Incidental Mutation 'R3111:Syce1l'
ID |
263773 |
Institutional Source |
Beutler Lab
|
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 # |
R3111 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
114369845-114382165 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114381579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 164
(Q164R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034219]
[ENSMUST00000095173]
[ENSMUST00000212269]
|
AlphaFold |
Q5D525 |
Predicted Effect |
silent
Transcript: ENSMUST00000034219
|
SMART Domains |
Protein: ENSMUSP00000034219 Gene: ENSMUSG00000033409
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: Q185R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092796 Gene: ENSMUSG00000033409 AA Change: Q185R
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: Q164R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCATCCTGACAGGTCCTGC -3'
(R):5'- ATTCTGAGCTTCTGGGCTGC -3'
Sequencing Primer
(F):5'- TGACAGGTCCTGCAGCAG -3'
(R):5'- GGACTGCCCCTCCAATTC -3'
|
Posted On |
2015-02-05 |