Incidental Mutation 'R4023:Depdc1a'
| ID |
313334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
040957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 159221786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029825
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
| 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 null
Transcript: ENSMUST00000106041
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
| 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 |
probably null
Transcript: ENSMUST00000120272
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
T |
C |
9: 26,890,481 (GRCm39) |
I276V |
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
| Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
| Or8c17 |
G |
A |
9: 38,180,757 (GRCm39) |
C308Y |
possibly damaging |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,727 (GRCm39) |
T28A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
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 |
|
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 |
|
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'- TGTTGCAAGTCATGTTCTTTTCC -3'
(R):5'- TTTTGGATGTTTATCACTGCCAT -3'
Sequencing Primer
(F):5'- GTTTGCCATCCATAGAAGAAC -3'
(R):5'- GCTAAATGAATGTGTCCTAGGA -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation