Incidental Mutation 'R0024:Sycp2l'
ID |
64484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sycp2l
|
Ensembl Gene |
ENSMUSG00000038651 |
Gene Name |
synaptonemal complex protein 2-like |
Synonyms |
Gm40956, LOC218175, EG621792 |
MMRRC Submission |
038319-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R0024 (G1)
|
Quality Score |
97 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
41267895-41327827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41295264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 310
(I310M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124093]
|
AlphaFold |
A0A0M3U1B0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124093
AA Change: I310M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.2220 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (47/48) |
MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele exhibit early reproductive senescence. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,032,608 (GRCm39) |
D209V |
probably damaging |
Het |
Abtb3 |
A |
G |
10: 85,223,311 (GRCm39) |
D40G |
unknown |
Het |
Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
Chdh |
G |
A |
14: 29,753,553 (GRCm39) |
R154H |
possibly damaging |
Het |
Emid1 |
A |
T |
11: 5,093,869 (GRCm39) |
W93R |
probably damaging |
Het |
Grid2ip |
T |
A |
5: 143,376,796 (GRCm39) |
S947T |
probably damaging |
Het |
Gstt4 |
T |
A |
10: 75,653,038 (GRCm39) |
M175L |
possibly damaging |
Het |
Hectd4 |
C |
T |
5: 121,446,639 (GRCm39) |
T242I |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
Kif13b |
A |
G |
14: 64,987,722 (GRCm39) |
I750V |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
Myof |
G |
T |
19: 37,904,188 (GRCm39) |
T4N |
probably damaging |
Het |
Or2r3 |
A |
G |
6: 42,448,194 (GRCm39) |
M306T |
probably benign |
Het |
P3h3 |
T |
C |
6: 124,834,421 (GRCm39) |
Q77R |
probably benign |
Het |
Picalm |
T |
C |
7: 89,779,912 (GRCm39) |
|
probably null |
Het |
Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,581,568 (GRCm39) |
L141P |
probably damaging |
Het |
Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
Rgs5 |
T |
A |
1: 169,504,461 (GRCm39) |
V37D |
probably damaging |
Het |
Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
Ssh2 |
A |
T |
11: 77,345,792 (GRCm39) |
Q1259L |
possibly damaging |
Het |
Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
Other mutations in Sycp2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4531001:Sycp2l
|
UTSW |
13 |
41,300,148 (GRCm39) |
missense |
probably null |
0.00 |
R0016:Sycp2l
|
UTSW |
13 |
41,310,976 (GRCm39) |
intron |
probably benign |
|
R0024:Sycp2l
|
UTSW |
13 |
41,295,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0099:Sycp2l
|
UTSW |
13 |
41,283,001 (GRCm39) |
splice site |
probably benign |
|
R0471:Sycp2l
|
UTSW |
13 |
41,304,006 (GRCm39) |
splice site |
probably null |
|
R0582:Sycp2l
|
UTSW |
13 |
41,291,431 (GRCm39) |
splice site |
probably benign |
|
R0605:Sycp2l
|
UTSW |
13 |
41,296,942 (GRCm39) |
missense |
probably benign |
0.22 |
R1311:Sycp2l
|
UTSW |
13 |
41,288,661 (GRCm39) |
nonsense |
probably null |
|
R1999:Sycp2l
|
UTSW |
13 |
41,271,780 (GRCm39) |
missense |
probably benign |
0.11 |
R3115:Sycp2l
|
UTSW |
13 |
41,302,274 (GRCm39) |
missense |
probably benign |
0.41 |
R3977:Sycp2l
|
UTSW |
13 |
41,295,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R3979:Sycp2l
|
UTSW |
13 |
41,295,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R4643:Sycp2l
|
UTSW |
13 |
41,296,941 (GRCm39) |
missense |
probably benign |
0.01 |
R5027:Sycp2l
|
UTSW |
13 |
41,283,247 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5037:Sycp2l
|
UTSW |
13 |
41,283,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5780:Sycp2l
|
UTSW |
13 |
41,282,976 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6216:Sycp2l
|
UTSW |
13 |
41,295,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Sycp2l
|
UTSW |
13 |
41,310,973 (GRCm39) |
missense |
unknown |
|
R7179:Sycp2l
|
UTSW |
13 |
41,283,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7470:Sycp2l
|
UTSW |
13 |
41,316,580 (GRCm39) |
missense |
probably benign |
0.01 |
R7593:Sycp2l
|
UTSW |
13 |
41,326,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Sycp2l
|
UTSW |
13 |
41,326,146 (GRCm39) |
missense |
not run |
|
R8218:Sycp2l
|
UTSW |
13 |
41,271,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:Sycp2l
|
UTSW |
13 |
41,283,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R8503:Sycp2l
|
UTSW |
13 |
41,306,952 (GRCm39) |
missense |
|
|
R8504:Sycp2l
|
UTSW |
13 |
41,291,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Sycp2l
|
UTSW |
13 |
41,277,522 (GRCm39) |
critical splice donor site |
probably null |
|
R9096:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9097:Sycp2l
|
UTSW |
13 |
41,300,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9653:Sycp2l
|
UTSW |
13 |
41,295,381 (GRCm39) |
missense |
probably benign |
0.01 |
R9689:Sycp2l
|
UTSW |
13 |
41,295,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R9713:Sycp2l
|
UTSW |
13 |
41,326,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R9729:Sycp2l
|
UTSW |
13 |
41,326,132 (GRCm39) |
missense |
|
|
R9763:Sycp2l
|
UTSW |
13 |
41,306,232 (GRCm39) |
missense |
|
|
Z1177:Sycp2l
|
UTSW |
13 |
41,300,058 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1177:Sycp2l
|
UTSW |
13 |
41,267,840 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGCTCGCTTGCTCACAAAATC -3'
(R):5'- GGCTTCCTTCAAAAGTTTTACTGGCTC -3'
Sequencing Primer
(F):5'- TGAGGACAACGGGCTCTTTC -3'
(R):5'- AAGTTTTACTGGCTCCCACAGAG -3'
|
Posted On |
2013-08-06 |