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: 0.957) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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