Incidental Mutation 'IGL02195:Meioc'
ID |
284020 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Meioc
|
Ensembl Gene |
ENSMUSG00000051455 |
Gene Name |
meiosis specific with coiled-coil domain |
Synonyms |
LOC380729, LOC268491, Gm1564 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL02195
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 102565683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 433
(T433K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
AlphaFold |
A2AG06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100378
AA Change: T433K
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097947 Gene: ENSMUSG00000051455 AA Change: T433K
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 |
possibly damaging
Transcript: ENSMUST00000156590
AA Change: T377K
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116246 Gene: ENSMUSG00000051455 AA Change: T377K
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 |
Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
Car11 |
G |
T |
7: 45,350,716 (GRCm39) |
V71L |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,140,219 (GRCm39) |
C560S |
probably damaging |
Het |
Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
Manea |
A |
C |
4: 26,340,628 (GRCm39) |
Y111* |
probably null |
Het |
Map2k1 |
A |
G |
9: 64,101,090 (GRCm39) |
I196T |
probably benign |
Het |
Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
Trim72 |
A |
T |
7: 127,607,136 (GRCm39) |
M222L |
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 |
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 |
R5968:Meioc
|
UTSW |
11 |
102,566,657 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Posted On |
2015-04-16 |