Incidental Mutation 'IGL02567:Deup1'
ID |
298868 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02567
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15486579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 367
(E367G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045513]
[ENSMUST00000115592]
[ENSMUST00000115593]
|
AlphaFold |
Q7M6Y5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045513
AA Change: E461G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039912 Gene: ENSMUSG00000039977 AA Change: E461G
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 damaging
Transcript: ENSMUST00000115592
AA Change: E367G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111255 Gene: ENSMUSG00000039977 AA Change: E367G
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: ENSMUST00000115593
AA Change: E367G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111256 Gene: ENSMUSG00000039977 AA Change: E367G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |