Incidental Mutation 'IGL01107:D17Wsu92e'
| ID |
53069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D17Wsu92e
|
| Ensembl Gene |
ENSMUSG00000056692 |
| Gene Name |
DNA segment, Chr 17, Wayne State University 92, expressed |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
27751232-27820558 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 27786069 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075076]
[ENSMUST00000114859]
[ENSMUST00000114863]
|
| AlphaFold |
Q3TT38 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075076
|
| SMART Domains |
Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
68 |
1.6e-13 |
PFAM |
|
Pfam:N_BRCA1_IG
|
80 |
179 |
1.6e-37 |
PFAM |
|
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114859
|
| SMART Domains |
Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
69 |
5.1e-15 |
PFAM |
|
PDB:4OLE|D
|
74 |
180 |
2e-9 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114863
|
| SMART Domains |
Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
69 |
2.2e-14 |
PFAM |
|
PDB:4OLE|D
|
74 |
180 |
8e-9 |
PDB |
|
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121414
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,797,936 (GRCm38) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,194,468 (GRCm38) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,711,838 (GRCm38) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,280,244 (GRCm38) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,717,177 (GRCm38) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,919,183 (GRCm38) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,163,037 (GRCm38) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,989,501 (GRCm38) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,952,370 (GRCm38) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 105,304,177 (GRCm38) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,938,658 (GRCm38) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 45,093,328 (GRCm38) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,331,524 (GRCm38) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,575,914 (GRCm38) |
L431F |
possibly damaging |
Het |
| Krt86 |
T |
A |
15: 101,475,425 (GRCm38) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,494,828 (GRCm38) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,099,931 (GRCm38) |
T79A |
probably benign |
Het |
| Pramef12 |
A |
T |
4: 144,393,094 (GRCm38) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 17,204,925 (GRCm38) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,711 (GRCm38) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,383,245 (GRCm38) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,111,303 (GRCm38) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,957,328 (GRCm38) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 72,731,105 (GRCm38) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,221,937 (GRCm38) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,687,111 (GRCm38) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,829,581 (GRCm38) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 153,002,889 (GRCm38) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 46,209,901 (GRCm38) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,521,356 (GRCm38) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 56,006,007 (GRCm38) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 57,865,589 (GRCm38) |
E101V |
probably damaging |
Het |
|
| Other mutations in D17Wsu92e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:D17Wsu92e
|
APN |
17 |
27,767,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01805:D17Wsu92e
|
APN |
17 |
27,767,906 (GRCm38) |
splice site |
probably benign |
|
|
detroit
|
UTSW |
17 |
27,794,070 (GRCm38) |
splice site |
probably null |
|
|
michigander
|
UTSW |
17 |
27,767,986 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0423:D17Wsu92e
|
UTSW |
17 |
27,786,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0833:D17Wsu92e
|
UTSW |
17 |
27,786,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0836:D17Wsu92e
|
UTSW |
17 |
27,786,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1055:D17Wsu92e
|
UTSW |
17 |
27,767,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1251:D17Wsu92e
|
UTSW |
17 |
27,786,070 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1646:D17Wsu92e
|
UTSW |
17 |
27,793,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4022:D17Wsu92e
|
UTSW |
17 |
27,786,262 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4604:D17Wsu92e
|
UTSW |
17 |
27,820,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5360:D17Wsu92e
|
UTSW |
17 |
27,794,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6210:D17Wsu92e
|
UTSW |
17 |
27,767,986 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7201:D17Wsu92e
|
UTSW |
17 |
27,794,070 (GRCm38) |
splice site |
probably null |
|
|
R7994:D17Wsu92e
|
UTSW |
17 |
27,767,943 (GRCm38) |
missense |
probably benign |
|
|
R8057:D17Wsu92e
|
UTSW |
17 |
27,767,889 (GRCm38) |
missense |
unknown |
|
|
R8767:D17Wsu92e
|
UTSW |
17 |
27,768,069 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9269:D17Wsu92e
|
UTSW |
17 |
27,786,075 (GRCm38) |
nonsense |
probably null |
|
|
R9629:D17Wsu92e
|
UTSW |
17 |
27,793,939 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation