Incidental Mutation 'R9351:Iws1'
| ID |
708097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iws1
|
| Ensembl Gene |
ENSMUSG00000024384 |
| Gene Name |
IWS1, SUPT6 interacting protein |
| Synonyms |
1700069O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R9351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32213213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 214
(E214K)
|
| 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: E214K
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: E214K
| 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 |
probably benign
Transcript: ENSMUST00000212280
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212675
AA Change: E214K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213074
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
| Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
| Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
| Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
| Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
| Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
| Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,750,133 (GRCm39) |
V862A |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
| Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
| Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Lars2 |
A |
G |
9: 123,265,366 (GRCm39) |
Q474R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,040,473 (GRCm39) |
F472S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,401,223 (GRCm39) |
S590P |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
| Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
| Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
| Psd3 |
C |
A |
8: 68,413,301 (GRCm39) |
A410S |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
| Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
| Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
| Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
| Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
| Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
| Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAGCTGAGGACACTCTG -3'
(R):5'- ACTGTCATCTGAGTCTGGCTTC -3'
Sequencing Primer
(F):5'- TGAGGACACTCTGCAGCCTC -3'
(R):5'- CTCTTTGTGTCTGGAGGCATCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation