Incidental Mutation 'IGL03147:Deup1'
| ID |
453119 |
| 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 # |
IGL03147 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15521910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 85
(M85K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045513]
[ENSMUST00000115592]
[ENSMUST00000115593]
[ENSMUST00000152377]
|
| AlphaFold |
Q7M6Y5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045513
AA Change: M85K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: M85K
| 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: M85K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: M85K
| 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: M85K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: M85K
| 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: ENSMUST00000152377
AA Change: M85K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: M85K
| 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 |
|
| Meta Mutation Damage Score |
0.2452 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
91% (39/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,763 (GRCm39) |
S552P |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,716,354 (GRCm39) |
Y157C |
probably damaging |
Het |
| Ext1 |
T |
A |
15: 52,951,468 (GRCm39) |
I539F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,748,917 (GRCm39) |
V1849A |
possibly damaging |
Het |
| Gpr161 |
A |
G |
1: 165,144,877 (GRCm39) |
T389A |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Mir205hg |
T |
A |
1: 193,189,768 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,309,342 (GRCm39) |
Y1318F |
probably damaging |
Het |
| Or4c120 |
A |
G |
2: 89,001,316 (GRCm39) |
M80T |
probably benign |
Het |
| Pml |
T |
C |
9: 58,137,326 (GRCm39) |
H491R |
possibly damaging |
Het |
| Rbmxl2 |
T |
G |
7: 106,808,858 (GRCm39) |
S48A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,138,620 (GRCm39) |
D318G |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,302,286 (GRCm39) |
|
probably benign |
Het |
| Sfi1 |
G |
A |
11: 3,136,080 (GRCm39) |
T84I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,773,519 (GRCm39) |
M275V |
possibly damaging |
Het |
| Sp110 |
GC |
GCC |
1: 85,519,288 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,108 (GRCm39) |
V288A |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,732,377 (GRCm39) |
V118I |
probably damaging |
Het |
| St8sia2 |
C |
A |
7: 73,616,567 (GRCm39) |
C136F |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,993 (GRCm39) |
I21N |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,542,311 (GRCm39) |
K25231N |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,650 (GRCm39) |
I68F |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,140,638 (GRCm39) |
Y228* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGTGCAGATGCTATC -3'
(R):5'- ACGACAAACATTTGCCCTTGG -3'
Sequencing Primer
(F):5'- ACCCATGAGATAGTGAAAGTCTG -3'
(R):5'- TTGGCTCTGTGCAGCGC -3'
|
| Posted On |
2017-01-27 |
Incidental Mutation