Incidental Mutation 'IGL00432:Iws1'
ID5728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iws1
Ensembl Gene ENSMUSG00000024384
Gene NameIWS1, SUPT6 interacting protein
Synonyms1700069O15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL00432
Quality Score
Status
Chromosome18
Chromosomal Location32067741-32104328 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 32084688 bp
ZygosityHeterozygous
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]
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: 130,742,836 Q265L possibly damaging Het
Akr1c18 T A 13: 4,137,233 H168L probably damaging Het
Arid3b A G 9: 57,833,924 S80P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brd1 A C 15: 88,730,158 V178G probably benign Het
Brd2 C T 17: 34,114,423 R26Q probably damaging Het
Ddr2 T C 1: 169,997,958 M358V probably benign Het
Dnajc14 A G 10: 128,806,332 D41G probably damaging Het
Erap1 T G 13: 74,673,659 V711G probably benign Het
Gchfr A G 2: 119,169,748 R37G probably damaging Het
Gm20518 T A 16: 17,858,498 N136I probably damaging Het
Grm6 A T 11: 50,863,297 probably benign Het
Hydin T A 8: 110,601,252 V4797E probably damaging Het
Lin7c T C 2: 109,896,453 probably benign Het
Lrrc40 T A 3: 158,048,450 L196Q probably damaging Het
Lrrtm2 C T 18: 35,213,268 G327D probably benign Het
Masp1 C T 16: 23,513,851 C78Y probably damaging Het
Mmd C T 11: 90,264,534 R101W probably damaging Het
Myo1d A G 11: 80,601,740 Y730H probably benign Het
Pcdh15 A G 10: 74,291,082 probably benign Het
Pglyrp4 G A 3: 90,739,028 V290M probably damaging Het
Plxna2 G A 1: 194,644,096 V113I probably benign Het
Prkch T A 12: 73,702,589 probably benign Het
Rabgef1 G T 5: 130,208,724 E213* probably null Het
Rdh16f2 T A 10: 127,866,664 C37S probably damaging Het
Reln A G 5: 22,010,127 Y1109H probably damaging Het
Scn7a A T 2: 66,741,982 L215* probably null Het
Slc25a33 A T 4: 149,744,919 L261H probably damaging Het
Slc28a3 A T 13: 58,569,411 probably null Het
Slc38a6 T C 12: 73,351,803 I369T probably benign Het
Tgm4 A T 9: 123,062,382 probably benign Het
Tnr A G 1: 159,861,245 I426V probably benign Het
Vmn1r216 A G 13: 23,099,404 I86V probably benign Het
Wwc1 G A 11: 35,844,202 P949S possibly damaging Het
Zfp326 A T 5: 105,896,533 I286F probably damaging Het
Other mutations in Iws1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Iws1 APN 18 32083466 splice site probably benign
IGL01647:Iws1 APN 18 32097222 nonsense probably null
IGL02054:Iws1 APN 18 32090542 critical splice donor site probably null
IGL02189:Iws1 APN 18 32093125 missense probably damaging 1.00
IGL02664:Iws1 APN 18 32070164 missense possibly damaging 0.81
IGL03384:Iws1 APN 18 32093150 missense probably damaging 1.00
IGL03394:Iws1 APN 18 32088248 splice site probably benign
R0352:Iws1 UTSW 18 32084205 missense probably damaging 1.00
R1385:Iws1 UTSW 18 32090430 missense probably benign 0.03
R1486:Iws1 UTSW 18 32097256 missense probably damaging 1.00
R1526:Iws1 UTSW 18 32080125 missense probably benign 0.00
R1529:Iws1 UTSW 18 32080281 missense probably benign
R2094:Iws1 UTSW 18 32084666 missense probably damaging 1.00
R3774:Iws1 UTSW 18 32079995 missense probably damaging 1.00
R3907:Iws1 UTSW 18 32079920 missense possibly damaging 0.93
R4018:Iws1 UTSW 18 32070152 nonsense probably null
R4423:Iws1 UTSW 18 32083450 missense probably damaging 1.00
R4703:Iws1 UTSW 18 32080013 missense probably benign 0.19
R4979:Iws1 UTSW 18 32093267 unclassified probably benign
R5228:Iws1 UTSW 18 32088261 missense probably damaging 1.00
R5352:Iws1 UTSW 18 32083404 missense probably damaging 1.00
R6428:Iws1 UTSW 18 32086290 missense probably damaging 1.00
R6846:Iws1 UTSW 18 32086273 unclassified probably benign
R6892:Iws1 UTSW 18 32086274 missense probably damaging 0.99
R7163:Iws1 UTSW 18 32093224 missense possibly damaging 0.80
R7540:Iws1 UTSW 18 32080483 missense possibly damaging 0.94
R7605:Iws1 UTSW 18 32089487 missense probably benign 0.01
R7714:Iws1 UTSW 18 32090515 missense probably benign 0.00
Posted On2012-04-20