Incidental Mutation 'R7981:Depdc1a'
| ID |
651199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc1a
|
| Ensembl Gene |
ENSMUSG00000028175 |
| Gene Name |
DEP domain containing 1a |
| Synonyms |
5830484J08Rik |
| MMRRC Submission |
046022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R7981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
159201070-159235592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 159226488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 265
(N265S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029825]
[ENSMUST00000106041]
[ENSMUST00000120272]
|
| AlphaFold |
Q8CIG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029825
AA Change: N265S
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: N265S
| 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: N265S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: N265S
| 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 benign
Transcript: ENSMUST00000120272
AA Change: N265S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: N265S
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,360 (GRCm39) |
F278I |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,980,739 (GRCm39) |
T100A |
probably benign |
Het |
| Adam34l |
A |
G |
8: 44,078,850 (GRCm39) |
F458S |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,094,588 (GRCm39) |
T740A |
unknown |
Het |
| Aldh1a2 |
A |
T |
9: 71,171,102 (GRCm39) |
I197F |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,424,114 (GRCm39) |
T1009A |
probably benign |
Het |
| Antxrl |
T |
C |
14: 33,787,838 (GRCm39) |
V287A |
probably damaging |
Het |
| Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,562 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,407,551 (GRCm39) |
K1109M |
probably damaging |
Het |
| Ccdc28a |
A |
G |
10: 18,094,127 (GRCm39) |
L164P |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,489,797 (GRCm39) |
V469M |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,980,347 (GRCm39) |
|
probably null |
Het |
| Coq9 |
A |
G |
8: 95,569,285 (GRCm39) |
H39R |
probably benign |
Het |
| Crh |
T |
A |
3: 19,748,216 (GRCm39) |
E142V |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,052,929 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
G |
A |
6: 28,419,140 (GRCm39) |
L398F |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,288,264 (GRCm39) |
T320A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,036,231 (GRCm39) |
D704G |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,873,543 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,562 (GRCm39) |
Y135C |
unknown |
Het |
| Lpcat2 |
T |
C |
8: 93,582,182 (GRCm39) |
S34P |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
| Mbl2 |
C |
A |
19: 30,216,737 (GRCm39) |
T183K |
probably damaging |
Het |
| Mri1 |
A |
C |
8: 84,983,792 (GRCm39) |
V33G |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,497,687 (GRCm39) |
M184T |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,723 (GRCm39) |
Y1147F |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,969,485 (GRCm39) |
H1416Y |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,366,092 (GRCm39) |
F487S |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,089,591 (GRCm39) |
V1275I |
|
Het |
| Or4c116 |
A |
G |
2: 88,942,400 (GRCm39) |
F152S |
probably damaging |
Het |
| Or55b3 |
A |
T |
7: 102,127,036 (GRCm39) |
Y14N |
probably damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,003,547 (GRCm39) |
|
probably null |
Het |
| Pkn1 |
G |
T |
8: 84,407,637 (GRCm39) |
N463K |
probably damaging |
Het |
| Pramel24 |
T |
G |
4: 143,453,452 (GRCm39) |
F187V |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,216,963 (GRCm39) |
S816N |
probably damaging |
Het |
| Rassf4 |
G |
T |
6: 116,617,218 (GRCm39) |
D262E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,311,384 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,445,428 (GRCm39) |
T2290A |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,129,186 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,179,248 (GRCm39) |
K4409E |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,168,373 (GRCm39) |
V305A |
possibly damaging |
Het |
| Tmco4 |
T |
G |
4: 138,785,772 (GRCm39) |
L614R |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,070,592 (GRCm39) |
N245K |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,138 (GRCm39) |
V366A |
probably benign |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,914 (GRCm39) |
S269P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,887 (GRCm39) |
S494T |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,887 (GRCm39) |
I50L |
possibly damaging |
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 |
|
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'- GGCTGCTTACAGTAACTTCCAGTG -3'
(R):5'- GGCAAGTGGTGTTAAAGCATATTTG -3'
Sequencing Primer
(F):5'- CACCAGGTATGCATGTGGTAC -3'
(R):5'- AGCATATTTGAACCATTTGATCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation