Incidental Mutation 'R2929:Deup1'
ID |
254949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Deup1
|
Ensembl Gene |
ENSMUSG00000039977 |
Gene Name |
deuterosome assembly protein 1 |
Synonyms |
4933401K09Rik, Ccdc67 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2929 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15486484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 399
(V399I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045513]
[ENSMUST00000115592]
[ENSMUST00000115593]
|
AlphaFold |
Q7M6Y5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045513
AA Change: V493I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039912 Gene: ENSMUSG00000039977 AA Change: V493I
Domain | Start | End | E-Value | Type |
Pfam:CEP63
|
11 |
279 |
7.7e-92 |
PFAM |
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
coiled coil region
|
353 |
397 |
N/A |
INTRINSIC |
coiled coil region
|
555 |
586 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115592
AA Change: V399I
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000111255 Gene: ENSMUSG00000039977 AA Change: V399I
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
166 |
196 |
N/A |
INTRINSIC |
coiled coil region
|
226 |
277 |
N/A |
INTRINSIC |
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115593
AA Change: V399I
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000111256 Gene: ENSMUSG00000039977 AA Change: V399I
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
166 |
196 |
N/A |
INTRINSIC |
coiled coil region
|
226 |
277 |
N/A |
INTRINSIC |
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137164
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd177 |
G |
A |
7: 24,453,704 (GRCm39) |
Q396* |
probably null |
Het |
Cdadc1 |
A |
T |
14: 59,835,284 (GRCm39) |
M1K |
probably null |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Cnnm3 |
T |
A |
1: 36,563,140 (GRCm39) |
F701L |
possibly damaging |
Het |
Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,759,699 (GRCm39) |
V268A |
possibly damaging |
Het |
Dscam |
T |
A |
16: 96,486,612 (GRCm39) |
Q1021L |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,206,143 (GRCm39) |
K932* |
probably null |
Het |
Neurl2 |
T |
C |
2: 164,675,264 (GRCm39) |
N33D |
possibly damaging |
Het |
Pnma8b |
T |
C |
7: 16,680,617 (GRCm39) |
S534P |
possibly damaging |
Het |
Pole2 |
G |
A |
12: 69,256,712 (GRCm39) |
T271M |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,296,858 (GRCm39) |
M191V |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,185 (GRCm39) |
Q369R |
probably benign |
Het |
Rbm45 |
A |
G |
2: 76,208,763 (GRCm39) |
I300V |
probably benign |
Het |
Ro60 |
G |
A |
1: 143,633,616 (GRCm39) |
A494V |
possibly damaging |
Het |
Sco1 |
T |
A |
11: 66,954,748 (GRCm39) |
I251K |
probably damaging |
Het |
Spmip4 |
G |
A |
6: 50,551,285 (GRCm39) |
T388I |
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,122,984 (GRCm39) |
V582A |
possibly damaging |
Het |
Zfp219 |
T |
A |
14: 52,246,436 (GRCm39) |
E230D |
probably benign |
Het |
|
Other mutations in Deup1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Deup1
|
APN |
9 |
15,472,666 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00927:Deup1
|
APN |
9 |
15,521,967 (GRCm39) |
splice site |
probably benign |
|
IGL00946:Deup1
|
APN |
9 |
15,472,534 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02458:Deup1
|
APN |
9 |
15,503,656 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02567:Deup1
|
APN |
9 |
15,486,579 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03089:Deup1
|
APN |
9 |
15,519,096 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03220:Deup1
|
APN |
9 |
15,503,707 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03147:Deup1
|
UTSW |
9 |
15,521,910 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4468001:Deup1
|
UTSW |
9 |
15,475,301 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0035:Deup1
|
UTSW |
9 |
15,511,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0035:Deup1
|
UTSW |
9 |
15,511,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0324:Deup1
|
UTSW |
9 |
15,493,829 (GRCm39) |
missense |
probably benign |
0.01 |
R0539:Deup1
|
UTSW |
9 |
15,493,893 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0835:Deup1
|
UTSW |
9 |
15,511,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Deup1
|
UTSW |
9 |
15,486,487 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2212:Deup1
|
UTSW |
9 |
15,511,139 (GRCm39) |
missense |
probably benign |
0.00 |
R2237:Deup1
|
UTSW |
9 |
15,486,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Deup1
|
UTSW |
9 |
15,486,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Deup1
|
UTSW |
9 |
15,503,754 (GRCm39) |
nonsense |
probably null |
|
R3890:Deup1
|
UTSW |
9 |
15,511,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R3892:Deup1
|
UTSW |
9 |
15,511,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Deup1
|
UTSW |
9 |
15,499,323 (GRCm39) |
missense |
probably benign |
|
R4959:Deup1
|
UTSW |
9 |
15,523,310 (GRCm39) |
nonsense |
probably null |
|
R4960:Deup1
|
UTSW |
9 |
15,512,264 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4968:Deup1
|
UTSW |
9 |
15,503,724 (GRCm39) |
missense |
probably damaging |
0.99 |
R4973:Deup1
|
UTSW |
9 |
15,523,310 (GRCm39) |
nonsense |
probably null |
|
R5195:Deup1
|
UTSW |
9 |
15,486,487 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5231:Deup1
|
UTSW |
9 |
15,486,495 (GRCm39) |
missense |
probably damaging |
0.96 |
R5470:Deup1
|
UTSW |
9 |
15,493,916 (GRCm39) |
splice site |
probably null |
|
R5931:Deup1
|
UTSW |
9 |
15,472,618 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6049:Deup1
|
UTSW |
9 |
15,472,552 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6373:Deup1
|
UTSW |
9 |
15,472,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R6516:Deup1
|
UTSW |
9 |
15,521,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R7948:Deup1
|
UTSW |
9 |
15,521,944 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8373:Deup1
|
UTSW |
9 |
15,503,671 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8725:Deup1
|
UTSW |
9 |
15,503,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Deup1
|
UTSW |
9 |
15,511,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R9462:Deup1
|
UTSW |
9 |
15,493,882 (GRCm39) |
missense |
probably benign |
0.04 |
R9545:Deup1
|
UTSW |
9 |
15,519,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Deup1
|
UTSW |
9 |
15,519,128 (GRCm39) |
missense |
probably benign |
0.11 |
Z1177:Deup1
|
UTSW |
9 |
15,512,199 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAATTGCCAGCCTGTAC -3'
(R):5'- GTTCCATAAACGTCCACTCAGTG -3'
Sequencing Primer
(F):5'- GCCAGCCTGTACTTTTTACAAAACAG -3'
(R):5'- TGAGAACGAAAGACTCCG -3'
|
Posted On |
2014-12-29 |