Incidental Mutation 'R7948:Deup1'
| ID |
615978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Deup1
|
| Ensembl Gene |
ENSMUSG00000039977 |
| Gene Name |
deuterosome assembly protein 1 |
| Synonyms |
4933401K09Rik, Ccdc67 |
| MMRRC Submission |
045993-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15471160-15539229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15521944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 74
(K74E)
|
| 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: K74E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: K74E
| 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: K74E
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: K74E
| 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: K74E
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: K74E
| 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: K74E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: K74E
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
CGGTCTAGCTGAGCAGGAGGCAGCTCAGG |
CGG |
14: 70,394,815 (GRCm39) |
|
probably null |
Het |
| Abca8a |
A |
T |
11: 109,941,805 (GRCm39) |
Y1155N |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,687,199 (GRCm39) |
R435K |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,707 (GRCm39) |
D1233G |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,961,194 (GRCm39) |
R1639H |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,832,910 (GRCm39) |
T496A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,508,258 (GRCm39) |
M1257V |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,528,186 (GRCm39) |
|
probably null |
Het |
| Cts3 |
T |
C |
13: 61,713,863 (GRCm39) |
E288G |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,092,992 (GRCm39) |
Y101* |
probably null |
Het |
| Ercc4 |
A |
G |
16: 12,948,049 (GRCm39) |
D422G |
probably benign |
Het |
| Exoc6 |
A |
C |
19: 37,565,422 (GRCm39) |
N166T |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,478,409 (GRCm39) |
Y47C |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,183,219 (GRCm39) |
Q1753H |
probably damaging |
Het |
| Gal3st4 |
C |
T |
5: 138,269,262 (GRCm39) |
R66Q |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Golm1 |
C |
A |
13: 59,812,011 (GRCm39) |
|
probably null |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,230 (GRCm39) |
H434R |
probably damaging |
Het |
| Hbegf |
A |
G |
18: 36,639,752 (GRCm39) |
L194S |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,279 (GRCm39) |
S301P |
probably benign |
Het |
| Il9r |
A |
C |
11: 32,144,486 (GRCm39) |
C106W |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,994 (GRCm39) |
D389G |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,921,174 (GRCm39) |
D3373E |
possibly damaging |
Het |
| Mkrn1 |
T |
A |
6: 39,377,344 (GRCm39) |
Y361F |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,058,296 (GRCm39) |
R45Q |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,786 (GRCm39) |
I4169N |
unknown |
Het |
| Myo7a |
C |
T |
7: 97,724,236 (GRCm39) |
G1150S |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,135,306 (GRCm39) |
D503G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,281,535 (GRCm39) |
I46V |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nrros |
A |
T |
16: 31,981,076 (GRCm39) |
N17K |
unknown |
Het |
| Or51a39 |
C |
T |
7: 102,362,895 (GRCm39) |
V242I |
probably benign |
Het |
| Patj |
A |
T |
4: 98,312,547 (GRCm39) |
K295M |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,516,222 (GRCm39) |
T167A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,815,180 (GRCm39) |
L1212* |
probably null |
Het |
| Peg3 |
T |
A |
7: 6,711,781 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,432,420 (GRCm39) |
N77K |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,393,903 (GRCm39) |
I257V |
possibly damaging |
Het |
| Ptprc |
G |
A |
1: 137,992,314 (GRCm39) |
T1132I |
probably benign |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,240,156 (GRCm39) |
M293K |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,833,229 (GRCm39) |
W1749R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,302,091 (GRCm39) |
Y1020* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,598,523 (GRCm39) |
Y19463* |
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,443,996 (GRCm39) |
D18E |
probably benign |
Het |
| Ubtd1 |
T |
A |
19: 42,022,174 (GRCm39) |
F149I |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,349,658 (GRCm39) |
K3279R |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,540 (GRCm39) |
T1117A |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,096 (GRCm39) |
C289S |
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 |
|
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'- GACTCAAGAACATTCGCTTGTATG -3'
(R):5'- GCACTGTCCTAAAGCACAGC -3'
Sequencing Primer
(F):5'- CAAGAACATTCGCTTGTATGTAAAAC -3'
(R):5'- GCCTGCTTTCTGTGAACTCAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation