Incidental Mutation 'R5968:Meioc'
| ID |
470705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meioc
|
| Ensembl Gene |
ENSMUSG00000051455 |
| Gene Name |
meiosis specific with coiled-coil domain |
| Synonyms |
LOC380729, LOC268491, Gm1564 |
| MMRRC Submission |
043249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102566657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 758
(S758G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
| AlphaFold |
A2AG06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100378
AA Change: S758G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: S758G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
728 |
N/A |
INTRINSIC |
|
Pfam:DUF4582
|
757 |
922 |
5.1e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156590
|
| SMART Domains |
Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility with small gonads, absent germ cells and arrested meiosis. [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 |
|---|
| Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
| Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
| Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
| Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
| Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
| Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
| Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
| Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
| Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
| Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
| Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
probably damaging |
Het |
|
| Other mutations in Meioc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Meioc
|
APN |
11 |
102,565,113 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01952:Meioc
|
APN |
11 |
102,563,011 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02006:Meioc
|
APN |
11 |
102,565,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02195:Meioc
|
APN |
11 |
102,565,683 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02339:Meioc
|
APN |
11 |
102,559,274 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02935:Meioc
|
APN |
11 |
102,563,017 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03294:Meioc
|
APN |
11 |
102,571,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Meioc
|
UTSW |
11 |
102,570,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Meioc
|
UTSW |
11 |
102,563,017 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0964:Meioc
|
UTSW |
11 |
102,570,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Meioc
|
UTSW |
11 |
102,566,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Meioc
|
UTSW |
11 |
102,566,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4012:Meioc
|
UTSW |
11 |
102,566,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4429:Meioc
|
UTSW |
11 |
102,566,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Meioc
|
UTSW |
11 |
102,565,746 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4594:Meioc
|
UTSW |
11 |
102,564,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Meioc
|
UTSW |
11 |
102,565,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5301:Meioc
|
UTSW |
11 |
102,570,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5352:Meioc
|
UTSW |
11 |
102,566,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5646:Meioc
|
UTSW |
11 |
102,566,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5958:Meioc
|
UTSW |
11 |
102,565,979 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6157:Meioc
|
UTSW |
11 |
102,559,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6410:Meioc
|
UTSW |
11 |
102,565,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6644:Meioc
|
UTSW |
11 |
102,559,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7285:Meioc
|
UTSW |
11 |
102,557,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7440:Meioc
|
UTSW |
11 |
102,565,063 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7815:Meioc
|
UTSW |
11 |
102,566,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Meioc
|
UTSW |
11 |
102,565,432 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8009:Meioc
|
UTSW |
11 |
102,567,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Meioc
|
UTSW |
11 |
102,559,226 (GRCm39) |
nonsense |
probably null |
|
|
R8195:Meioc
|
UTSW |
11 |
102,565,893 (GRCm39) |
nonsense |
probably null |
|
|
R8429:Meioc
|
UTSW |
11 |
102,565,032 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8797:Meioc
|
UTSW |
11 |
102,567,686 (GRCm39) |
nonsense |
probably null |
|
|
R8854:Meioc
|
UTSW |
11 |
102,566,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8891:Meioc
|
UTSW |
11 |
102,559,246 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9081:Meioc
|
UTSW |
11 |
102,565,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Meioc
|
UTSW |
11 |
102,565,779 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9539:Meioc
|
UTSW |
11 |
102,565,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9549:Meioc
|
UTSW |
11 |
102,556,550 (GRCm39) |
intron |
probably benign |
|
|
R9751:Meioc
|
UTSW |
11 |
102,566,419 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Meioc
|
UTSW |
11 |
102,557,190 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATCTACCCACCCATTTGG -3'
(R):5'- CCTACTTAAGTCCTTTATAGCATTGAA -3'
Sequencing Primer
(F):5'- GGCCATTCAGTTGTTCCACTG -3'
(R):5'- CAGAGCTATTCAGAGAAGTCCTGTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation