Incidental Mutation 'R7285:Meioc'
ID |
565950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meioc
|
Ensembl Gene |
ENSMUSG00000051455 |
Gene Name |
meiosis specific with coiled-coil domain |
Synonyms |
LOC380729, LOC268491, Gm1564 |
MMRRC Submission |
045393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7285 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102557168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 25
(V25M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
AlphaFold |
A2AG06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100378
AA Change: V25M
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000097947 Gene: ENSMUSG00000051455 AA Change: V25M
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,543,519 (GRCm39) |
I437V |
probably benign |
Het |
Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
Eme2 |
A |
T |
17: 25,113,543 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
Inpp5e |
G |
A |
2: 26,287,870 (GRCm39) |
A642V |
probably benign |
Het |
Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,572,754 (GRCm39) |
K503R |
possibly damaging |
Het |
Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,310,610 (GRCm39) |
S175P |
possibly damaging |
Het |
Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
probably benign |
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 |
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 |
|
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'- TCTTCTTTAAGGAGGCCCGG -3'
(R):5'- GGACGAGCAAAGTCTTGAATTTG -3'
Sequencing Primer
(F):5'- TCAGCCAGTCGCAATGG -3'
(R):5'- GTTAATGGACCTGAGACTTGTAGC -3'
|
Posted On |
2019-06-26 |