Incidental Mutation 'R2911:Odf2l'
| ID |
261234 |
| 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 |
040498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R2911 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144824349-144859676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 144830084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 19
(I19L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029920]
[ENSMUST00000098538]
[ENSMUST00000098539]
[ENSMUST00000106192]
[ENSMUST00000196552]
[ENSMUST00000196857]
[ENSMUST00000199124]
|
| AlphaFold |
Q9D478 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029920
AA Change: I19L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029920
Gene: ENSMUSG00000028256
AA Change: I19L
| 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 benign
Transcript: ENSMUST00000098538
AA Change: I19L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096140
Gene: ENSMUSG00000028256
AA Change: I19L
| 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: I19L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096141
Gene: ENSMUSG00000028256
AA Change: I19L
| 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: I19L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101798
Gene: ENSMUSG00000028256
AA Change: I19L
| 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: ENSMUST00000196552
AA Change: I19L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196857
AA Change: I19L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143513
Gene: ENSMUSG00000028256
AA Change: I19L
| 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 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199124
AA Change: I19L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198764
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
| Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
| Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
| Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
| Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAACTAGAACATAAGTGAGTAGCAT -3'
(R):5'- CCCTAACCTGCTGAGTAAGTATT -3'
Sequencing Primer
(F):5'- CCTGGAGCTTGCTAGGTAAAC -3'
(R):5'- AGGGCTATTCGTGAATGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation