Incidental Mutation 'R0436:Odf2l'
| ID |
38997 |
| 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 |
038637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R0436 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144824349-144859676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144831877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 44
(T44I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029920]
[ENSMUST00000098538]
[ENSMUST00000098539]
[ENSMUST00000106192]
[ENSMUST00000196552]
[ENSMUST00000196857]
[ENSMUST00000199124]
|
| AlphaFold |
Q9D478 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029920
AA Change: T44I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029920
Gene: ENSMUSG00000028256
AA Change: T44I
| 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 |
possibly damaging
Transcript: ENSMUST00000098538
AA Change: T44I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096140
Gene: ENSMUSG00000028256
AA Change: T44I
| 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 |
possibly damaging
Transcript: ENSMUST00000098539
AA Change: T44I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096141
Gene: ENSMUSG00000028256
AA Change: T44I
| 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 |
possibly damaging
Transcript: ENSMUST00000106192
AA Change: T44I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101798
Gene: ENSMUSG00000028256
AA Change: T44I
| 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 |
possibly damaging
Transcript: ENSMUST00000196857
AA Change: T44I
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143513
Gene: ENSMUSG00000028256
AA Change: T44I
| 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 |
possibly damaging
Transcript: ENSMUST00000199124
AA Change: T44I
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198764
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
C |
T |
8: 124,697,740 (GRCm39) |
G195S |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
| Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
| Btbd16 |
G |
A |
7: 130,387,783 (GRCm39) |
S134N |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,414,933 (GRCm39) |
L474Q |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
| Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
| Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
| Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
| Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
| Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
| Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
| Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
| Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
| Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
| Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,851 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AAGGTCCACGTCTTTTGGCCTCTG -3'
(R):5'- GCGCATTCATGGGCATGACATTG -3'
Sequencing Primer
(F):5'- GGCCTGGATGCTTATAGTCCTG -3'
(R):5'- GCATGACATTGAGATCTGAGTCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation