UTSW |
3 |
144,852,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Odf2l
|
UTSW |
3 |
144,854,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7008:Odf2l
|
UTSW |
3 |
144,838,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Odf2l
|
UTSW |
3 |
144,845,581 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7151:Odf2l
|
UTSW |
3 |
144,832,827 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7542:Odf2l
|
UTSW |
3 |
144,859,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:Odf2l
|
UTSW |
3 |
144,854,345 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7811:Odf2l
|
UTSW |
3 |
144,859,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7816:Odf2l
|
UTSW |
3 |
144,856,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Odf2l
|
UTSW |
3 |
144,859,244 (GRCm39) |
nonsense |
probably null |
|
|
R8090:Odf2l
|
UTSW |
3 |
144,832,796 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8205:Odf2l
|
UTSW |
3 |
144,856,495 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8222:Odf2l
|
UTSW |
3 |
144,833,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Odf2l
|
UTSW |
3 |
144,833,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8832:Odf2l
|
UTSW |
3 |
144,833,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8862:Odf2l
|
UTSW |
3 |
144,833,758 (GRCm39) |
unclassified |
probably benign |
|
|
R9136:Odf2l
|
UTSW |
3 |
144,851,698 (GRCm39) |
missense |
|
|
|
R9778:Odf2l
|
UTSW |
3 |
144,854,789 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2012-12-06 |
Incidental Mutation