Incidental Mutation 'R6031:Odf2l'
| ID |
486257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odf2l
|
| Ensembl Gene |
ENSMUSG00000028256 |
| Gene Name |
outer dense fiber of sperm tails 2-like |
| Synonyms |
4733401D09Rik, 9630045K08Rik |
| MMRRC Submission |
044203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R6031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144824349-144859676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144845624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 334
(Q334R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029920]
[ENSMUST00000098538]
[ENSMUST00000098539]
[ENSMUST00000106192]
|
| AlphaFold |
Q9D478 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029920
AA Change: Q334R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029920
Gene: ENSMUSG00000028256
AA Change: Q334R
| 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: Q377R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096140
Gene: ENSMUSG00000028256
AA Change: Q377R
| 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 damaging
Transcript: ENSMUST00000098539
AA Change: Q377R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096141
Gene: ENSMUSG00000028256
AA Change: Q377R
| 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 damaging
Transcript: ENSMUST00000106192
AA Change: Q377R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101798
Gene: ENSMUSG00000028256
AA Change: Q377R
| 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
AA Change: Q16R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198764
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
| Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
| Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
| Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
| Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,108,608 (GRCm39) |
D237G |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
| Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
| Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
| Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
| Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
| Med23 |
C |
T |
10: 24,779,646 (GRCm39) |
R542* |
probably null |
Het |
| Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
| Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
| Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
| RP23-145I16.3 |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,125,401 (GRCm39) |
C204S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,278,038 (GRCm39) |
V139A |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
| Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,809,732 (GRCm39) |
D3G |
possibly damaging |
Het |
| Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
probably benign |
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 |
|
IGL00821:Odf2l
|
APN |
3 |
144,856,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCATTGCTGTTGATGAATGAG -3'
(R):5'- TTCATAAGCAGAGCTAGCATCTGG -3'
Sequencing Primer
(F):5'- CCATTGCTGTTGATGAATGAGTTATG -3'
(R):5'- CAACTTTATGAAGGCACATGGGGTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation