Incidental Mutation 'R5231:Deup1'
| ID |
398528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Deup1
|
| Ensembl Gene |
ENSMUSG00000039977 |
| Gene Name |
deuterosome assembly protein 1 |
| Synonyms |
4933401K09Rik, Ccdc67 |
| MMRRC Submission |
042803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15486495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 395
(A395E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045513]
[ENSMUST00000115592]
[ENSMUST00000115593]
|
| AlphaFold |
Q7M6Y5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045513
AA Change: A489E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: A489E
| 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: A395E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: A395E
| 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: A395E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: A395E
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
| Bche |
G |
A |
3: 73,608,194 (GRCm39) |
P411S |
probably benign |
Het |
| Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
| Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
| Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
| Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
| Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
| Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
| Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,853,094 (GRCm39) |
F64S |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,502,501 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
| Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
C |
A |
9: 92,148,784 (GRCm39) |
P208H |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,586 (GRCm39) |
Y172C |
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 |
|
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 |
|
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'- TGAGTGTTCCATAAACGTCCAC -3'
Sequencing Primer
(F):5'- AAACAGTGTGTCCAGACTCCTGTG -3'
(R):5'- GTGTTCCATAAACGTCCACTCAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation