Incidental Mutation 'IGL03224:Meikin'
| ID |
413726 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meikin
|
| Ensembl Gene |
ENSMUSG00000020332 |
| Gene Name |
meiotic kinetochore factor |
| Synonyms |
4930404A10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL03224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
54261478-54317616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54289286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 220
(M220V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094193]
|
| AlphaFold |
Q5F2C3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094193
AA Change: M220V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: M220V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144172
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with defects in sister kinetochore pairing in meiosis I. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
| Capn10 |
T |
G |
1: 92,867,046 (GRCm39) |
V92G |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,126,048 (GRCm39) |
S72G |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
| Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
| Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
| Ints6l |
A |
G |
X: 55,543,287 (GRCm39) |
T525A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
| Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
| Rasgef1a |
A |
G |
6: 118,066,767 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
| Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
| Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Meikin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Meikin
|
APN |
11 |
54,289,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02893:Meikin
|
APN |
11 |
54,308,584 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0153:Meikin
|
UTSW |
11 |
54,300,468 (GRCm39) |
splice site |
probably benign |
|
|
R0634:Meikin
|
UTSW |
11 |
54,281,309 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1374:Meikin
|
UTSW |
11 |
54,289,270 (GRCm39) |
splice site |
probably benign |
|
|
R1457:Meikin
|
UTSW |
11 |
54,261,767 (GRCm39) |
nonsense |
probably null |
|
|
R1659:Meikin
|
UTSW |
11 |
54,281,392 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Meikin
|
UTSW |
11 |
54,308,613 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2869:Meikin
|
UTSW |
11 |
54,264,333 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2869:Meikin
|
UTSW |
11 |
54,264,333 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3801:Meikin
|
UTSW |
11 |
54,290,697 (GRCm39) |
splice site |
probably null |
|
|
R4384:Meikin
|
UTSW |
11 |
54,308,613 (GRCm39) |
nonsense |
probably null |
|
|
R6343:Meikin
|
UTSW |
11 |
54,261,592 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6523:Meikin
|
UTSW |
11 |
54,289,327 (GRCm39) |
nonsense |
probably null |
|
|
R6878:Meikin
|
UTSW |
11 |
54,302,712 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7214:Meikin
|
UTSW |
11 |
54,302,738 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7969:Meikin
|
UTSW |
11 |
54,300,536 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8462:Meikin
|
UTSW |
11 |
54,290,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8680:Meikin
|
UTSW |
11 |
54,317,477 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9136:Meikin
|
UTSW |
11 |
54,285,464 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9169:Meikin
|
UTSW |
11 |
54,285,517 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2016-08-02 |
Incidental Mutation