Incidental Mutation 'R6444:Dcdc2c'
| ID |
519138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcdc2c
|
| Ensembl Gene |
ENSMUSG00000020633 |
| Gene Name |
doublecortin domain containing 2C |
| Synonyms |
1110015M06Rik |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
28487794-28602398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28585475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| 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 damaging
Transcript: ENSMUST00000020963
AA Change: V174A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
AA Change: V174A
| 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 |
unknown
Transcript: ENSMUST00000185916
AA Change: V106A
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189735
AA Change: V6A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140603
Gene: ENSMUSG00000020633
AA Change: V6A
| 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 damaging
Transcript: ENSMUST00000221349
AA Change: V174A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
R1214:Dcdc2c
|
UTSW |
12 |
28,580,429 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GGTTCTGGGAAACAAGGTTCC -3'
(R):5'- CACGCACTGTTAAGGGTTAATCAG -3'
Sequencing Primer
(F):5'- CTGGGAAACAAGGTTCCTTATTGCC -3'
(R):5'- ACCCTTACAGCGTTTTCA -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation