Incidental Mutation 'R1293:Mcidas'
| ID |
150719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcidas
|
| Ensembl Gene |
ENSMUSG00000074651 |
| Gene Name |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
| Synonyms |
Gm6320, Mcin, Idas, Mci, multicilin |
| MMRRC Submission |
039359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113130379-113136928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113133926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092089]
|
| AlphaFold |
Q3UZ45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092089
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089721
Gene: ENSMUSG00000074651
AA Change: T137A
| 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 |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
| Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
| Ate1 |
G |
A |
7: 129,996,455 (GRCm39) |
R505C |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,048,996 (GRCm39) |
T470A |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,521,422 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
| Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
| Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
| Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
| Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
| Sgcb |
C |
A |
5: 73,792,870 (GRCm39) |
V311F |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,201,196 (GRCm39) |
N43Y |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGATGGTGGGACAGACGTTAAG -3'
(R):5'- TTCTCTATGAGAGCAGTCCCCAGTG -3'
Sequencing Primer
(F):5'- GCTTCAGGTTAGCTCAGCAG -3'
(R):5'- CAGTGCCCTCTGGTTCTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation