Incidental Mutation 'R0016:Sycp2l'
ID |
8267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sycp2l
|
Ensembl Gene |
ENSMUSG00000038651 |
Gene Name |
synaptonemal complex protein 2-like |
Synonyms |
Gm40956, LOC218175, EG621792 |
MMRRC Submission |
038311-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R0016 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
41267895-41327827 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 41310976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124093]
|
AlphaFold |
A0A0M3U1B0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000124093
AA Change: D646G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141292
|
SMART Domains |
Protein: ENSMUSP00000121296 Gene: ENSMUSG00000038651
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
low complexity region
|
171 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145810
|
SMART Domains |
Protein: ENSMUSP00000114266 Gene: ENSMUSG00000038651
Domain | Start | End | E-Value | Type |
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 81.7%
- 3x: 74.6%
- 10x: 53.6%
- 20x: 32.4%
|
Validation Efficiency |
93% (85/91) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
Trgv5 |
G |
A |
13: 19,376,889 (GRCm39) |
W112* |
probably null |
Het |
Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
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 |
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 |
|
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 |
2012-11-21 |