Incidental Mutation 'IGL01338:Dus1l'
ID |
74693 |
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 # |
IGL01338
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120680027-120687229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120683918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 177
(R177C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132516
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026151]
[ENSMUST00000100134]
[ENSMUST00000106133]
[ENSMUST00000106135]
[ENSMUST00000116305]
[ENSMUST00000167023]
[ENSMUST00000143139]
[ENSMUST00000208737]
[ENSMUST00000129955]
[ENSMUST00000153678]
[ENSMUST00000172809]
|
AlphaFold |
Q8C2P3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026151
AA Change: R177C
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026151 Gene: ENSMUSG00000025155 AA Change: R177C
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 |
possibly damaging
Transcript: ENSMUST00000106133
AA Change: R177C
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101739 Gene: ENSMUSG00000025155 AA Change: R177C
Domain | Start | End | E-Value | Type |
Pfam:Dus
|
20 |
314 |
8.5e-76 |
PFAM |
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106135
AA Change: R177C
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101741 Gene: ENSMUSG00000025155 AA Change: R177C
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 |
possibly damaging
Transcript: ENSMUST00000167023
AA Change: R177C
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132516 Gene: ENSMUSG00000025155 AA Change: R177C
Domain | Start | End | E-Value | Type |
Pfam:Dus
|
20 |
322 |
1.6e-75 |
PFAM |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143139
AA Change: R166C
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118773 Gene: ENSMUSG00000025155 AA Change: R166C
Domain | Start | End | E-Value | Type |
Pfam:Dus
|
20 |
194 |
1.6e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208737
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142418
|
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 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
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 |
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 |
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 |
2013-10-07 |