Incidental Mutation 'R4753:Dus1l'
| ID |
357747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dus1l
|
| Ensembl Gene |
ENSMUSG00000025155 |
| Gene Name |
dihydrouridine synthase 1 like |
| Synonyms |
1110032N12Rik |
| MMRRC Submission |
041971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R4753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120680027-120687229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120682901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 299
(E299K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026151]
[ENSMUST00000100134]
[ENSMUST00000106133]
[ENSMUST00000106135]
[ENSMUST00000116305]
[ENSMUST00000129955]
[ENSMUST00000167023]
[ENSMUST00000208737]
[ENSMUST00000153678]
[ENSMUST00000172809]
[ENSMUST00000143139]
|
| AlphaFold |
Q8C2P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026151
AA Change: E299K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: E299K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
5.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100134
|
| SMART Domains |
Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
4.9e-78 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106133
AA Change: E299K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: E299K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
8.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106135
AA Change: E299K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: E299K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
314 |
8.5e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116305
|
| SMART Domains |
Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
123 |
305 |
1.3e-77 |
PFAM |
|
PINT
|
356 |
439 |
5.77e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129955
|
| SMART Domains |
Protein: ENSMUSP00000116619
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
166 |
5.8e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167023
AA Change: E299K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: E299K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
322 |
1.6e-75 |
PFAM |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172809
|
| SMART Domains |
Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
Pfam:RPN7
|
162 |
344 |
8.8e-77 |
PFAM |
|
PINT
|
395 |
478 |
5.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143139
|
| SMART Domains |
Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
20 |
194 |
1.6e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.2106 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
T |
A |
13: 112,500,009 (GRCm39) |
D257E |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,494,938 (GRCm39) |
V399A |
probably damaging |
Het |
| Atp8b5 |
C |
T |
4: 43,372,710 (GRCm39) |
P1117S |
probably damaging |
Het |
| Cd48 |
A |
G |
1: 171,527,156 (GRCm39) |
Q194R |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,937,833 (GRCm39) |
R737C |
probably damaging |
Het |
| Clasrp |
A |
T |
7: 19,328,865 (GRCm39) |
I89N |
probably damaging |
Het |
| Clrn1 |
G |
T |
3: 58,792,318 (GRCm39) |
N48K |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,043,451 (GRCm39) |
V1313E |
possibly damaging |
Het |
| Cyld |
T |
A |
8: 89,471,444 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dtl |
T |
C |
1: 191,301,815 (GRCm39) |
T81A |
probably damaging |
Het |
| E130114P18Rik |
A |
T |
4: 97,463,129 (GRCm39) |
D14E |
possibly damaging |
Het |
| Fam83g |
C |
A |
11: 61,586,095 (GRCm39) |
H228N |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,223,382 (GRCm39) |
K909N |
possibly damaging |
Het |
| Fign |
T |
A |
2: 63,809,363 (GRCm39) |
I636L |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,349,519 (GRCm39) |
E346G |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,126,204 (GRCm39) |
Y1271H |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,754,537 (GRCm39) |
V2379A |
probably benign |
Het |
| Grin2d |
G |
T |
7: 45,483,330 (GRCm39) |
P949Q |
probably damaging |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,762 (GRCm39) |
M53I |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,822,875 (GRCm39) |
*97W |
probably null |
Het |
| Jade1 |
C |
T |
3: 41,551,106 (GRCm39) |
R2* |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,615,141 (GRCm39) |
C1355F |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,710,752 (GRCm39) |
S12P |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,696,608 (GRCm39) |
T402A |
probably benign |
Het |
| Mill1 |
A |
C |
7: 17,996,472 (GRCm39) |
K96T |
probably benign |
Het |
| Muc19 |
T |
G |
15: 91,761,955 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5b |
C |
A |
7: 141,410,590 (GRCm39) |
T1321N |
unknown |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,875,978 (GRCm39) |
V150A |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,677 (GRCm39) |
I214F |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,342,185 (GRCm39) |
P669S |
probably damaging |
Het |
| Procr |
A |
G |
2: 155,595,384 (GRCm39) |
N63D |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,518,799 (GRCm39) |
S2136P |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,769 (GRCm39) |
M677V |
probably benign |
Het |
| Rad52 |
T |
A |
6: 119,889,946 (GRCm39) |
|
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,436,509 (GRCm39) |
|
probably null |
Het |
| Rogdi |
T |
C |
16: 4,828,363 (GRCm39) |
T189A |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,799,845 (GRCm39) |
T38M |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,707 (GRCm39) |
V655E |
possibly damaging |
Het |
| Sik3 |
T |
C |
9: 46,109,512 (GRCm39) |
F499L |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,728 (GRCm39) |
N387S |
probably benign |
Het |
| Slc6a12 |
C |
T |
6: 121,333,862 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,665,255 (GRCm39) |
T667A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,053,212 (GRCm39) |
I3378V |
probably benign |
Het |
| Thnsl1 |
C |
T |
2: 21,218,175 (GRCm39) |
T122I |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,075,889 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,914,909 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Tril |
A |
G |
6: 53,796,698 (GRCm39) |
F175L |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,613,140 (GRCm39) |
Y604C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,074 (GRCm39) |
M736L |
probably benign |
Het |
| Zscan10 |
A |
C |
17: 23,826,208 (GRCm39) |
E123D |
probably damaging |
Het |
|
| Other mutations in Dus1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Dus1l
|
APN |
11 |
120,684,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01338:Dus1l
|
APN |
11 |
120,683,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01538:Dus1l
|
APN |
11 |
120,683,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03220:Dus1l
|
APN |
11 |
120,683,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Dus1l
|
UTSW |
11 |
120,683,634 (GRCm39) |
unclassified |
probably benign |
|
|
R0076:Dus1l
|
UTSW |
11 |
120,683,634 (GRCm39) |
unclassified |
probably benign |
|
|
R0893:Dus1l
|
UTSW |
11 |
120,680,262 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1763:Dus1l
|
UTSW |
11 |
120,686,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3149:Dus1l
|
UTSW |
11 |
120,683,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4175:Dus1l
|
UTSW |
11 |
120,686,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4816:Dus1l
|
UTSW |
11 |
120,680,584 (GRCm39) |
unclassified |
probably benign |
|
|
R7056:Dus1l
|
UTSW |
11 |
120,682,120 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7808:Dus1l
|
UTSW |
11 |
120,680,262 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9323:Dus1l
|
UTSW |
11 |
120,684,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Dus1l
|
UTSW |
11 |
120,683,858 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGATCCAATGGAAAGC -3'
(R):5'- GTCTTCCCAAAACAACGTGG -3'
Sequencing Primer
(F):5'- CAGGTAAGTTGTCAGCTGGCC -3'
(R):5'- ACCAAGTCTGCTGAAGGGCTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation