Incidental Mutation 'R5301:Meioc'
ID |
404260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meioc
|
Ensembl Gene |
ENSMUSG00000051455 |
Gene Name |
meiosis specific with coiled-coil domain |
Synonyms |
LOC380729, LOC268491, Gm1564 |
MMRRC Submission |
042884-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R5301 (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 102570871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 867
(R867S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092569]
[ENSMUST00000100378]
[ENSMUST00000156590]
[ENSMUST00000164506]
|
AlphaFold |
A2AG06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092569
|
SMART Domains |
Protein: ENSMUSP00000090230 Gene: ENSMUSG00000020925
Domain | Start | End | E-Value | Type |
low complexity region
|
138 |
149 |
N/A |
INTRINSIC |
coiled coil region
|
172 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100378
AA Change: R867S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097947 Gene: ENSMUSG00000051455 AA Change: R867S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164506
|
SMART Domains |
Protein: ENSMUSP00000127494 Gene: ENSMUSG00000020925
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
149 |
N/A |
INTRINSIC |
coiled coil region
|
172 |
217 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1629 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
93% (52/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCACTACCATAGTCTTAGGACATAG -3'
(R):5'- TGCTGTTGCTACCAAATGATCAAAC -3'
Sequencing Primer
(F):5'- GGGCAAAATGGAACGTCT -3'
(R):5'- TGGTGATAGCTAAGATAATGAA -3'
|
Posted On |
2016-07-22 |