Incidental Mutation 'R9360:Depdc1a'
| ID |
708619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R9360 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159232168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 640
(M640V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029825
AA Change: M640V
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: M640V
| 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: M363V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: M363V
| 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: M640V
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: M640V
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
G |
12: 81,468,261 (GRCm39) |
L120P |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,334 (GRCm39) |
S259P |
probably damaging |
Het |
| Atp6v0a2 |
C |
A |
5: 124,767,259 (GRCm39) |
S7R |
possibly damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,594,336 (GRCm39) |
A2274V |
probably benign |
Het |
| Caml |
A |
C |
13: 55,771,030 (GRCm39) |
N43H |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,379,445 (GRCm39) |
S518P |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,924,349 (GRCm39) |
I546V |
probably null |
Het |
| Chac1 |
C |
T |
2: 119,182,854 (GRCm39) |
T84I |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,644,686 (GRCm39) |
T1201A |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
| Cyp4f17 |
C |
T |
17: 32,743,880 (GRCm39) |
R353C |
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,798,469 (GRCm39) |
V633A |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,415,189 (GRCm39) |
Y14* |
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Ftdc1 |
T |
C |
16: 58,434,234 (GRCm39) |
D161G |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,289,752 (GRCm39) |
V179E |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,299 (GRCm39) |
F208L |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,790,037 (GRCm39) |
S4P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,932,672 (GRCm39) |
I717N |
probably damaging |
Het |
| Hormad1 |
G |
A |
3: 95,483,622 (GRCm39) |
A145T |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,838,826 (GRCm39) |
C33* |
probably null |
Het |
| Kif13a |
A |
T |
13: 46,962,472 (GRCm39) |
S561T |
probably benign |
Het |
| Klhl20 |
G |
T |
1: 160,921,269 (GRCm39) |
P571Q |
probably benign |
Het |
| Kpna6 |
A |
T |
4: 129,547,635 (GRCm39) |
M304K |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,476,729 (GRCm39) |
K387E |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,752 (GRCm39) |
K216* |
probably null |
Het |
| Meioc |
A |
G |
11: 102,565,779 (GRCm39) |
N409S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,888,402 (GRCm39) |
|
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,943 (GRCm39) |
I374N |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,943,319 (GRCm39) |
I652T |
possibly damaging |
Het |
| Nhsl1 |
G |
A |
10: 18,194,898 (GRCm39) |
G56R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,650 (GRCm39) |
I1894V |
probably benign |
Het |
| Olig2 |
A |
C |
16: 91,023,774 (GRCm39) |
T163P |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,765 (GRCm39) |
S242P |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,684 (GRCm39) |
I185T |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,266,977 (GRCm39) |
L118Q |
probably damaging |
Het |
| Or7e168 |
T |
A |
9: 19,720,529 (GRCm39) |
V305D |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,878,775 (GRCm39) |
|
probably null |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,551 (GRCm39) |
I508T |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,859,787 (GRCm39) |
F281S |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,516 (GRCm39) |
M74K |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Rhag |
T |
C |
17: 41,142,548 (GRCm39) |
V251A |
possibly damaging |
Het |
| Rrs1 |
A |
G |
1: 9,616,845 (GRCm39) |
*366W |
probably null |
Het |
| Sgpp2 |
A |
G |
1: 78,367,143 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc44a3 |
C |
A |
3: 121,325,908 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,956 (GRCm39) |
M257V |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tet2 |
G |
T |
3: 133,192,903 (GRCm39) |
N510K |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,550 (GRCm39) |
I836M |
unknown |
Het |
| Thada |
A |
G |
17: 84,499,410 (GRCm39) |
V1929A |
probably benign |
Het |
| Tram1l1 |
A |
T |
3: 124,115,899 (GRCm39) |
D353V |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,094,734 (GRCm39) |
|
probably null |
Het |
| Trim15 |
A |
T |
17: 37,177,942 (GRCm39) |
C18S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,952 (GRCm39) |
I211T |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,165 (GRCm39) |
V501A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,428 (GRCm39) |
E341G |
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 |
|
R8488:Depdc1a
|
UTSW |
3 |
159,229,512 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
X0026:Depdc1a
|
UTSW |
3 |
159,204,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCTCTCTGTTAATGGAAGC -3'
(R):5'- GGCTCAAAATACCTACATTGCC -3'
Sequencing Primer
(F):5'- ATCTCTCTGTTAATGGAAGCTGTGAC -3'
(R):5'- TGCCCTTTTTAATGTAGTCAAGATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation