Incidental Mutation 'R8373:Deup1'
ID |
646544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Deup1
|
Ensembl Gene |
ENSMUSG00000039977 |
Gene Name |
deuterosome assembly protein 1 |
Synonyms |
4933401K09Rik, Ccdc67 |
MMRRC Submission |
067741-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8373 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15503671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 297
(L297M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045513]
[ENSMUST00000115592]
[ENSMUST00000115593]
[ENSMUST00000152377]
|
AlphaFold |
Q7M6Y5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045513
AA Change: L297M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039912 Gene: ENSMUSG00000039977 AA Change: L297M
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 |
possibly damaging
Transcript: ENSMUST00000115592
AA Change: L297M
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000111255 Gene: ENSMUSG00000039977 AA Change: L297M
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 |
possibly damaging
Transcript: ENSMUST00000115593
AA Change: L297M
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000111256 Gene: ENSMUSG00000039977 AA Change: L297M
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 damaging
Transcript: ENSMUST00000152377
AA Change: L297M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121526 Gene: ENSMUSG00000039977 AA Change: L297M
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
|
353 |
397 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
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 |
|
R2929:Deup1
|
UTSW |
9 |
15,486,484 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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'- CTTTACATACATGTATCCTGCACAC -3'
(R):5'- GCAATGGCAGTAGACTGTGTTG -3'
Sequencing Primer
(F):5'- TGTATCCTGCACACACACACATC -3'
(R):5'- CAGTAGACTGTGTTGTTTTAAGAGC -3'
|
Posted On |
2020-09-02 |