Incidental Mutation 'R8488:Depdc1a'
| ID |
657838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
067931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R8488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159229512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 615
(M615V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029825
AA Change: M615V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: M615V
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
low complexity region
|
505 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
SCOP:d1f7ca_
|
584 |
680 |
3e-9 |
SMART |
|
low complexity region
|
745 |
762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106041
AA Change: M338V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: M338V
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
Pfam:RhoGAP
|
251 |
357 |
2.3e-11 |
PFAM |
|
coiled coil region
|
460 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120272
AA Change: M615V
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: M615V
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
24 |
108 |
3.51e-24 |
SMART |
|
low complexity region
|
505 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
SCOP:d1f7ca_
|
584 |
680 |
4e-9 |
SMART |
|
coiled coil region
|
737 |
765 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
A |
G |
11: 120,238,517 (GRCm39) |
V160A |
possibly damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,033 (GRCm39) |
*96Q |
probably null |
Het |
| Ano2 |
A |
G |
6: 125,957,133 (GRCm39) |
Y634C |
probably damaging |
Het |
| Appl2 |
T |
C |
10: 83,446,866 (GRCm39) |
K406R |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,838,496 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
C |
A |
16: 29,236,654 (GRCm39) |
E868D |
possibly damaging |
Het |
| BC005624 |
T |
C |
2: 30,871,857 (GRCm39) |
K6E |
possibly damaging |
Het |
| Cd200l2 |
A |
G |
16: 45,348,834 (GRCm39) |
Y113H |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,965,002 (GRCm39) |
I2024N |
probably damaging |
Het |
| Clint1 |
T |
G |
11: 45,781,457 (GRCm39) |
Y176D |
probably damaging |
Het |
| Crxos |
T |
C |
7: 15,637,625 (GRCm39) |
S65P |
possibly damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,920,948 (GRCm39) |
T408A |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,066,850 (GRCm39) |
I194M |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,734,431 (GRCm39) |
Y803C |
probably damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,344 (GRCm39) |
L165P |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,517,491 (GRCm39) |
S438C |
possibly damaging |
Het |
| Gjb5 |
C |
A |
4: 127,250,078 (GRCm39) |
R22L |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,012 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
T |
A |
10: 75,667,823 (GRCm39) |
S211C |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,966,130 (GRCm39) |
K35E |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,431 (GRCm39) |
G2081R |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,396,356 (GRCm39) |
E2403K |
probably damaging |
Het |
| Or3a1 |
C |
T |
11: 74,225,932 (GRCm39) |
V42I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,343 (GRCm39) |
D189V |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,202 (GRCm39) |
M456L |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,201,836 (GRCm39) |
E274G |
possibly damaging |
Het |
| Pold3 |
T |
C |
7: 99,738,938 (GRCm39) |
Y303C |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Repin1 |
A |
T |
6: 48,570,952 (GRCm39) |
D2V |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,983 (GRCm39) |
V544E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,384,574 (GRCm39) |
F342S |
possibly damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,759,736 (GRCm39) |
N532S |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,958,520 (GRCm39) |
Y84S |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,416,686 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Tex48 |
C |
T |
4: 63,530,160 (GRCm39) |
E20K |
probably benign |
Het |
| Trip13 |
A |
T |
13: 74,081,032 (GRCm39) |
N111K |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,213,896 (GRCm39) |
N159K |
probably benign |
Het |
|
| Other mutations in Depdc1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Depdc1a
|
APN |
3 |
159,228,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL00581:Depdc1a
|
APN |
3 |
159,232,189 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00961:Depdc1a
|
APN |
3 |
159,229,451 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01530:Depdc1a
|
APN |
3 |
159,229,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01567:Depdc1a
|
APN |
3 |
159,232,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Depdc1a
|
APN |
3 |
159,222,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02622:Depdc1a
|
APN |
3 |
159,221,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02647:Depdc1a
|
APN |
3 |
159,228,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Depdc1a
|
UTSW |
3 |
159,221,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P4717OSA:Depdc1a
|
UTSW |
3 |
159,228,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Depdc1a
|
UTSW |
3 |
159,228,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Depdc1a
|
UTSW |
3 |
159,229,542 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0454:Depdc1a
|
UTSW |
3 |
159,222,537 (GRCm39) |
splice site |
probably null |
|
|
R0479:Depdc1a
|
UTSW |
3 |
159,226,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1317:Depdc1a
|
UTSW |
3 |
159,228,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Depdc1a
|
UTSW |
3 |
159,232,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1567:Depdc1a
|
UTSW |
3 |
159,228,177 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1669:Depdc1a
|
UTSW |
3 |
159,228,561 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1751:Depdc1a
|
UTSW |
3 |
159,228,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Depdc1a
|
UTSW |
3 |
159,229,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4023:Depdc1a
|
UTSW |
3 |
159,221,786 (GRCm39) |
splice site |
probably null |
|
|
R4254:Depdc1a
|
UTSW |
3 |
159,204,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4551:Depdc1a
|
UTSW |
3 |
159,228,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Depdc1a
|
UTSW |
3 |
159,232,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4782:Depdc1a
|
UTSW |
3 |
159,232,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Depdc1a
|
UTSW |
3 |
159,221,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4981:Depdc1a
|
UTSW |
3 |
159,229,550 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5100:Depdc1a
|
UTSW |
3 |
159,221,157 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5326:Depdc1a
|
UTSW |
3 |
159,232,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Depdc1a
|
UTSW |
3 |
159,229,591 (GRCm39) |
splice site |
probably null |
|
|
R5892:Depdc1a
|
UTSW |
3 |
159,232,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Depdc1a
|
UTSW |
3 |
159,204,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Depdc1a
|
UTSW |
3 |
159,221,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6674:Depdc1a
|
UTSW |
3 |
159,232,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7061:Depdc1a
|
UTSW |
3 |
159,228,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7366:Depdc1a
|
UTSW |
3 |
159,228,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7531:Depdc1a
|
UTSW |
3 |
159,228,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Depdc1a
|
UTSW |
3 |
159,221,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7981:Depdc1a
|
UTSW |
3 |
159,226,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8335:Depdc1a
|
UTSW |
3 |
159,228,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Depdc1a
|
UTSW |
3 |
159,219,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Depdc1a
|
UTSW |
3 |
159,228,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8727:Depdc1a
|
UTSW |
3 |
159,228,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9096:Depdc1a
|
UTSW |
3 |
159,204,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Depdc1a
|
UTSW |
3 |
159,204,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Depdc1a
|
UTSW |
3 |
159,232,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0026:Depdc1a
|
UTSW |
3 |
159,204,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTCACTTTGTTTTATAAGTGAAG -3'
(R):5'- TCATAAACGATGTAGAGATCAGGG -3'
Sequencing Primer
(F):5'- CAGTTTTTATCTTGCTA -3'
(R):5'- ATGGTTGCCTGTACAAGACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation