Incidental Mutation 'R5352:Meioc'
| ID |
423854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meioc
|
| Ensembl Gene |
ENSMUSG00000051455 |
| Gene Name |
meiosis specific with coiled-coil domain |
| Synonyms |
LOC380729, LOC268491, Gm1564 |
| MMRRC Submission |
042931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102566139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 585
(E585V)
|
| 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: E585V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: E585V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| A630010A05Rik |
T |
G |
16: 14,436,565 (GRCm39) |
L206* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,642,776 (GRCm39) |
Y3218C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,621,560 (GRCm39) |
T41M |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 52,842,880 (GRCm39) |
E76V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 127,292,640 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
C |
13: 91,031,875 (GRCm39) |
L269R |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,613,420 (GRCm39) |
S363P |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,069,667 (GRCm39) |
N204S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,863,555 (GRCm39) |
W672C |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,462,247 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,443,710 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,938,743 (GRCm39) |
T1325I |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,790,479 (GRCm39) |
T976P |
unknown |
Het |
| Corin |
C |
T |
5: 72,462,376 (GRCm39) |
S811N |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,183,322 (GRCm39) |
V27A |
possibly damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,821 (GRCm39) |
H152L |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,449,317 (GRCm39) |
S1405G |
possibly damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,905 (GRCm39) |
N154S |
possibly damaging |
Het |
| Gm12183 |
T |
C |
11: 48,642,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gm27047 |
G |
A |
6: 130,607,982 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
G |
7: 87,724,058 (GRCm39) |
I783V |
probably damaging |
Het |
| Hk1 |
A |
T |
10: 62,140,549 (GRCm39) |
S113T |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,057,918 (GRCm39) |
N260K |
probably benign |
Het |
| Iws1 |
A |
T |
18: 32,216,457 (GRCm39) |
K399M |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,654 (GRCm39) |
I68T |
probably damaging |
Het |
| Man2a1 |
T |
C |
17: 65,038,241 (GRCm39) |
I75T |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,192,294 (GRCm39) |
I824L |
possibly damaging |
Het |
| Mrgpre |
A |
C |
7: 143,334,831 (GRCm39) |
F224C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,418,295 (GRCm39) |
F3747Y |
possibly damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,229 (GRCm39) |
R66H |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,052,598 (GRCm39) |
V839A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,046,298 (GRCm39) |
V545E |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,929,674 (GRCm39) |
T310A |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,658,175 (GRCm39) |
N516S |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,100,455 (GRCm39) |
D241G |
probably benign |
Het |
| Ppp1r36 |
T |
C |
12: 76,474,857 (GRCm39) |
V85A |
probably damaging |
Het |
| Rasa3 |
A |
C |
8: 13,681,778 (GRCm39) |
L57R |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,321 (GRCm39) |
S1264G |
probably benign |
Het |
| Rprd1b |
A |
G |
2: 157,900,656 (GRCm39) |
E247G |
probably damaging |
Het |
| Sag |
G |
T |
1: 87,740,715 (GRCm39) |
V46L |
probably benign |
Het |
| Sat2 |
A |
T |
11: 69,513,141 (GRCm39) |
I17F |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,734,093 (GRCm39) |
Y199N |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,330,997 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
T |
C |
13: 92,900,098 (GRCm39) |
D466G |
probably damaging |
Het |
| Tmem208 |
A |
G |
8: 106,055,063 (GRCm39) |
D91G |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
| Tor3a |
T |
G |
1: 156,501,763 (GRCm39) |
E38A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,210,810 (GRCm39) |
D147E |
possibly damaging |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,129 (GRCm39) |
A232E |
probably benign |
Het |
| Vmn1r89 |
T |
G |
7: 12,953,284 (GRCm39) |
F7V |
probably benign |
Het |
| Zfp160 |
A |
G |
17: 21,247,114 (GRCm39) |
T555A |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,462 (GRCm39) |
T129K |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,733,938 (GRCm39) |
F106I |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCAGCTTCAAAAGGTTCTAAC -3'
(R):5'- GACCCTGTGACTCTAACAGATCTTG -3'
Sequencing Primer
(F):5'- AACCACTCTTCAGATTTTCCCCAAC -3'
(R):5'- CTGTGACTCTAACAGATCTTGATATG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation