Incidental Mutation 'R4491:Meioc'
ID |
330745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meioc
|
Ensembl Gene |
ENSMUSG00000051455 |
Gene Name |
meiosis specific with coiled-coil domain |
Synonyms |
Gm1564, LOC380729, LOC268491 |
MMRRC Submission |
041747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R4491 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102663716-102682237 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102674920 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 398
(D398G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
AlphaFold |
A2AG06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100378
AA Change: D454G
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097947 Gene: ENSMUSG00000051455 AA Change: D454G
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: D398G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116246 Gene: ENSMUSG00000051455 AA Change: D398G
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0841  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 63,898,469 (GRCm38) |
P183T |
probably damaging |
Het |
6430573F11Rik |
G |
A |
8: 36,505,606 (GRCm38) |
C70Y |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,990,233 (GRCm38) |
R682* |
probably null |
Het |
Bzw1 |
T |
A |
1: 58,404,259 (GRCm38) |
L410Q |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,113,040 (GRCm38) |
I48F |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 141,274,057 (GRCm38) |
N173D |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,429,171 (GRCm38) |
M480T |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,940,012 (GRCm38) |
A367T |
unknown |
Het |
Colca2 |
A |
G |
9: 51,270,655 (GRCm38) |
F206L |
probably benign |
Het |
Cpsf1 |
A |
C |
15: 76,597,722 (GRCm38) |
Y1064D |
possibly damaging |
Het |
Defb6 |
A |
T |
8: 19,228,074 (GRCm38) |
H54L |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,140,379 (GRCm38) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,734,603 (GRCm38) |
L827S |
possibly damaging |
Het |
Dsc3 |
T |
C |
18: 20,001,865 (GRCm38) |
T21A |
probably benign |
Het |
Epb41l1 |
G |
T |
2: 156,522,168 (GRCm38) |
D866Y |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,360,666 (GRCm38) |
M860V |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,173,409 (GRCm38) |
L380P |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,989,299 (GRCm38) |
I680V |
possibly damaging |
Het |
Fnbp4 |
T |
C |
2: 90,752,968 (GRCm38) |
|
probably null |
Het |
Focad |
G |
A |
4: 88,359,905 (GRCm38) |
|
probably null |
Het |
Gm14180 |
T |
A |
11: 99,730,313 (GRCm38) |
|
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,840,415 (GRCm38) |
T5A |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,912,480 (GRCm38) |
F2L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,364,081 (GRCm38) |
T19A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
Klb |
A |
G |
5: 65,375,794 (GRCm38) |
N482S |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,721,700 (GRCm38) |
L310R |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,249,203 (GRCm38) |
H115R |
possibly damaging |
Het |
Olfr1130 |
G |
A |
2: 87,607,392 (GRCm38) |
M1I |
probably null |
Het |
Olfr1353 |
T |
C |
10: 78,970,317 (GRCm38) |
S223P |
probably damaging |
Het |
Olfr683 |
A |
T |
7: 105,143,776 (GRCm38) |
C172* |
probably null |
Het |
Pds5a |
T |
C |
5: 65,635,437 (GRCm38) |
T718A |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,637 (GRCm38) |
D1016N |
possibly damaging |
Het |
Pla2g2c |
T |
C |
4: 138,734,408 (GRCm38) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,740,739 (GRCm38) |
I404V |
probably damaging |
Het |
Ppp2r5c |
A |
T |
12: 110,580,522 (GRCm38) |
D522V |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,162,263 (GRCm38) |
S851R |
probably benign |
Het |
Rapgef1 |
C |
T |
2: 29,719,656 (GRCm38) |
P702S |
possibly damaging |
Het |
Rasal3 |
T |
A |
17: 32,391,385 (GRCm38) |
D976V |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,734,503 (GRCm38) |
L587R |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,396,511 (GRCm38) |
R384* |
probably null |
Het |
Sema6a |
G |
A |
18: 47,306,457 (GRCm38) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,374,985 (GRCm38) |
T608K |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,590,228 (GRCm38) |
R35H |
probably benign |
Het |
Taf1 |
G |
T |
X: 101,543,059 (GRCm38) |
M313I |
possibly damaging |
Het |
Taf15 |
A |
T |
11: 83,484,694 (GRCm38) |
T31S |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,512,012 (GRCm38) |
V74A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,454,865 (GRCm38) |
V489A |
probably damaging |
Het |
Tmem30a |
T |
C |
9: 79,777,285 (GRCm38) |
H95R |
probably damaging |
Het |
Vmn1r75 |
C |
A |
7: 11,880,982 (GRCm38) |
Q214K |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,910,193 (GRCm38) |
T1049M |
probably benign |
Het |
Wdr78 |
T |
C |
4: 103,066,399 (GRCm38) |
E411G |
probably benign |
Het |
Zfp37 |
T |
C |
4: 62,192,128 (GRCm38) |
Q274R |
probably benign |
Het |
Zfp648 |
T |
G |
1: 154,205,127 (GRCm38) |
L344R |
probably damaging |
Het |
|
Other mutations in Meioc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01391:Meioc
|
APN |
11 |
102,674,287 (GRCm38) |
missense |
probably benign |
0.33 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAAGCAGATGCCTATACG -3'
(R):5'- CCTTTTGAAGCTGCACTTAAATGAC -3'
Sequencing Primer
(F):5'- GACCAGCAGAATTTTGCATTTCC -3'
(R):5'- TGAAGCTGCACTTAAATGACTATTC -3'
|
Posted On |
2015-07-21 |