Incidental Mutation 'IGL03394:Iws1'
ID |
421202 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iws1
|
Ensembl Gene |
ENSMUSG00000024384 |
Gene Name |
IWS1, SUPT6 interacting protein |
Synonyms |
1700069O15Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL03394
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 32221301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
AlphaFold |
Q8C1D8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025243
|
SMART Domains |
Protein: ENSMUSP00000025243 Gene: ENSMUSG00000024384
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
low complexity region
|
73 |
86 |
N/A |
INTRINSIC |
low complexity region
|
92 |
109 |
N/A |
INTRINSIC |
internal_repeat_2
|
112 |
179 |
9.21e-13 |
PROSPERO |
internal_repeat_1
|
118 |
184 |
9.82e-20 |
PROSPERO |
internal_repeat_1
|
183 |
296 |
9.82e-20 |
PROSPERO |
internal_repeat_2
|
229 |
316 |
9.21e-13 |
PROSPERO |
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
low complexity region
|
357 |
373 |
N/A |
INTRINSIC |
low complexity region
|
384 |
404 |
N/A |
INTRINSIC |
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
low complexity region
|
528 |
540 |
N/A |
INTRINSIC |
Pfam:Med26
|
584 |
636 |
4.8e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212115
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212280
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212675
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213074
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,635,277 (GRCm39) |
L242P |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,217,379 (GRCm39) |
I139V |
probably benign |
Het |
Ahr |
G |
T |
12: 35,553,751 (GRCm39) |
Y789* |
probably null |
Het |
Ankrd27 |
C |
A |
7: 35,306,523 (GRCm39) |
|
probably null |
Het |
Ano1 |
T |
C |
7: 144,149,176 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
T |
A |
2: 126,905,317 (GRCm39) |
M996K |
probably benign |
Het |
Bglap |
T |
C |
3: 88,291,312 (GRCm39) |
K42E |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,216,779 (GRCm39) |
S220R |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,548,105 (GRCm39) |
N50S |
probably benign |
Het |
Csnk2a1-ps3 |
A |
T |
1: 156,352,792 (GRCm39) |
Q331L |
probably benign |
Het |
Cyp20a1 |
T |
G |
1: 60,405,840 (GRCm39) |
D211E |
probably damaging |
Het |
Dctn1 |
G |
A |
6: 83,168,266 (GRCm39) |
V408I |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,588,020 (GRCm39) |
I551T |
probably benign |
Het |
Fat4 |
C |
T |
3: 38,946,168 (GRCm39) |
T1687M |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,513 (GRCm39) |
C4490S |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,815,336 (GRCm39) |
I1351N |
probably damaging |
Het |
Igkv2-116 |
T |
C |
6: 68,129,327 (GRCm39) |
|
noncoding transcript |
Het |
Mlh1 |
A |
T |
9: 111,097,311 (GRCm39) |
I61N |
probably damaging |
Het |
Mtmr7 |
C |
T |
8: 41,061,972 (GRCm39) |
V38M |
probably damaging |
Het |
Myh7 |
G |
T |
14: 55,212,818 (GRCm39) |
A1409D |
probably damaging |
Het |
Myt1 |
A |
T |
2: 181,439,638 (GRCm39) |
I387F |
probably damaging |
Het |
Nars2 |
A |
G |
7: 96,689,220 (GRCm39) |
N381D |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,165,765 (GRCm39) |
|
probably benign |
Het |
Nup107 |
A |
G |
10: 117,617,933 (GRCm39) |
S162P |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,920,576 (GRCm39) |
F3S |
probably benign |
Het |
Or8b1b |
A |
G |
9: 38,375,517 (GRCm39) |
Y60C |
probably damaging |
Het |
Oxgr1 |
T |
C |
14: 120,260,022 (GRCm39) |
M62V |
possibly damaging |
Het |
Pcgf1 |
A |
G |
6: 83,056,121 (GRCm39) |
Y75C |
probably damaging |
Het |
Ppp3cc |
C |
A |
14: 70,462,477 (GRCm39) |
E396* |
probably null |
Het |
Ptx4 |
T |
A |
17: 25,343,649 (GRCm39) |
C300S |
probably damaging |
Het |
Rassf4 |
C |
T |
6: 116,618,708 (GRCm39) |
V192I |
probably damaging |
Het |
Rundc3b |
T |
C |
5: 8,598,261 (GRCm39) |
T203A |
possibly damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,603 (GRCm39) |
D306G |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,398 (GRCm39) |
E313G |
possibly damaging |
Het |
Snx5 |
G |
A |
2: 144,095,674 (GRCm39) |
A329V |
probably damaging |
Het |
Stx1b |
T |
C |
7: 127,407,056 (GRCm39) |
D213G |
probably damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
Trim50 |
A |
T |
5: 135,392,807 (GRCm39) |
I241F |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,580,760 (GRCm39) |
H23378Y |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,403,939 (GRCm39) |
M18L |
probably benign |
Het |
Vmn1r226 |
A |
G |
17: 20,908,446 (GRCm39) |
N226S |
probably benign |
Het |
Vmn2r14 |
T |
A |
5: 109,367,702 (GRCm39) |
Q430L |
probably null |
Het |
Xirp2 |
T |
A |
2: 67,345,538 (GRCm39) |
V2593D |
probably damaging |
Het |
Zfp169 |
A |
T |
13: 48,643,400 (GRCm39) |
F576I |
possibly damaging |
Het |
Zfp667 |
T |
C |
7: 6,292,438 (GRCm39) |
|
probably null |
Het |
Zzef1 |
A |
G |
11: 72,777,601 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Iws1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00432:Iws1
|
APN |
18 |
32,217,741 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01432:Iws1
|
APN |
18 |
32,216,519 (GRCm39) |
splice site |
probably benign |
|
IGL01647:Iws1
|
APN |
18 |
32,230,275 (GRCm39) |
nonsense |
probably null |
|
IGL02054:Iws1
|
APN |
18 |
32,223,595 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02189:Iws1
|
APN |
18 |
32,226,178 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02664:Iws1
|
APN |
18 |
32,203,217 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03384:Iws1
|
APN |
18 |
32,226,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R0352:Iws1
|
UTSW |
18 |
32,217,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Iws1
|
UTSW |
18 |
32,223,483 (GRCm39) |
missense |
probably benign |
0.03 |
R1486:Iws1
|
UTSW |
18 |
32,230,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1526:Iws1
|
UTSW |
18 |
32,213,178 (GRCm39) |
missense |
probably benign |
0.00 |
R1529:Iws1
|
UTSW |
18 |
32,213,334 (GRCm39) |
missense |
probably benign |
|
R2094:Iws1
|
UTSW |
18 |
32,217,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R3774:Iws1
|
UTSW |
18 |
32,213,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Iws1
|
UTSW |
18 |
32,212,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4018:Iws1
|
UTSW |
18 |
32,203,205 (GRCm39) |
nonsense |
probably null |
|
R4423:Iws1
|
UTSW |
18 |
32,216,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Iws1
|
UTSW |
18 |
32,213,066 (GRCm39) |
missense |
probably benign |
0.19 |
R4979:Iws1
|
UTSW |
18 |
32,226,320 (GRCm39) |
unclassified |
probably benign |
|
R5228:Iws1
|
UTSW |
18 |
32,221,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R5352:Iws1
|
UTSW |
18 |
32,216,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6428:Iws1
|
UTSW |
18 |
32,219,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6846:Iws1
|
UTSW |
18 |
32,219,326 (GRCm39) |
unclassified |
probably benign |
|
R6892:Iws1
|
UTSW |
18 |
32,219,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R7163:Iws1
|
UTSW |
18 |
32,226,277 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7540:Iws1
|
UTSW |
18 |
32,213,536 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7605:Iws1
|
UTSW |
18 |
32,222,540 (GRCm39) |
missense |
probably benign |
0.01 |
R7714:Iws1
|
UTSW |
18 |
32,223,568 (GRCm39) |
missense |
probably benign |
0.00 |
R8218:Iws1
|
UTSW |
18 |
32,226,688 (GRCm39) |
missense |
probably benign |
0.00 |
R8229:Iws1
|
UTSW |
18 |
32,217,740 (GRCm39) |
missense |
probably benign |
|
R8728:Iws1
|
UTSW |
18 |
32,216,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Iws1
|
UTSW |
18 |
32,226,645 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9096:Iws1
|
UTSW |
18 |
32,216,373 (GRCm39) |
missense |
probably benign |
|
R9187:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9188:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9189:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9190:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9284:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9302:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9351:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9352:Iws1
|
UTSW |
18 |
32,213,213 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9572:Iws1
|
UTSW |
18 |
32,203,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9703:Iws1
|
UTSW |
18 |
32,212,738 (GRCm39) |
missense |
probably damaging |
0.99 |
R9758:Iws1
|
UTSW |
18 |
32,216,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |