Incidental Mutation 'IGL01805:D17Wsu92e'
| ID |
155662 |
| 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 # |
IGL01805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
27751232-27820558 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 27767906 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 |
unknown
Transcript: ENSMUST00000075076
AA Change: G282D
|
| SMART Domains |
Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: G282D
| 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 benign
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 benign
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,925,518 (GRCm38) |
D17G |
possibly damaging |
Het |
| Adam28 |
G |
T |
14: 68,642,091 (GRCm38) |
S169R |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,081,513 (GRCm38) |
M855T |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,318,218 (GRCm38) |
N2688K |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,492,602 (GRCm38) |
|
probably benign |
Het |
| Bpifa6 |
A |
G |
2: 153,984,912 (GRCm38) |
T66A |
probably benign |
Het |
| C1qtnf1 |
T |
A |
11: 118,448,167 (GRCm38) |
L221Q |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,129,229 (GRCm38) |
|
probably benign |
Het |
| Ccl1 |
C |
A |
11: 82,178,132 (GRCm38) |
M26I |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,783,921 (GRCm38) |
F2123I |
probably damaging |
Het |
| Dpcr1 |
T |
A |
17: 35,637,643 (GRCm38) |
T355S |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,113,861 (GRCm38) |
|
probably null |
Het |
| Fstl4 |
C |
A |
11: 53,186,357 (GRCm38) |
A647E |
probably damaging |
Het |
| Hmgb4 |
G |
T |
4: 128,260,222 (GRCm38) |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,565,297 (GRCm38) |
|
probably benign |
Het |
| Kcna4 |
G |
T |
2: 107,296,498 (GRCm38) |
V526L |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 12,842,230 (GRCm38) |
Y102C |
probably damaging |
Het |
| Mul1 |
C |
T |
4: 138,439,663 (GRCm38) |
P343S |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,132,596 (GRCm38) |
S652G |
probably damaging |
Het |
| Olfr972 |
T |
C |
9: 39,873,779 (GRCm38) |
F168S |
probably damaging |
Het |
| Pjvk |
A |
T |
2: 76,657,514 (GRCm38) |
N250I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,483,093 (GRCm38) |
I461T |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,229,838 (GRCm38) |
|
probably null |
Het |
| Ralb |
T |
C |
1: 119,475,995 (GRCm38) |
E81G |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,608,836 (GRCm38) |
T261A |
possibly damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,811,187 (GRCm38) |
V574M |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 147,028,143 (GRCm38) |
I251V |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,912,264 (GRCm38) |
|
probably benign |
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 |
|
IGL01107:D17Wsu92e
|
APN |
17 |
27,786,069 (GRCm38) |
critical splice donor site |
probably null |
|
|
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 |
2014-02-04 |
Incidental Mutation