Incidental Mutation 'IGL02664:Iws1'
| ID |
302672 |
| 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 # |
IGL02664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32203217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 31
(D31V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
| AlphaFold |
Q8C1D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025243
AA Change: D31V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: D31V
| 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: ENSMUST00000212104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212115
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212280
AA Change: D2V
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212675
AA Change: D31V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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 |
|---|
| Ablim2 |
A |
T |
5: 36,006,860 (GRCm39) |
D425V |
probably damaging |
Het |
| Afdn |
G |
T |
17: 14,072,728 (GRCm39) |
|
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,490,814 (GRCm39) |
D453G |
probably damaging |
Het |
| Ap2a2 |
C |
T |
7: 141,209,136 (GRCm39) |
T776I |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,084,891 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,188,047 (GRCm39) |
Y1513N |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,955,828 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,068,922 (GRCm39) |
M917L |
possibly damaging |
Het |
| Cmtm6 |
T |
C |
9: 114,575,613 (GRCm39) |
V174A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,443,535 (GRCm39) |
I448K |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,247 (GRCm39) |
I101V |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,671,388 (GRCm39) |
Y961H |
probably damaging |
Het |
| Dnaaf1 |
T |
G |
8: 120,309,260 (GRCm39) |
I116S |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,854,451 (GRCm39) |
I5F |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,732,538 (GRCm39) |
E691G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,922 (GRCm39) |
V384A |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,420,439 (GRCm39) |
M391T |
probably damaging |
Het |
| Gab2 |
T |
G |
7: 96,953,389 (GRCm39) |
S587R |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,809 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,426 (GRCm39) |
R1559* |
probably null |
Het |
| Inpp5f |
G |
A |
7: 128,265,738 (GRCm39) |
R161H |
probably damaging |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| Lce6a |
A |
T |
3: 92,527,607 (GRCm39) |
C67S |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,233,038 (GRCm39) |
I800V |
possibly damaging |
Het |
| Mis18bp1 |
A |
C |
12: 65,200,654 (GRCm39) |
Y407* |
probably null |
Het |
| Mllt3 |
A |
C |
4: 87,949,860 (GRCm39) |
W29G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,845,401 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
C |
T |
15: 55,483,039 (GRCm39) |
T372M |
probably benign |
Het |
| Nefm |
A |
T |
14: 68,357,664 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,335,424 (GRCm39) |
|
probably null |
Het |
| Nf1 |
G |
A |
11: 79,335,425 (GRCm39) |
|
probably null |
Het |
| Ntn1 |
T |
A |
11: 68,276,295 (GRCm39) |
I218F |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,648,109 (GRCm39) |
S613R |
possibly damaging |
Het |
| Or14a259 |
C |
T |
7: 86,012,811 (GRCm39) |
V245I |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,434,134 (GRCm39) |
D1411E |
probably damaging |
Het |
| Prl2b1 |
G |
T |
13: 27,569,225 (GRCm39) |
N124K |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,225 (GRCm39) |
I30M |
possibly damaging |
Het |
| Rnf215 |
G |
T |
11: 4,090,307 (GRCm39) |
V342L |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,459,655 (GRCm39) |
S17R |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,036,234 (GRCm39) |
I908N |
probably damaging |
Het |
| Trim54 |
A |
G |
5: 31,293,391 (GRCm39) |
N205S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,697,795 (GRCm39) |
T80I |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,344 (GRCm39) |
T685I |
possibly damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,414,063 (GRCm39) |
|
probably benign |
Het |
| Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
| Zfp40 |
G |
A |
17: 23,395,960 (GRCm39) |
S209F |
probably benign |
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 |
|
IGL03384:Iws1
|
APN |
18 |
32,226,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03394:Iws1
|
APN |
18 |
32,221,301 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation