Incidental Mutation 'R9383:Odf2'
| ID |
710131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odf2
|
| Ensembl Gene |
ENSMUSG00000026790 |
| Gene Name |
outer dense fiber of sperm tails 2 |
| Synonyms |
cenexin, MMTEST29 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29779233-29821758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29791249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 181
(L181H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028128]
[ENSMUST00000046571]
[ENSMUST00000113755]
[ENSMUST00000113756]
[ENSMUST00000113757]
[ENSMUST00000113759]
[ENSMUST00000113762]
[ENSMUST00000113767]
[ENSMUST00000113763]
[ENSMUST00000113764]
[ENSMUST00000113765]
[ENSMUST00000123335]
[ENSMUST00000133233]
[ENSMUST00000184845]
|
| AlphaFold |
A3KGV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028128
AA Change: L118H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028128
Gene: ENSMUSG00000026790
AA Change: L118H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
197 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
284 |
1.04e-5 |
PROSPERO |
|
internal_repeat_1
|
447 |
481 |
1.04e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046571
AA Change: L132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049272
Gene: ENSMUSG00000026790
AA Change: L132H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
120 |
138 |
1.77e-5 |
PROSPERO |
|
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
218 |
236 |
1.77e-5 |
PROSPERO |
|
internal_repeat_1
|
262 |
298 |
8.12e-7 |
PROSPERO |
|
internal_repeat_1
|
461 |
495 |
8.12e-7 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113755
AA Change: L132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109384
Gene: ENSMUSG00000026790
AA Change: L132H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
298 |
2.12e-5 |
PROSPERO |
|
internal_repeat_1
|
461 |
495 |
2.12e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113756
AA Change: L132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109385
Gene: ENSMUSG00000026790
AA Change: L132H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
120 |
138 |
1.77e-5 |
PROSPERO |
|
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
218 |
236 |
1.77e-5 |
PROSPERO |
|
internal_repeat_1
|
262 |
298 |
8.12e-7 |
PROSPERO |
|
internal_repeat_1
|
461 |
495 |
8.12e-7 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113757
AA Change: L113H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790
AA Change: L113H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
101 |
119 |
9.13e-6 |
PROSPERO |
|
coiled coil region
|
120 |
192 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
199 |
217 |
9.13e-6 |
PROSPERO |
|
internal_repeat_1
|
243 |
279 |
3.83e-7 |
PROSPERO |
|
internal_repeat_1
|
442 |
476 |
3.83e-7 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113759
AA Change: L132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109388
Gene: ENSMUSG00000026790
AA Change: L132H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
120 |
138 |
1.82e-5 |
PROSPERO |
|
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
218 |
236 |
1.82e-5 |
PROSPERO |
|
internal_repeat_1
|
262 |
299 |
1.55e-6 |
PROSPERO |
|
internal_repeat_1
|
462 |
496 |
1.55e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113762
AA Change: L137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109391
Gene: ENSMUSG00000026790
AA Change: L137H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
144 |
216 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
267 |
303 |
1.9e-5 |
PROSPERO |
|
internal_repeat_1
|
466 |
500 |
1.9e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113767
AA Change: L181H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109396
Gene: ENSMUSG00000026790
AA Change: L181H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
260 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
311 |
347 |
3e-5 |
PROSPERO |
|
internal_repeat_1
|
510 |
544 |
3e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113763
AA Change: L118H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109392
Gene: ENSMUSG00000026790
AA Change: L118H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
197 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
284 |
1.04e-5 |
PROSPERO |
|
internal_repeat_1
|
447 |
481 |
1.04e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113764
AA Change: L118H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109393
Gene: ENSMUSG00000026790
AA Change: L118H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
125 |
197 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
284 |
1.04e-5 |
PROSPERO |
|
internal_repeat_1
|
447 |
481 |
1.04e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113765
AA Change: L137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790
AA Change: L137H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
125 |
143 |
1.66e-5 |
PROSPERO |
|
coiled coil region
|
144 |
216 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
223 |
241 |
1.66e-5 |
PROSPERO |
|
internal_repeat_1
|
267 |
303 |
7.56e-7 |
PROSPERO |
|
internal_repeat_1
|
466 |
500 |
7.56e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133233
AA Change: L113H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117887
Gene: ENSMUSG00000026790
AA Change: L136H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
143 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184845
AA Change: L132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790
AA Change: L132H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
298 |
3.95e-5 |
PROSPERO |
|
internal_repeat_1
|
461 |
495 |
3.95e-5 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality before implantation and transmission ratio distortion while all heterozygous males display normal development and fertility. Males heterozygous for other alleles are either infertile orshow reduced fertility. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(18) : Gene trapped(18) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,661,162 (GRCm39) |
E124G |
|
Het |
| Atp1a2 |
T |
C |
1: 172,107,334 (GRCm39) |
I729V |
probably benign |
Het |
| Ccn2 |
T |
G |
10: 24,471,883 (GRCm39) |
V58G |
possibly damaging |
Het |
| Chd2 |
T |
A |
7: 73,098,918 (GRCm39) |
E1467V |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,803,110 (GRCm39) |
D1285G |
unknown |
Het |
| Coro7 |
A |
G |
16: 4,452,888 (GRCm39) |
C287R |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,283,045 (GRCm39) |
E134G |
probably benign |
Het |
| Csf3r |
C |
T |
4: 125,937,239 (GRCm39) |
P708S |
possibly damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,646,819 (GRCm39) |
I1070K |
probably benign |
Het |
| Dnm2 |
G |
A |
9: 21,383,920 (GRCm39) |
V234M |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,350,287 (GRCm39) |
M82K |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,776,950 (GRCm39) |
E312K |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,756,620 (GRCm39) |
E1240G |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,028,918 (GRCm39) |
S479G |
probably damaging |
Het |
| Gpr153 |
T |
C |
4: 152,367,516 (GRCm39) |
S456P |
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,575,761 (GRCm39) |
M388K |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,227 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,684,883 (GRCm39) |
E244G |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,700,012 (GRCm39) |
C620S |
unknown |
Het |
| Maz |
G |
A |
7: 126,624,083 (GRCm39) |
Q358* |
probably null |
Het |
| Mcc |
A |
T |
18: 44,575,985 (GRCm39) |
I901N |
probably benign |
Het |
| Megf11 |
T |
G |
9: 64,545,732 (GRCm39) |
C172G |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,352,820 (GRCm39) |
Y53C |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,213,251 (GRCm39) |
T391I |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,918 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
G |
4: 115,891,473 (GRCm39) |
V302A |
probably benign |
Het |
| Opn1sw |
A |
G |
6: 29,378,000 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,854 (GRCm39) |
I17T |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,827,742 (GRCm39) |
Y712* |
probably null |
Het |
| Pkd1 |
C |
T |
17: 24,794,900 (GRCm39) |
R2196C |
probably damaging |
Het |
| Pkd1l3 |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
8: 110,350,601 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,359,612 (GRCm39) |
M385K |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,438,892 (GRCm39) |
V164A |
possibly damaging |
Het |
| Prr19 |
T |
A |
7: 25,002,335 (GRCm39) |
F11Y |
probably damaging |
Het |
| Prtg |
G |
T |
9: 72,757,143 (GRCm39) |
L355F |
probably benign |
Het |
| Raph1 |
C |
A |
1: 60,564,829 (GRCm39) |
M219I |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,839,094 (GRCm39) |
D140G |
possibly damaging |
Het |
| Serpina5 |
T |
C |
12: 104,070,131 (GRCm39) |
S343P |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,889,125 (GRCm39) |
K466R |
probably benign |
Het |
| Slc43a1 |
G |
A |
2: 84,690,506 (GRCm39) |
V518M |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,749 (GRCm39) |
L125P |
probably damaging |
Het |
| Slc4a7 |
C |
A |
14: 14,766,803 (GRCm38) |
C585* |
probably null |
Het |
| Snx19 |
A |
G |
9: 30,347,196 (GRCm39) |
E713G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,655,561 (GRCm39) |
V715M |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,278,043 (GRCm39) |
M322L |
probably benign |
Het |
| Top2a |
G |
A |
11: 98,901,884 (GRCm39) |
R449* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,796,474 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
A |
C |
13: 23,219,095 (GRCm39) |
R196S |
probably benign |
Het |
| Vmn1r43 |
A |
T |
6: 89,846,552 (GRCm39) |
H311Q |
possibly damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,247,009 (GRCm39) |
T308A |
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,354,479 (GRCm39) |
Y99N |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,355 (GRCm39) |
Y277C |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,503 (GRCm39) |
H345Y |
possibly damaging |
Het |
| Zyg11a |
T |
C |
4: 108,046,926 (GRCm39) |
E516G |
probably damaging |
Het |
|
| Other mutations in Odf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Odf2
|
APN |
2 |
29,783,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Odf2
|
APN |
2 |
29,804,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL01760:Odf2
|
APN |
2 |
29,804,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02487:Odf2
|
APN |
2 |
29,810,851 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03047:Odf2
|
APN |
2 |
29,810,907 (GRCm39) |
splice site |
probably benign |
|
|
IGL03057:Odf2
|
APN |
2 |
29,813,657 (GRCm39) |
intron |
probably benign |
|
|
IGL03064:Odf2
|
APN |
2 |
29,791,091 (GRCm39) |
missense |
probably benign |
0.28 |
|
3-1:Odf2
|
UTSW |
2 |
29,794,087 (GRCm39) |
nonsense |
probably null |
|
|
IGL02837:Odf2
|
UTSW |
2 |
29,816,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4025:Odf2
|
UTSW |
2 |
29,816,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Odf2
|
UTSW |
2 |
29,791,296 (GRCm39) |
intron |
probably benign |
|
|
R4357:Odf2
|
UTSW |
2 |
29,782,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4417:Odf2
|
UTSW |
2 |
29,805,333 (GRCm39) |
splice site |
probably benign |
|
|
R4512:Odf2
|
UTSW |
2 |
29,816,109 (GRCm39) |
splice site |
probably null |
|
|
R4705:Odf2
|
UTSW |
2 |
29,794,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Odf2
|
UTSW |
2 |
29,792,252 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5325:Odf2
|
UTSW |
2 |
29,802,583 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5614:Odf2
|
UTSW |
2 |
29,810,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6998:Odf2
|
UTSW |
2 |
29,802,629 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7740:Odf2
|
UTSW |
2 |
29,820,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7963:Odf2
|
UTSW |
2 |
29,816,112 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8548:Odf2
|
UTSW |
2 |
29,783,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9096:Odf2
|
UTSW |
2 |
29,783,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Odf2
|
UTSW |
2 |
29,816,815 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9313:Odf2
|
UTSW |
2 |
29,816,815 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9658:Odf2
|
UTSW |
2 |
29,779,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9722:Odf2
|
UTSW |
2 |
29,813,594 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAATAAGTACACTTCCGTCCG -3'
(R):5'- CCCAGCATGGTGGAAACTTAAG -3'
Sequencing Primer
(F):5'- GGCTTGGCCTTAGCAGCTTATC -3'
(R):5'- TGGAAACTTAAGCTGCCTGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation