Incidental Mutation 'IGL00339:Syce1l'
| ID |
4960 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syce1l
|
| Ensembl Gene |
ENSMUSG00000033409 |
| Gene Name |
synaptonemal complex central element protein 1 like |
| Synonyms |
4930481F22Rik, mmrp2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
114369845-114382165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114376134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 28
(L28R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034219]
[ENSMUST00000035777]
[ENSMUST00000095173]
[ENSMUST00000212269]
|
| AlphaFold |
Q5D525 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034219
AA Change: L28R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409
AA Change: L28R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYCE1
|
45 |
135 |
4.4e-39 |
PFAM |
|
low complexity region
|
139 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035777
|
| SMART Domains |
Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mon1
|
105 |
533 |
5.5e-172 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095173
AA Change: L28R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409
AA Change: L28R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYCE1
|
45 |
172 |
8.3e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213038
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Syce1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Syce1l
|
APN |
8 |
114,379,494 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL00784:Syce1l
|
APN |
8 |
114,379,494 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02748:Syce1l
|
APN |
8 |
114,382,097 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03003:Syce1l
|
APN |
8 |
114,380,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0101:Syce1l
|
UTSW |
8 |
114,382,061 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0486:Syce1l
|
UTSW |
8 |
114,381,395 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0492:Syce1l
|
UTSW |
8 |
114,380,700 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1709:Syce1l
|
UTSW |
8 |
114,380,662 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1783:Syce1l
|
UTSW |
8 |
114,381,466 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2307:Syce1l
|
UTSW |
8 |
114,369,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3110:Syce1l
|
UTSW |
8 |
114,381,579 (GRCm39) |
missense |
probably benign |
|
|
R3111:Syce1l
|
UTSW |
8 |
114,381,579 (GRCm39) |
missense |
probably benign |
|
|
R3112:Syce1l
|
UTSW |
8 |
114,381,579 (GRCm39) |
missense |
probably benign |
|
|
R3790:Syce1l
|
UTSW |
8 |
114,369,897 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5112:Syce1l
|
UTSW |
8 |
114,378,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5398:Syce1l
|
UTSW |
8 |
114,379,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6373:Syce1l
|
UTSW |
8 |
114,376,143 (GRCm39) |
missense |
probably benign |
|
|
R7407:Syce1l
|
UTSW |
8 |
114,381,770 (GRCm39) |
nonsense |
probably null |
|
|
R8296:Syce1l
|
UTSW |
8 |
114,380,721 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9262:Syce1l
|
UTSW |
8 |
114,380,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9475:Syce1l
|
UTSW |
8 |
114,381,735 (GRCm39) |
missense |
probably benign |
|
|
R9600:Syce1l
|
UTSW |
8 |
114,381,750 (GRCm39) |
missense |
unknown |
|
|
Z1176:Syce1l
|
UTSW |
8 |
114,382,049 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2012-04-20 |
Incidental Mutation