Incidental Mutation 'IGL01782:Odf4'
| ID |
153955 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Odf4
|
| Ensembl Gene |
ENSMUSG00000032921 |
| Gene Name |
outer dense fiber of sperm tails 4 |
| Synonyms |
Oppo1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
68812661-68817907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68817459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 76
(H76Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038932]
[ENSMUST00000125134]
[ENSMUST00000130271]
|
| AlphaFold |
Q8VI88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038932
AA Change: H77Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040050
Gene: ENSMUSG00000032921
AA Change: H77Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
42 |
222 |
1.1e-8 |
PFAM |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125134
AA Change: H76Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133636
Gene: ENSMUSG00000032921
AA Change: H76Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130271
AA Change: H77Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134383
Gene: ENSMUSG00000032921
AA Change: H77Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156828
AA Change: H61Q
|
| SMART Domains |
Protein: ENSMUSP00000133569
Gene: ENSMUSG00000032921
AA Change: H61Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Odf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Odf4
|
APN |
11 |
68,812,778 (GRCm39) |
unclassified |
probably benign |
|
|
BB006:Odf4
|
UTSW |
11 |
68,813,759 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
BB016:Odf4
|
UTSW |
11 |
68,813,759 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0030:Odf4
|
UTSW |
11 |
68,817,767 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0030:Odf4
|
UTSW |
11 |
68,817,767 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1945:Odf4
|
UTSW |
11 |
68,812,983 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4551:Odf4
|
UTSW |
11 |
68,812,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4552:Odf4
|
UTSW |
11 |
68,812,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4685:Odf4
|
UTSW |
11 |
68,813,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4707:Odf4
|
UTSW |
11 |
68,817,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Odf4
|
UTSW |
11 |
68,813,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6657:Odf4
|
UTSW |
11 |
68,817,638 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7073:Odf4
|
UTSW |
11 |
68,817,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Odf4
|
UTSW |
11 |
68,813,249 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7778:Odf4
|
UTSW |
11 |
68,812,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7824:Odf4
|
UTSW |
11 |
68,812,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7929:Odf4
|
UTSW |
11 |
68,813,759 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9425:Odf4
|
UTSW |
11 |
68,813,810 (GRCm39) |
missense |
probably benign |
|
|
X0025:Odf4
|
UTSW |
11 |
68,817,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-02-04 |
Incidental Mutation