Incidental Mutation 'R0908:Depdc7'
ID |
83381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc7
|
Ensembl Gene |
ENSMUSG00000027173 |
Gene Name |
DEP domain containing 7 |
Synonyms |
|
MMRRC Submission |
039066-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0908 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
104552129-104573202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104558437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 195
(S195P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028595]
|
AlphaFold |
Q91WS7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028595
AA Change: S195P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000028595 Gene: ENSMUSG00000027173 AA Change: S195P
Domain | Start | End | E-Value | Type |
DEP
|
46 |
136 |
4.97e-24 |
SMART |
low complexity region
|
461 |
478 |
N/A |
INTRINSIC |
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144133
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
Het |
|
Other mutations in Depdc7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01065:Depdc7
|
APN |
2 |
104,552,426 (GRCm39) |
nonsense |
probably null |
|
IGL01419:Depdc7
|
APN |
2 |
104,552,455 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02043:Depdc7
|
APN |
2 |
104,560,626 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02819:Depdc7
|
APN |
2 |
104,555,071 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02869:Depdc7
|
APN |
2 |
104,560,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02942:Depdc7
|
APN |
2 |
104,558,439 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4354001:Depdc7
|
UTSW |
2 |
104,558,533 (GRCm39) |
missense |
probably benign |
0.01 |
R0396:Depdc7
|
UTSW |
2 |
104,557,668 (GRCm39) |
splice site |
probably benign |
|
R0616:Depdc7
|
UTSW |
2 |
104,557,650 (GRCm39) |
missense |
probably benign |
0.33 |
R0631:Depdc7
|
UTSW |
2 |
104,552,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0633:Depdc7
|
UTSW |
2 |
104,553,226 (GRCm39) |
missense |
probably benign |
|
R0856:Depdc7
|
UTSW |
2 |
104,558,437 (GRCm39) |
missense |
probably benign |
0.01 |
R1184:Depdc7
|
UTSW |
2 |
104,560,523 (GRCm39) |
splice site |
probably benign |
|
R2129:Depdc7
|
UTSW |
2 |
104,558,518 (GRCm39) |
missense |
probably benign |
0.00 |
R5144:Depdc7
|
UTSW |
2 |
104,560,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6639:Depdc7
|
UTSW |
2 |
104,555,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R7304:Depdc7
|
UTSW |
2 |
104,553,463 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7552:Depdc7
|
UTSW |
2 |
104,557,585 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7612:Depdc7
|
UTSW |
2 |
104,560,853 (GRCm39) |
missense |
probably benign |
0.39 |
R7835:Depdc7
|
UTSW |
2 |
104,558,530 (GRCm39) |
missense |
probably benign |
0.00 |
R8274:Depdc7
|
UTSW |
2 |
104,558,551 (GRCm39) |
missense |
probably benign |
0.12 |
R8475:Depdc7
|
UTSW |
2 |
104,552,314 (GRCm39) |
missense |
probably benign |
0.07 |
R8940:Depdc7
|
UTSW |
2 |
104,554,913 (GRCm39) |
critical splice donor site |
probably null |
|
R9499:Depdc7
|
UTSW |
2 |
104,553,220 (GRCm39) |
critical splice donor site |
probably null |
|
R9551:Depdc7
|
UTSW |
2 |
104,553,220 (GRCm39) |
critical splice donor site |
probably null |
|
X0028:Depdc7
|
UTSW |
2 |
104,560,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTTCAGACTTGAAGCCCTGCC -3'
(R):5'- TGAAACATAAGCTCCGTAGCCACTG -3'
Sequencing Primer
(F):5'- AAGCCCTGCCAGCAGATG -3'
(R):5'- GCAGCTCTAACACTCATCATTACTG -3'
|
Posted On |
2013-11-08 |