Incidental Mutation 'R3040:Dcdc2c'
| ID |
264925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcdc2c
|
| Ensembl Gene |
ENSMUSG00000020633 |
| Gene Name |
doublecortin domain containing 2C |
| Synonyms |
1110015M06Rik |
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
28487794-28602398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 28602181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 41
(A41G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020963]
[ENSMUST00000020965]
[ENSMUST00000110917]
[ENSMUST00000189735]
[ENSMUST00000221349]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020963
AA Change: A41G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
AA Change: A41G
| 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 benign
Transcript: ENSMUST00000020965
|
| SMART Domains |
Protein: ENSMUSP00000020965
Gene: ENSMUSG00000020636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Allantoicase
|
28 |
201 |
3e-51 |
PFAM |
|
Pfam:Allantoicase
|
224 |
385 |
1.9e-39 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110917
|
| SMART Domains |
Protein: ENSMUSP00000106542
Gene: ENSMUSG00000020636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Allantoicase
|
28 |
201 |
3e-51 |
PFAM |
|
Pfam:Allantoicase
|
224 |
385 |
1.9e-39 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189735
|
| SMART Domains |
Protein: ENSMUSP00000140603
Gene: ENSMUSG00000020633
| 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 benign
Transcript: ENSMUST00000221349
AA Change: A41G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
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 |
|
|
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'- ACTTACTCCAGCTTCTTGAAGC -3'
(R):5'- ATGTCCCTGATCAGTCACCC -3'
Sequencing Primer
(F):5'- TTCTTGAAGCGCTCCCGG -3'
(R):5'- TGCAGGCTCAGGACCCATTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation