Incidental Mutation 'IGL03384:Iws1'
ID420804
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: 0.952) question?
Stock #IGL03384
Quality Score
Status
Chromosome18
Chromosomal Location32067741-32104328 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 32093150 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 697 (A697D)
Ref Sequence ENSEMBL: ENSMUSP00000148514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025243] [ENSMUST00000212675]
Predicted Effect probably damaging
Transcript: ENSMUST00000025243
AA Change: A697D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: A697D

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 unknown
Transcript: ENSMUST00000212458
AA Change: A148D
Predicted Effect probably damaging
Transcript: ENSMUST00000212675
AA Change: A697D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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
4933427D14Rik A G 11: 72,195,847 I246T possibly damaging Het
Ablim2 C T 5: 35,874,872 R614C probably damaging Het
B230118H07Rik G T 2: 101,585,263 T115N probably benign Het
B4galt7 T C 13: 55,609,289 L265P probably damaging Het
Col4a4 C T 1: 82,484,438 C1072Y probably benign Het
Cxcr2 T C 1: 74,158,791 V148A probably damaging Het
Dnah14 G A 1: 181,745,949 V2942M probably benign Het
Fam124b T A 1: 80,199,956 H442L probably benign Het
Haus6 T C 4: 86,583,525 H703R probably benign Het
Ice1 T C 13: 70,603,249 T1573A probably benign Het
Ighv1-31 A G 12: 114,829,473 F48L probably benign Het
Jhy T A 9: 40,960,932 N94Y probably benign Het
Kank2 C T 9: 21,774,578 V667M possibly damaging Het
Mcam G A 9: 44,140,512 probably benign Het
Muc5ac A T 7: 141,812,403 I2099F possibly damaging Het
Myo7a T C 7: 98,093,593 I410V probably damaging Het
Nub1 A T 5: 24,697,427 probably benign Het
Nub1 A T 5: 24,697,426 probably null Het
Olfr980 T C 9: 40,006,470 T160A probably benign Het
Panx2 C T 15: 89,068,119 A271V possibly damaging Het
Papss1 T A 3: 131,579,352 H13Q probably damaging Het
Pkd1 A G 17: 24,565,897 T438A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Ptchd4 T A 17: 42,502,590 C461S probably damaging Het
Rapgef2 A G 3: 79,083,546 F985S probably damaging Het
Rbm25 T C 12: 83,659,523 I214T probably benign Het
Sgpp1 T C 12: 75,716,106 probably benign Het
Slc22a20 A T 19: 5,980,374 C343* probably null Het
Slc22a22 T C 15: 57,254,216 I310V probably benign Het
Slc6a13 T C 6: 121,332,391 F287S probably damaging Het
Usp30 A G 5: 114,121,574 D447G probably damaging Het
Vmn1r78 A T 7: 12,153,209 Y249F possibly damaging Het
Vmn2r106 T C 17: 20,268,143 T665A probably damaging Het
Vps37b A G 5: 124,007,607 probably null Het
Wfdc1 T A 8: 119,686,277 N198K probably benign Het
Other mutations in Iws1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Iws1 APN 18 32084688 missense probably benign 0.07
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
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 On2016-08-02