Incidental Mutation 'IGL02000:Mcidas'
| ID |
182992 |
| 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 # |
IGL02000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113130379-113136928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113133974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 153
(S153P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092089]
|
| AlphaFold |
Q3UZ45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092089
AA Change: S153P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: S153P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
| Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
| Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
| Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
| Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
| Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
| Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
| Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
| Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
probably damaging |
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 |
|
|
IGL01355:Mcidas
|
APN |
13 |
113,135,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation