Incidental Mutation 'IGL00783:Syce1l'
ID |
277944 |
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 # |
IGL00783
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
114369845-114382165 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114379494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 120
(D120G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034219]
[ENSMUST00000095173]
[ENSMUST00000212269]
|
AlphaFold |
Q5D525 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034219
AA Change: D120G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034219 Gene: ENSMUSG00000033409 AA Change: D120G
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: ENSMUST00000095173
AA Change: D120G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000092796 Gene: ENSMUSG00000033409 AA Change: D120G
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
AA Change: D99G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213038
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
Arhgef33 |
A |
T |
17: 80,675,659 (GRCm39) |
I403L |
probably benign |
Het |
Cd4 |
A |
G |
6: 124,849,952 (GRCm39) |
V121A |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,550,166 (GRCm39) |
|
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,239,336 (GRCm39) |
Y776N |
probably damaging |
Het |
Hnrnpl |
T |
C |
7: 28,520,067 (GRCm39) |
F482L |
probably benign |
Het |
Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,338,555 (GRCm39) |
R290G |
probably damaging |
Het |
Jhy |
T |
C |
9: 40,834,048 (GRCm39) |
T291A |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,697,356 (GRCm39) |
I605V |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,315,846 (GRCm39) |
F279I |
probably damaging |
Het |
Nup93 |
G |
A |
8: 95,035,651 (GRCm39) |
|
probably null |
Het |
Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
Pecam1 |
T |
C |
11: 106,590,624 (GRCm39) |
D22G |
probably damaging |
Het |
Pold2 |
T |
C |
11: 5,822,412 (GRCm39) |
E419G |
probably benign |
Het |
Rassf3 |
T |
C |
10: 121,251,985 (GRCm39) |
H142R |
probably benign |
Het |
Rp2 |
T |
A |
X: 20,243,408 (GRCm39) |
C128S |
probably damaging |
Het |
Scn7a |
T |
G |
2: 66,522,908 (GRCm39) |
E932A |
probably damaging |
Het |
Sis |
T |
C |
3: 72,853,965 (GRCm39) |
H504R |
probably benign |
Het |
Tns4 |
A |
G |
11: 98,961,221 (GRCm39) |
|
probably benign |
Het |
Unc80 |
G |
A |
1: 66,647,596 (GRCm39) |
G1512E |
probably benign |
Het |
|
Other mutations in Syce1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Syce1l
|
APN |
8 |
114,376,134 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |