Incidental Mutation 'IGL01391:Meioc'
| ID |
79228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meioc
|
| Ensembl Gene |
ENSMUSG00000051455 |
| Gene Name |
meiosis specific with coiled-coil domain |
| Synonyms |
Gm1564, LOC380729, LOC268491 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102663716-102682237 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102674287 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
| AlphaFold |
A2AG06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100378
AA Change: Y243C
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: Y243C
| 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
AA Change: Y187C
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: Y187C
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
T |
A |
8: 22,799,647 (GRCm38) |
I147F |
probably benign |
Het |
| Areg |
T |
A |
5: 91,141,095 (GRCm38) |
S87T |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,318,858 (GRCm38) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,192,144 (GRCm38) |
R8G |
probably benign |
Het |
| Brms1 |
A |
G |
19: 5,046,695 (GRCm38) |
E135G |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,638,521 (GRCm38) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,907,234 (GRCm38) |
M258K |
possibly damaging |
Het |
| Epb41l4a |
T |
G |
18: 33,801,625 (GRCm38) |
D562A |
possibly damaging |
Het |
| Etaa1 |
G |
A |
11: 17,946,005 (GRCm38) |
T704I |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 156,036,456 (GRCm38) |
H972L |
probably damaging |
Het |
| Foxn1 |
A |
G |
11: 78,361,494 (GRCm38) |
M356T |
probably damaging |
Het |
| Gfral |
C |
A |
9: 76,164,825 (GRCm38) |
G388* |
probably null |
Het |
| Gm10436 |
C |
T |
12: 88,178,455 (GRCm38) |
V34I |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,848,694 (GRCm38) |
T3A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,204,331 (GRCm38) |
N7S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,990,920 (GRCm38) |
L765P |
probably damaging |
Het |
| Jchain |
C |
T |
5: 88,521,524 (GRCm38) |
C90Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,778,917 (GRCm38) |
Y381C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 36,103,465 (GRCm38) |
C74S |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,380,884 (GRCm38) |
S1179G |
unknown |
Het |
| Mapre3 |
T |
C |
5: 30,864,897 (GRCm38) |
I236T |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,014,010 (GRCm38) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,328,497 (GRCm38) |
H374Q |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,217,863 (GRCm38) |
M1368I |
probably benign |
Het |
| Olfr304 |
A |
T |
7: 86,386,000 (GRCm38) |
I220N |
possibly damaging |
Het |
| Olfr921 |
A |
G |
9: 38,775,530 (GRCm38) |
I92V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 141,262,481 (GRCm38) |
Y1501H |
probably damaging |
Het |
| Pigb |
T |
C |
9: 73,022,291 (GRCm38) |
T337A |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,773,698 (GRCm38) |
K334E |
probably benign |
Het |
| Rab3b |
T |
C |
4: 108,940,802 (GRCm38) |
C226R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,556,685 (GRCm38) |
I4889N |
possibly damaging |
Het |
| Serpinb1a |
G |
A |
13: 32,845,415 (GRCm38) |
S210L |
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 152,007,602 (GRCm38) |
I390V |
probably benign |
Het |
| Slc6a7 |
C |
A |
18: 61,003,310 (GRCm38) |
A340S |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,593,681 (GRCm38) |
Y379C |
probably damaging |
Het |
| Tex261 |
A |
G |
6: 83,771,240 (GRCm38) |
V180A |
probably benign |
Het |
| Tnnt1 |
C |
T |
7: 4,514,212 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,968,503 (GRCm38) |
T476A |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,704,169 (GRCm38) |
S891P |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,363,761 (GRCm38) |
D611E |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 85,237,611 (GRCm38) |
T32A |
probably benign |
Het |
| Vwde |
T |
G |
6: 13,190,527 (GRCm38) |
S522R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,146,789 (GRCm38) |
|
probably benign |
Het |
| Wfs1 |
G |
T |
5: 36,971,563 (GRCm38) |
Q288K |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,579,540 (GRCm38) |
V120A |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,317,366 (GRCm38) |
F43S |
probably damaging |
Het |
| Znhit3 |
A |
T |
11: 84,911,457 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Meioc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Meioc
|
APN |
11 |
102,672,185 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02006:Meioc
|
APN |
11 |
102,674,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02195:Meioc
|
APN |
11 |
102,674,857 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02339:Meioc
|
APN |
11 |
102,668,448 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02935:Meioc
|
APN |
11 |
102,672,191 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03294:Meioc
|
APN |
11 |
102,680,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Meioc
|
UTSW |
11 |
102,679,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0285:Meioc
|
UTSW |
11 |
102,672,191 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0964:Meioc
|
UTSW |
11 |
102,680,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1074:Meioc
|
UTSW |
11 |
102,675,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2024:Meioc
|
UTSW |
11 |
102,675,358 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4012:Meioc
|
UTSW |
11 |
102,675,828 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4429:Meioc
|
UTSW |
11 |
102,675,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4491:Meioc
|
UTSW |
11 |
102,674,920 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4594:Meioc
|
UTSW |
11 |
102,674,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4752:Meioc
|
UTSW |
11 |
102,674,433 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5301:Meioc
|
UTSW |
11 |
102,680,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5352:Meioc
|
UTSW |
11 |
102,675,313 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5646:Meioc
|
UTSW |
11 |
102,675,257 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5958:Meioc
|
UTSW |
11 |
102,675,153 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5968:Meioc
|
UTSW |
11 |
102,675,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6157:Meioc
|
UTSW |
11 |
102,668,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6410:Meioc
|
UTSW |
11 |
102,675,034 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6644:Meioc
|
UTSW |
11 |
102,668,460 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7285:Meioc
|
UTSW |
11 |
102,666,342 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7440:Meioc
|
UTSW |
11 |
102,674,237 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7815:Meioc
|
UTSW |
11 |
102,675,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7984:Meioc
|
UTSW |
11 |
102,674,606 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8009:Meioc
|
UTSW |
11 |
102,676,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8078:Meioc
|
UTSW |
11 |
102,668,400 (GRCm38) |
nonsense |
probably null |
|
|
R8195:Meioc
|
UTSW |
11 |
102,675,067 (GRCm38) |
nonsense |
probably null |
|
|
R8429:Meioc
|
UTSW |
11 |
102,674,206 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8797:Meioc
|
UTSW |
11 |
102,676,860 (GRCm38) |
nonsense |
probably null |
|
|
R8854:Meioc
|
UTSW |
11 |
102,675,763 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8891:Meioc
|
UTSW |
11 |
102,668,420 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9081:Meioc
|
UTSW |
11 |
102,674,175 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9360:Meioc
|
UTSW |
11 |
102,674,953 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9539:Meioc
|
UTSW |
11 |
102,674,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9549:Meioc
|
UTSW |
11 |
102,665,724 (GRCm38) |
intron |
probably benign |
|
|
R9751:Meioc
|
UTSW |
11 |
102,675,593 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Meioc
|
UTSW |
11 |
102,666,364 (GRCm38) |
frame shift |
probably null |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation