Incidental Mutation 'R2304:Dcdc5'
| ID |
244517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcdc5
|
| Ensembl Gene |
ENSMUSG00000074981 |
| Gene Name |
doublecortin domain containing 5 |
| Synonyms |
4732421G10Rik, EG436559 |
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
105833674-106236496 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
T to A
at 106166488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152776
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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 doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found, but the full-length nature of some variants is not determined. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Dcdc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0017:Dcdc5
|
UTSW |
2 |
106,187,541 (GRCm39) |
splice site |
noncoding transcript |
|
|
R0017:Dcdc5
|
UTSW |
2 |
106,187,541 (GRCm39) |
splice site |
noncoding transcript |
|
|
R0544:Dcdc5
|
UTSW |
2 |
106,181,909 (GRCm39) |
exon |
noncoding transcript |
|
|
R0563:Dcdc5
|
UTSW |
2 |
106,180,035 (GRCm39) |
exon |
noncoding transcript |
|
|
R1456:Dcdc5
|
UTSW |
2 |
106,181,910 (GRCm39) |
exon |
noncoding transcript |
|
|
R1476:Dcdc5
|
UTSW |
2 |
106,188,977 (GRCm39) |
exon |
noncoding transcript |
|
|
R1521:Dcdc5
|
UTSW |
2 |
106,182,014 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R1555:Dcdc5
|
UTSW |
2 |
106,214,480 (GRCm39) |
exon |
noncoding transcript |
|
|
R2280:Dcdc5
|
UTSW |
2 |
106,202,867 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R3775:Dcdc5
|
UTSW |
2 |
106,202,738 (GRCm39) |
exon |
noncoding transcript |
|
|
R4820:Dcdc5
|
UTSW |
2 |
106,166,420 (GRCm39) |
exon |
noncoding transcript |
|
|
R4874:Dcdc5
|
UTSW |
2 |
106,198,451 (GRCm39) |
exon |
noncoding transcript |
|
|
R4910:Dcdc5
|
UTSW |
2 |
106,195,895 (GRCm39) |
exon |
noncoding transcript |
|
|
R5285:Dcdc5
|
UTSW |
2 |
106,198,500 (GRCm39) |
exon |
noncoding transcript |
|
|
R5583:Dcdc5
|
UTSW |
2 |
106,195,778 (GRCm39) |
exon |
noncoding transcript |
|
|
R5634:Dcdc5
|
UTSW |
2 |
106,234,325 (GRCm39) |
exon |
noncoding transcript |
|
|
R6313:Dcdc5
|
UTSW |
2 |
106,198,516 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTGGCCAGTAGAAGG -3'
(R):5'- AGAGCTGTTTACACTTCCACTC -3'
Sequencing Primer
(F):5'- GGTCTATTGGACACAAACAGCTCTC -3'
(R):5'- CAGAAGAGATCAATTTAAGGACCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation