Incidental Mutation 'R0918:Syce1'
| ID |
81541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syce1
|
| Ensembl Gene |
ENSMUSG00000025480 |
| Gene Name |
synaptonemal complex central element protein 1 |
| Synonyms |
4933406J07Rik |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140357142-140367765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140360436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 50
(K50E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026553]
[ENSMUST00000211616]
|
| AlphaFold |
Q9D495 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026553
AA Change: K71E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480
AA Change: K71E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYCE1
|
49 |
200 |
5.5e-66 |
PFAM |
|
coiled coil region
|
237 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204061
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211616
AA Change: K50E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit small ovaries and small testes, severe defects in gametogenesis, and infertility in both sexes. Meiosis is arrested, homologous chromosomes fail to synapse, and meiotic double-strand breaks are formed but are notefficiently repaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
G |
3: 59,946,953 (GRCm39) |
I217R |
probably damaging |
Het |
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cerkl |
A |
G |
2: 79,163,973 (GRCm39) |
I449T |
probably benign |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,391,559 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Snx11 |
G |
A |
11: 96,660,104 (GRCm39) |
P195L |
possibly damaging |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,835,477 (GRCm39) |
S1018P |
probably damaging |
Het |
|
| Other mutations in Syce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02112:Syce1
|
APN |
7 |
140,359,545 (GRCm39) |
missense |
probably benign |
|
|
IGL03304:Syce1
|
APN |
7 |
140,357,623 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1106:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Syce1
|
UTSW |
7 |
140,358,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1430:Syce1
|
UTSW |
7 |
140,359,351 (GRCm39) |
unclassified |
probably benign |
|
|
R1436:Syce1
|
UTSW |
7 |
140,357,593 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1650:Syce1
|
UTSW |
7 |
140,358,300 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2081:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Syce1
|
UTSW |
7 |
140,358,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4824:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Syce1
|
UTSW |
7 |
140,358,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Syce1
|
UTSW |
7 |
140,357,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Syce1
|
UTSW |
7 |
140,358,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Syce1
|
UTSW |
7 |
140,359,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8681:Syce1
|
UTSW |
7 |
140,361,987 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Y4338:Syce1
|
UTSW |
7 |
140,359,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGCCCTCCTGTTAGAAGATG -3'
(R):5'- TCCCCACAATCCTAGATTGAGACCG -3'
Sequencing Primer
(F):5'- CCTCCTGTTAGAAGATGGGACTG -3'
(R):5'- gcccttctgcctgtaacc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation