Incidental Mutation 'R9539:Meioc'
| ID |
719818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meioc
|
| Ensembl Gene |
ENSMUSG00000051455 |
| Gene Name |
meiosis specific with coiled-coil domain |
| Synonyms |
LOC380729, LOC268491, Gm1564 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102556177-102573066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102565506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 318
(T318M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100378]
[ENSMUST00000156590]
|
| AlphaFold |
A2AG06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100378
AA Change: T374M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: T374M
| 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 damaging
Transcript: ENSMUST00000156590
AA Change: T318M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: T318M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,273,914 (GRCm39) |
T160A |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,134,298 (GRCm39) |
I73F |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,683 (GRCm39) |
N431S |
probably benign |
Het |
| Tgfbr3l |
G |
A |
8: 4,299,679 (GRCm39) |
R154H |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Traf7 |
C |
T |
17: 24,729,333 (GRCm39) |
V465M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
probably damaging |
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 |
|
|
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 |
|
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'- AAGGGCAGAGATATTTCTTTCCC -3'
(R):5'- GTCAGGCTTAGCAAACTGTTG -3'
Sequencing Primer
(F):5'- GCTCATCCTAATAAGGCAA -3'
(R):5'- CTGTTGCTTTTCAGAGACATTAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation