Incidental Mutation 'IGL01355:Mcidas'
ID |
75500 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcidas
|
Ensembl Gene |
ENSMUSG00000074651 |
Gene Name |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
Synonyms |
Gm6320, Mcin, Idas, Mci, multicilin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01355
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
113130379-113136928 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113135603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 342
(F342S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092089]
|
AlphaFold |
Q3UZ45 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092089
AA Change: F342S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089721 Gene: ENSMUSG00000074651 AA Change: F342S
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
Pfam:Geminin
|
169 |
258 |
4.8e-20 |
PFAM |
low complexity region
|
262 |
272 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ajap1 |
C |
T |
4: 153,470,938 (GRCm39) |
V290I |
probably damaging |
Het |
Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
Tas2r108 |
A |
G |
6: 40,470,685 (GRCm39) |
T54A |
possibly damaging |
Het |
Tmem121b |
A |
G |
6: 120,469,427 (GRCm39) |
L430P |
probably damaging |
Het |
Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
Zbtb49 |
A |
G |
5: 38,367,960 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mcidas |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Mcidas
|
APN |
13 |
113,134,119 (GRCm39) |
splice site |
probably benign |
|
IGL02000:Mcidas
|
APN |
13 |
113,133,974 (GRCm39) |
missense |
probably benign |
|
IGL02019:Mcidas
|
APN |
13 |
113,133,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0145:Mcidas
|
UTSW |
13 |
113,130,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R0412:Mcidas
|
UTSW |
13 |
113,135,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1293:Mcidas
|
UTSW |
13 |
113,133,926 (GRCm39) |
missense |
probably benign |
|
R2011:Mcidas
|
UTSW |
13 |
113,130,515 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4183:Mcidas
|
UTSW |
13 |
113,130,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R4905:Mcidas
|
UTSW |
13 |
113,134,038 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4905:Mcidas
|
UTSW |
13 |
113,130,951 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5615:Mcidas
|
UTSW |
13 |
113,133,959 (GRCm39) |
missense |
probably benign |
0.01 |
R5997:Mcidas
|
UTSW |
13 |
113,135,120 (GRCm39) |
missense |
probably damaging |
0.99 |
R6848:Mcidas
|
UTSW |
13 |
113,130,419 (GRCm39) |
missense |
probably benign |
|
R7387:Mcidas
|
UTSW |
13 |
113,130,622 (GRCm39) |
missense |
probably benign |
0.03 |
R7398:Mcidas
|
UTSW |
13 |
113,133,416 (GRCm39) |
missense |
probably benign |
|
R7742:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7872:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7920:Mcidas
|
UTSW |
13 |
113,135,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Mcidas
|
UTSW |
13 |
113,130,664 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9342:Mcidas
|
UTSW |
13 |
113,130,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Mcidas
|
UTSW |
13 |
113,135,453 (GRCm39) |
missense |
probably benign |
0.04 |
X0066:Mcidas
|
UTSW |
13 |
113,133,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2013-10-07 |