Incidental Mutation 'R3774:Iws1'
| ID |
273525 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32200794-32237381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32213048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 159
(S159P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025243]
[ENSMUST00000212675]
|
| AlphaFold |
Q8C1D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025243
AA Change: S159P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: S159P
| 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 damaging
Transcript: ENSMUST00000212675
AA Change: S159P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213074
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
A |
G |
3: 153,638,734 (GRCm39) |
V213A |
probably benign |
Het |
| Ccndbp1 |
A |
G |
2: 120,839,581 (GRCm39) |
K26R |
possibly damaging |
Het |
| Chrna10 |
T |
C |
7: 101,763,535 (GRCm39) |
T87A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,232,963 (GRCm39) |
N360K |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,022 (GRCm39) |
I79N |
probably damaging |
Het |
| Dhdh |
T |
A |
7: 45,131,362 (GRCm39) |
D157V |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,094,377 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
T |
4: 148,241,051 (GRCm39) |
F179L |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,622,308 (GRCm39) |
E630G |
probably damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,502 (GRCm39) |
Y242C |
probably damaging |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Olfm5 |
T |
A |
7: 103,811,056 (GRCm39) |
R27S |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,566,113 (GRCm39) |
Y130F |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,721,312 (GRCm39) |
E81G |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,563,506 (GRCm39) |
L137S |
probably benign |
Het |
| Phlpp1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
1: 106,320,921 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,800,065 (GRCm39) |
K472E |
probably benign |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,134,262 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,382,589 (GRCm39) |
T264I |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,421,749 (GRCm39) |
Y1050C |
probably damaging |
Het |
| Septin8 |
T |
C |
11: 53,428,406 (GRCm39) |
V352A |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,104,783 (GRCm39) |
D12G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,965,339 (GRCm39) |
S1611R |
probably benign |
Het |
| Ttyh3 |
A |
G |
5: 140,634,489 (GRCm39) |
F32L |
probably damaging |
Het |
| Unkl |
T |
A |
17: 25,407,381 (GRCm39) |
|
probably null |
Het |
| Vwf |
T |
A |
6: 125,626,062 (GRCm39) |
|
probably null |
Het |
| Wdr11 |
T |
A |
7: 129,233,417 (GRCm39) |
|
probably null |
Het |
| Yeats2 |
A |
G |
16: 19,969,245 (GRCm39) |
D12G |
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 |
|
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'- TGACTCTGAGGAGCATGCAGAG -3'
(R):5'- GTCCTCACTTTCAGAGTCGC -3'
Sequencing Primer
(F):5'- TGAGGAGCATGCAGAGTCTCC -3'
(R):5'- AGTCGCTGACTCGGGGTTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation