Incidental Mutation 'R6639:Depdc7'
| ID |
525636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc7
|
| Ensembl Gene |
ENSMUSG00000027173 |
| Gene Name |
DEP domain containing 7 |
| Synonyms |
|
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104552129-104573202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104555098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 271
(D271N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028595]
|
| AlphaFold |
Q91WS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028595
AA Change: D271N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: D271N
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
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 |
|
R0908: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 |
|
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'- CAGGAGCTCTGCTATCCCATTATG -3'
(R):5'- GGTGACCTTCTCATCCTTAATGTAG -3'
Sequencing Primer
(F):5'- CCCATTATGAACATCATACAGGTGG -3'
(R):5'- CACAAAAGGAAAATGGAATGTAGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation