Incidental Mutation 'R0024:Sycp2l'
| ID |
15151 |
| 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 |
|
|
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: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
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 |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
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 |
|
|
| Posted On |
2012-12-12 |
Incidental Mutation