Incidental Mutation 'R0582:Sycp2l'
| ID |
56482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sycp2l
|
| Ensembl Gene |
ENSMUSG00000038651 |
| Gene Name |
synaptonemal complex protein 2-like |
| Synonyms |
Gm40956, LOC218175, EG621792 |
| MMRRC Submission |
038772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0582 (G1)
|
| Quality Score |
169 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41267895-41327827 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 41291431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124093]
|
| AlphaFold |
A0A0M3U1B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124093
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
| Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
| Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
| Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
| Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
| Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
| Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
| Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
| Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
| Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
probably damaging |
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 |
|
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 |
|
|
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'- ACAGAGCAGTGGAGCCTTGTGAAC -3'
(R):5'- TATGAGGGGACTCCAACTCAGCAG -3'
Sequencing Primer
(F):5'- TCGGCAGTTCCTCAATTTCC -3'
(R):5'- ACCAATTAACCACTTGGCCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation