Incidental Mutation 'R1214:Dcdc2c'
ID |
99533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcdc2c
|
Ensembl Gene |
ENSMUSG00000020633 |
Gene Name |
doublecortin domain containing 2C |
Synonyms |
1110015M06Rik |
MMRRC Submission |
039283-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1214 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
28487794-28602398 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 28580429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 201
(Y201*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020963]
[ENSMUST00000189735]
[ENSMUST00000221349]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000020963
AA Change: Y201*
|
SMART Domains |
Protein: ENSMUSP00000020963 Gene: ENSMUSG00000020633 AA Change: Y201*
Domain | Start | End | E-Value | Type |
DCX
|
11 |
98 |
2.16e-29 |
SMART |
DCX
|
131 |
217 |
6.18e-7 |
SMART |
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000185916
AA Change: Y133*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189735
AA Change: Y33*
|
SMART Domains |
Protein: ENSMUSP00000140603 Gene: ENSMUSG00000020633 AA Change: Y33*
Domain | Start | End | E-Value | Type |
Pfam:DCX
|
1 |
44 |
1.5e-9 |
PFAM |
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221349
AA Change: Y201*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Dock9 |
C |
T |
14: 121,823,728 (GRCm39) |
V1395I |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Micall2 |
T |
C |
5: 139,697,396 (GRCm39) |
S652G |
probably damaging |
Het |
Or1j13 |
G |
T |
2: 36,369,981 (GRCm39) |
H54N |
possibly damaging |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or4f4b |
T |
C |
2: 111,314,237 (GRCm39) |
F154S |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,280,987 (GRCm39) |
S643C |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
Slfn5 |
A |
G |
11: 82,850,917 (GRCm39) |
M405V |
probably benign |
Het |
Ttc29 |
A |
G |
8: 79,052,211 (GRCm39) |
Y364C |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,953,140 (GRCm39) |
V100A |
possibly damaging |
Het |
Wasf3 |
G |
A |
5: 146,407,098 (GRCm39) |
V473M |
probably damaging |
Het |
|
Other mutations in Dcdc2c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02892:Dcdc2c
|
APN |
12 |
28,585,544 (GRCm39) |
missense |
probably benign |
0.03 |
R3040:Dcdc2c
|
UTSW |
12 |
28,602,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Dcdc2c
|
UTSW |
12 |
28,580,472 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5268:Dcdc2c
|
UTSW |
12 |
28,566,656 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5920:Dcdc2c
|
UTSW |
12 |
28,585,536 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5921:Dcdc2c
|
UTSW |
12 |
28,574,774 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6444:Dcdc2c
|
UTSW |
12 |
28,585,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6939:Dcdc2c
|
UTSW |
12 |
28,591,496 (GRCm39) |
missense |
probably benign |
0.09 |
R7044:Dcdc2c
|
UTSW |
12 |
28,520,493 (GRCm39) |
utr 3 prime |
probably benign |
|
R7235:Dcdc2c
|
UTSW |
12 |
28,520,718 (GRCm39) |
missense |
|
|
R7287:Dcdc2c
|
UTSW |
12 |
28,566,685 (GRCm39) |
missense |
probably benign |
|
R7767:Dcdc2c
|
UTSW |
12 |
28,520,256 (GRCm39) |
missense |
|
|
R7896:Dcdc2c
|
UTSW |
12 |
28,520,619 (GRCm39) |
nonsense |
probably null |
|
R7964:Dcdc2c
|
UTSW |
12 |
28,520,318 (GRCm39) |
missense |
|
|
R8802:Dcdc2c
|
UTSW |
12 |
28,576,720 (GRCm39) |
missense |
probably benign |
|
R9111:Dcdc2c
|
UTSW |
12 |
28,585,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R9545:Dcdc2c
|
UTSW |
12 |
28,602,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9578:Dcdc2c
|
UTSW |
12 |
28,602,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Dcdc2c
|
UTSW |
12 |
28,585,553 (GRCm39) |
missense |
|
|
Z1176:Dcdc2c
|
UTSW |
12 |
28,574,706 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAAAATGGTCACTCAGACCAGAG -3'
(R):5'- TGTGCAGTCCAGGAAGAACAGCTC -3'
Sequencing Primer
(F):5'- agagacagagacagagagacag -3'
(R):5'- AGCTCCCAAAGGCTTCCTG -3'
|
Posted On |
2014-01-15 |