Incidental Mutation 'R6892:Iws1'
ID |
538135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iws1
|
Ensembl Gene |
ENSMUSG00000024384 |
Gene Name |
IWS1, SUPT6 interacting protein |
Synonyms |
1700069O15Rik |
MMRRC Submission |
044986-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R6892 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32219327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 470
(M470V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
AlphaFold |
Q8C1D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025243
AA Change: M470V
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025243 Gene: ENSMUSG00000024384 AA Change: M470V
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 |
probably benign
Transcript: ENSMUST00000212458
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212675
AA Change: M470V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930442H23Rik |
C |
A |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
4933421I07Rik |
T |
C |
7: 42,095,831 (GRCm39) |
Q139R |
probably benign |
Het |
A930002H24Rik |
C |
T |
17: 64,170,759 (GRCm39) |
V10M |
unknown |
Het |
Acvr2a |
T |
A |
2: 48,787,087 (GRCm39) |
L394Q |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,865,505 (GRCm39) |
Y830H |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,184,922 (GRCm39) |
I914F |
possibly damaging |
Het |
Bltp3b |
G |
A |
10: 89,640,985 (GRCm39) |
V719I |
probably benign |
Het |
Cab39 |
A |
G |
1: 85,776,098 (GRCm39) |
D265G |
probably damaging |
Het |
Capn5 |
A |
T |
7: 97,785,148 (GRCm39) |
W109R |
probably damaging |
Het |
Cdk18 |
G |
T |
1: 132,049,848 (GRCm39) |
T44K |
probably benign |
Het |
Cdt1 |
T |
A |
8: 123,296,951 (GRCm39) |
N248K |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,583,628 (GRCm39) |
R248L |
probably benign |
Het |
Cpt1a |
G |
A |
19: 3,421,660 (GRCm39) |
V481M |
probably benign |
Het |
Cyp3a11 |
G |
A |
5: 145,797,258 (GRCm39) |
L374F |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,240,443 (GRCm39) |
N64D |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 50,053,969 (GRCm39) |
R2525Q |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,595,128 (GRCm39) |
V744M |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,605,335 (GRCm39) |
E2391K |
probably benign |
Het |
Ezh1 |
A |
T |
11: 101,090,187 (GRCm39) |
Y522* |
probably null |
Het |
Fzd3 |
G |
C |
14: 65,447,330 (GRCm39) |
A533G |
possibly damaging |
Het |
Gm14403 |
T |
G |
2: 177,201,040 (GRCm39) |
C329G |
probably damaging |
Het |
Gm17067 |
A |
C |
7: 42,360,099 (GRCm39) |
|
probably null |
Het |
Gm38119 |
A |
G |
3: 92,645,529 (GRCm39) |
C22R |
unknown |
Het |
Grep1 |
A |
G |
17: 23,931,328 (GRCm39) |
L193P |
probably damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,455,100 (GRCm39) |
S588P |
probably benign |
Het |
Ift140 |
A |
G |
17: 25,239,520 (GRCm39) |
E59G |
possibly damaging |
Het |
Ints1 |
A |
T |
5: 139,753,583 (GRCm39) |
M683K |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,159,831 (GRCm39) |
R46G |
probably benign |
Het |
Nhsl1 |
C |
T |
10: 18,400,091 (GRCm39) |
T439I |
probably damaging |
Het |
Or10a49 |
A |
G |
7: 108,467,722 (GRCm39) |
L213P |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,898 (GRCm39) |
S1108N |
possibly damaging |
Het |
Pgm1 |
A |
G |
4: 99,786,905 (GRCm39) |
E48G |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,739 (GRCm39) |
T1458I |
probably damaging |
Het |
Polr1a |
A |
T |
6: 71,941,696 (GRCm39) |
D1068V |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,411,865 (GRCm39) |
T1834A |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,589,852 (GRCm39) |
|
probably null |
Het |
Rgl1 |
A |
T |
1: 152,415,691 (GRCm39) |
D409E |
probably benign |
Het |
Rgsl1 |
G |
T |
1: 153,697,245 (GRCm39) |
Y558* |
probably null |
Het |
Rock1 |
C |
T |
18: 10,122,612 (GRCm39) |
R403H |
probably benign |
Het |
Scn11a |
T |
A |
9: 119,636,035 (GRCm39) |
D304V |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,032,053 (GRCm39) |
I1043F |
probably benign |
Het |
Sgms2 |
A |
G |
3: 131,135,803 (GRCm39) |
Y24H |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,755,495 (GRCm39) |
I372T |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,092,187 (GRCm39) |
M526T |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 37,008,991 (GRCm39) |
S683T |
possibly damaging |
Het |
Syk |
A |
T |
13: 52,786,934 (GRCm39) |
R332S |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,009,302 (GRCm39) |
V2401E |
probably damaging |
Het |
Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,814,864 (GRCm39) |
K378E |
possibly damaging |
Het |
Tcte1 |
A |
G |
17: 45,844,083 (GRCm39) |
T20A |
probably benign |
Het |
Tor1aip2 |
A |
T |
1: 155,940,927 (GRCm39) |
Y411F |
possibly damaging |
Het |
Trim43c |
T |
A |
9: 88,726,977 (GRCm39) |
M267K |
probably benign |
Het |
Ubr2 |
T |
G |
17: 47,245,034 (GRCm39) |
Y1664S |
probably damaging |
Het |
Vmn1r41 |
C |
A |
6: 89,724,163 (GRCm39) |
Q235K |
possibly damaging |
Het |
Wdr17 |
T |
C |
8: 55,126,631 (GRCm39) |
T401A |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,025 (GRCm39) |
L469P |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGGAAGTTATGCACATATGAGC -3'
(R):5'- GGTAACCTAGAAGAGCTTACCTC -3'
Sequencing Primer
(F):5'- TGGTGGCTCACAACCATATG -3'
(R):5'- TAGAAGAGCTTACCTCAGCAGCTTC -3'
|
Posted On |
2018-11-06 |