Incidental Mutation 'R7008:Odf2l'
ID |
544816 |
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 |
045110-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
R7008 (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 144838495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 241
(K241E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029920]
[ENSMUST00000098538]
[ENSMUST00000098539]
[ENSMUST00000106192]
[ENSMUST00000196552]
[ENSMUST00000196857]
|
AlphaFold |
Q9D478 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029920
AA Change: K198E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029920 Gene: ENSMUSG00000028256 AA Change: K198E
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: K241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096140 Gene: ENSMUSG00000028256 AA Change: K241E
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: K241E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096141 Gene: ENSMUSG00000028256 AA Change: K241E
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: K241E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101798 Gene: ENSMUSG00000028256 AA Change: K241E
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196857
|
SMART Domains |
Protein: ENSMUSP00000143513 Gene: ENSMUSG00000028256
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
Osbpl10 |
T |
G |
9: 114,890,916 (GRCm39) |
D101E |
probably damaging |
Het |
Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,612,561 (GRCm39) |
Y460C |
probably damaging |
Het |
Sipa1l1 |
T |
G |
12: 82,409,886 (GRCm39) |
M600R |
probably damaging |
Het |
Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,535,005 (GRCm39) |
L721P |
probably benign |
Het |
Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,355,421 (GRCm39) |
F216L |
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 |
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 |
|
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'- ACAAGAAGCTTTGGTTATATCACCC -3'
(R):5'- TCTAACCCTGCTAACTGTAACC -3'
Sequencing Primer
(F):5'- AAGCTTTGGTTATATCACCCCTTATC -3'
(R):5'- TGCTAACTGTAACCCTGCTC -3'
|
Posted On |
2019-05-13 |