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 |
Incidental Mutation