Incidental Mutation 'R2094:Iws1'
ID |
232004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iws1
|
Ensembl Gene |
ENSMUSG00000024384 |
Gene Name |
IWS1, SUPT6 interacting protein |
Synonyms |
1700069O15Rik |
MMRRC Submission |
040098-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R2094 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32217719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 441
(E441G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
AlphaFold |
Q8C1D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025243
AA Change: E441G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025243 Gene: ENSMUSG00000024384 AA Change: E441G
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 damaging
Transcript: ENSMUST00000212675
AA Change: E441G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213074
|
Meta Mutation Damage Score |
0.1247 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,154 (GRCm39) |
I169V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,856 (GRCm39) |
S144P |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,179 (GRCm39) |
M92V |
probably benign |
Het |
Atg5 |
A |
G |
10: 44,195,544 (GRCm39) |
I189M |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,684,277 (GRCm39) |
T646A |
probably damaging |
Het |
Atp1a2 |
G |
A |
1: 172,115,000 (GRCm39) |
R262W |
probably damaging |
Het |
Atp6v1g2 |
A |
G |
17: 35,455,785 (GRCm39) |
K16E |
probably damaging |
Het |
Bex6 |
G |
A |
16: 32,005,278 (GRCm39) |
E29K |
possibly damaging |
Het |
Casd1 |
A |
G |
6: 4,608,705 (GRCm39) |
Y101C |
probably damaging |
Het |
Ccdc168 |
A |
C |
1: 44,098,890 (GRCm39) |
I736S |
probably benign |
Het |
Cdx1 |
T |
C |
18: 61,168,984 (GRCm39) |
D70G |
possibly damaging |
Het |
Cebpz |
T |
C |
17: 79,242,983 (GRCm39) |
T224A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,702,164 (GRCm39) |
V319A |
possibly damaging |
Het |
Chrna2 |
C |
T |
14: 66,386,912 (GRCm39) |
R353W |
possibly damaging |
Het |
Chst5 |
A |
T |
8: 112,617,176 (GRCm39) |
V148E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,771 (GRCm39) |
W162R |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,129,992 (GRCm39) |
Q1710L |
probably damaging |
Het |
Ddb1 |
A |
C |
19: 10,590,300 (GRCm39) |
M276L |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,621,712 (GRCm39) |
R455C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,148,735 (GRCm39) |
V903A |
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,542 (GRCm39) |
V240A |
possibly damaging |
Het |
Erich1 |
T |
G |
8: 14,140,527 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
C |
19: 29,617,328 (GRCm39) |
S227A |
probably benign |
Het |
Etv1 |
C |
A |
12: 38,885,115 (GRCm39) |
P143Q |
probably null |
Het |
Gimap8 |
A |
T |
6: 48,627,502 (GRCm39) |
I159F |
probably benign |
Het |
Gpr4 |
G |
A |
7: 18,956,503 (GRCm39) |
V142M |
possibly damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,020,639 (GRCm39) |
C86Y |
probably benign |
Het |
Ifngr2 |
T |
G |
16: 91,358,667 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
T |
3: 87,710,488 (GRCm39) |
N398I |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,893 (GRCm39) |
S32P |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,414,785 (GRCm39) |
K732* |
probably null |
Het |
Mprip |
T |
A |
11: 59,640,334 (GRCm39) |
|
probably benign |
Het |
Mrgprb8 |
T |
C |
7: 48,038,953 (GRCm39) |
V208A |
probably benign |
Het |
Msc |
G |
C |
1: 14,825,908 (GRCm39) |
P22R |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Or4k15b |
A |
T |
14: 50,272,171 (GRCm39) |
S230T |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,123,560 (GRCm39) |
H71Q |
probably benign |
Het |
Pkp2 |
T |
A |
16: 16,064,831 (GRCm39) |
W452R |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,072,582 (GRCm39) |
T20I |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,810,136 (GRCm39) |
S279P |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,557,831 (GRCm39) |
D1336V |
unknown |
Het |
Serpina3m |
G |
T |
12: 104,355,529 (GRCm39) |
K65N |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Slc10a1 |
A |
G |
12: 81,002,822 (GRCm39) |
V272A |
possibly damaging |
Het |
Slc25a29 |
A |
T |
12: 108,793,358 (GRCm39) |
N73K |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,031,403 (GRCm39) |
|
probably benign |
Het |
Stk11ip |
A |
G |
1: 75,502,165 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,697,210 (GRCm39) |
K767R |
possibly damaging |
Het |
Tmem82 |
T |
C |
4: 141,343,598 (GRCm39) |
K224R |
probably benign |
Het |
Tmprss11g |
A |
G |
5: 86,647,415 (GRCm39) |
L41S |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,248,150 (GRCm39) |
N182S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,660,432 (GRCm39) |
T7430A |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,650,390 (GRCm39) |
T259A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCATGAACGTGCTCATACAGG -3'
(R):5'- ACTCTTCCCAATCTGGAGCC -3'
Sequencing Primer
(F):5'- CGTGCTCATACAGGTATGGAC -3'
(R):5'- TGGAGCCCCAGATGAGAAAC -3'
|
Posted On |
2014-09-18 |