Incidental Mutation 'IGL00432:Iws1'
| ID |
5728 |
| 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: 0.961)
|
| Stock # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32217741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 448
(N448K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
| AlphaFold |
Q8C1D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025243
AA Change: N448K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: N448K
| 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
AA Change: N448K
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213074
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in Iws1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation