Incidental Mutation 'IGL02006:Meioc'
| ID |
183198 |
| 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 # |
IGL02006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102565092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 180
(D180V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
| AlphaFold |
A2AG06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100378
AA Change: D236V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: D236V
| 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 damaging
Transcript: ENSMUST00000156590
AA Change: D180V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: D180V
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,117,582 (GRCm39) |
G182S |
probably damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,392,385 (GRCm39) |
N66I |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,031,893 (GRCm39) |
I42N |
probably damaging |
Het |
| Atp6v0d2 |
G |
T |
4: 19,878,325 (GRCm39) |
A316E |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,094,497 (GRCm39) |
V847A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,713,479 (GRCm39) |
N1173D |
possibly damaging |
Het |
| Crb2 |
A |
C |
2: 37,676,475 (GRCm39) |
D152A |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,641,557 (GRCm39) |
E559G |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 102,071,971 (GRCm39) |
|
probably null |
Het |
| Fndc11 |
C |
A |
2: 180,863,884 (GRCm39) |
R230S |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,911,037 (GRCm39) |
|
probably null |
Het |
| Fyco1 |
G |
A |
9: 123,658,896 (GRCm39) |
Q427* |
probably null |
Het |
| Gm17541 |
A |
G |
12: 4,739,619 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,330 (GRCm39) |
V809M |
probably damaging |
Het |
| Gm7293 |
A |
G |
9: 51,534,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ift52 |
T |
C |
2: 162,865,289 (GRCm39) |
S47P |
probably benign |
Het |
| Iqcf6 |
A |
G |
9: 106,504,510 (GRCm39) |
D58G |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,488 (GRCm39) |
|
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,278,331 (GRCm39) |
I536T |
probably damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,873,323 (GRCm39) |
M3R |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 74,944,322 (GRCm39) |
P976T |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,968,591 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,317 (GRCm39) |
Q3126L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,954 (GRCm39) |
C3066S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,311,418 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
C |
3: 156,721,810 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,557,226 (GRCm39) |
N940K |
probably benign |
Het |
| Nfkbib |
A |
T |
7: 28,465,667 (GRCm39) |
|
probably null |
Het |
| Nol4 |
T |
A |
18: 23,054,975 (GRCm39) |
T152S |
probably damaging |
Het |
| Oas3 |
G |
T |
5: 120,907,300 (GRCm39) |
R446S |
probably benign |
Het |
| Oosp3 |
C |
T |
19: 11,676,784 (GRCm39) |
L48F |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,449,025 (GRCm39) |
V29A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,503,985 (GRCm39) |
L65P |
probably damaging |
Het |
| Pik3ap1 |
C |
A |
19: 41,291,032 (GRCm39) |
W500L |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,168,779 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
G |
T |
1: 143,636,084 (GRCm39) |
|
probably benign |
Het |
| Slc7a15 |
T |
C |
12: 8,585,508 (GRCm39) |
|
probably null |
Het |
| Srl |
T |
C |
16: 4,315,150 (GRCm39) |
E164G |
probably benign |
Het |
| Tbx10 |
C |
A |
19: 4,048,186 (GRCm39) |
T237K |
probably damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,415,843 (GRCm39) |
V392A |
probably damaging |
Het |
| Wfdc5 |
A |
T |
2: 164,024,483 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,306 (GRCm39) |
F1516L |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,683 (GRCm39) |
C414R |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation