Incidental Mutation 'IGL03220:Dus1l'
| ID |
413621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dus1l
|
| Ensembl Gene |
ENSMUSG00000025155 |
| Gene Name |
dihydrouridine synthase 1 like |
| Synonyms |
1110032N12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL03220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120680027-120687229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120683185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 280
(H280N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026151]
[ENSMUST00000100134]
[ENSMUST00000106133]
[ENSMUST00000106135]
[ENSMUST00000116305]
[ENSMUST00000129955]
[ENSMUST00000167023]
[ENSMUST00000208737]
[ENSMUST00000143139]
[ENSMUST00000172809]
[ENSMUST00000153678]
|
| AlphaFold |
Q8C2P3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026151
AA Change: H280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: H280N
| 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 damaging
Transcript: ENSMUST00000106133
AA Change: H280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: H280N
| 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 damaging
Transcript: ENSMUST00000106135
AA Change: H280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: H280N
| 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 |
probably damaging
Transcript: ENSMUST00000167023
AA Change: H280N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: H280N
| 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: ENSMUST00000144519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208737
|
| 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 |
|
| 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: ENSMUST00000153678
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
A |
1: 179,615,767 (GRCm39) |
E368D |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,259,653 (GRCm39) |
H271L |
probably damaging |
Het |
| Bsnd |
G |
T |
4: 106,343,962 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,653 (GRCm39) |
I887N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,070 (GRCm39) |
F155L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,606,765 (GRCm39) |
S553P |
probably damaging |
Het |
| Crnn |
C |
T |
3: 93,056,674 (GRCm39) |
H487Y |
possibly damaging |
Het |
| Ddi2 |
T |
C |
4: 141,435,767 (GRCm39) |
N90S |
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,707 (GRCm39) |
I285L |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,546,546 (GRCm39) |
S405P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,069,720 (GRCm39) |
F1560L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,710,251 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
A |
1: 34,225,076 (GRCm39) |
Q1161K |
probably damaging |
Het |
| Gm21985 |
C |
A |
2: 112,187,829 (GRCm39) |
H964N |
possibly damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,886 (GRCm39) |
V129E |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,236,633 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,403,870 (GRCm39) |
Y86* |
probably null |
Het |
| Kif26b |
T |
G |
1: 178,692,434 (GRCm39) |
C458W |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,252,020 (GRCm39) |
V220I |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,707,521 (GRCm39) |
N7S |
possibly damaging |
Het |
| Or5ar1 |
G |
T |
2: 85,671,326 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Or5b12b |
C |
T |
19: 12,861,815 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or5b24 |
A |
C |
19: 12,912,858 (GRCm39) |
Y252S |
probably damaging |
Het |
| Prkg1 |
A |
T |
19: 30,546,637 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,274,672 (GRCm39) |
E383G |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,644,882 (GRCm39) |
V1153E |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,759,280 (GRCm39) |
I3330N |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,873,290 (GRCm39) |
D252G |
probably null |
Het |
| Shcbp1l |
T |
C |
1: 153,308,911 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
G |
A |
4: 59,082,378 (GRCm39) |
Q417* |
probably null |
Het |
| Skida1 |
T |
C |
2: 18,052,972 (GRCm39) |
D60G |
probably damaging |
Het |
| Slc9a5 |
T |
A |
8: 106,094,652 (GRCm39) |
C748S |
probably benign |
Het |
| Smc4 |
A |
T |
3: 68,916,875 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,885,286 (GRCm39) |
S247P |
possibly damaging |
Het |
| Sptb |
T |
C |
12: 76,659,684 (GRCm39) |
D1072G |
probably benign |
Het |
| St7l |
A |
T |
3: 104,782,139 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,316,692 (GRCm39) |
|
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,712 (GRCm39) |
Y153C |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,974,402 (GRCm39) |
N944K |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,544,097 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,661 (GRCm39) |
S85R |
probably benign |
Het |
| Zp2 |
A |
C |
7: 119,736,450 (GRCm39) |
L331R |
possibly 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 |
|
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 |
|
R4753:Dus1l
|
UTSW |
11 |
120,682,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation