Incidental Mutation 'R6428:Iws1'
ID 518406
Institutional Source Beutler Lab
Gene Symbol Iws1
Ensembl Gene ENSMUSG00000024384
Gene Name IWS1, SUPT6 interacting protein
Synonyms 1700069O15Rik
MMRRC Submission 044421-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32200794-32237381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32219343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 475 (D475G)
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: D475G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: D475G

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 damaging
Transcript: ENSMUST00000212675
AA Change: D475G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect silent
Transcript: ENSMUST00000213074
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Cts6 T G 13: 61,344,237 (GRCm39) N272H probably damaging Het
Daam2 C T 17: 49,776,404 (GRCm39) E828K probably damaging Het
Dhx9 C T 1: 153,332,324 (GRCm39) probably benign Het
Glb1l3 T C 9: 26,770,748 (GRCm39) N106S probably damaging Het
Hdlbp T C 1: 93,359,167 (GRCm39) D175G possibly damaging Het
Hectd4 A G 5: 121,488,508 (GRCm39) K3600E possibly damaging Het
Hspa13 A T 16: 75,554,874 (GRCm39) L404Q probably damaging Het
Klhdc10 T C 6: 30,439,855 (GRCm39) S13P probably damaging Het
Lepr C T 4: 101,637,295 (GRCm39) T728I probably damaging Het
Ncapd3 A G 9: 26,963,960 (GRCm39) probably null Het
Pasd1 CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC CATCTTTACCATCATGTCAAGTATCTTTACC X: 70,983,126 (GRCm39) probably benign Homo
Phb2 A G 6: 124,692,954 (GRCm39) D276G probably benign Het
Prrc2b A G 2: 32,116,508 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,136,100 (GRCm39) K604R probably damaging Het
Rp1l1 T A 14: 64,269,838 (GRCm39) M1808K possibly damaging Het
Setd3 T C 12: 108,079,597 (GRCm39) D302G probably damaging Het
Slc38a10 T A 11: 119,996,298 (GRCm39) Q933L probably benign Het
Slco1a1 A G 6: 141,871,416 (GRCm39) L250S probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r26 A G 6: 124,003,039 (GRCm39) I150V probably benign Het
Zfp318 C T 17: 46,710,262 (GRCm39) R662C probably damaging Het
Other mutations in Iws1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACAGTTGTACTTCTTTGACTCAAG -3'
(R):5'- TTGCCACACCATCAATTTGG -3'

Sequencing Primer
(F):5'- GTCCTGGAACTCGATCTGTAGAC -3'
(R):5'- CAATTTGGTTGAGGGCAGGAG -3'
Posted On 2018-05-24