Incidental Mutation 'R9189:Iws1'
ID 697650
Institutional Source Beutler Lab
Gene Symbol Iws1
Ensembl Gene ENSMUSG00000024384
Gene Name IWS1, SUPT6 interacting protein
Synonyms 1700069O15Rik
MMRRC Submission 068951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R9189 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 32200794-32237381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32213213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 214 (E214K)
Ref Sequence ENSEMBL: ENSMUSP00000025243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025243] [ENSMUST00000212675]
AlphaFold Q8C1D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000025243
AA Change: E214K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025243
Gene: ENSMUSG00000024384
AA Change: E214K

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 probably benign
Transcript: ENSMUST00000212280
Predicted Effect possibly damaging
Transcript: ENSMUST00000212675
AA Change: E214K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213074
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T A 11: 116,065,231 (GRCm39) D608V probably damaging Het
Actg1 A T 11: 120,239,013 (GRCm39) C26S unknown Het
Ahnak T A 19: 8,988,247 (GRCm39) V3177E possibly damaging Het
Akap11 G A 14: 78,750,938 (GRCm39) T483I Het
Akr1cl A G 1: 65,063,830 (GRCm39) S120P probably benign Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Ankrd55 A T 13: 112,504,570 (GRCm39) I439F probably damaging Het
Asb8 A G 15: 98,040,635 (GRCm39) M9T possibly damaging Het
Ascc1 A T 10: 59,843,645 (GRCm39) Y69F probably benign Het
Atp9a A T 2: 168,518,060 (GRCm39) probably null Het
Cd8b1 T C 6: 71,306,752 (GRCm39) F160L probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cep250 A G 2: 155,818,350 (GRCm39) T842A probably benign Het
Cgnl1 T A 9: 71,630,847 (GRCm39) K552* probably null Het
Cntnap4 C T 8: 113,602,600 (GRCm39) T1227M possibly damaging Het
Cobll1 C A 2: 64,981,333 (GRCm39) V86F probably damaging Het
Dchs2 A G 3: 83,255,561 (GRCm39) N2419S probably damaging Het
Dhx30 A T 9: 109,914,494 (GRCm39) L1001* probably null Het
Diaph1 C T 18: 38,024,162 (GRCm39) V559M unknown Het
Dis3l A T 9: 64,217,731 (GRCm39) H783Q probably benign Het
Dock7 T G 4: 98,877,350 (GRCm39) T1063P unknown Het
Dsc1 T C 18: 20,232,214 (GRCm39) T265A possibly damaging Het
Eif2ak4 A T 2: 118,258,393 (GRCm39) Q581L probably damaging Het
Eprs1 A T 1: 185,106,334 (GRCm39) D183V possibly damaging Het
Fads2 G C 19: 10,069,183 (GRCm39) D80E probably benign Het
Fam167b G A 4: 129,470,875 (GRCm39) R158C probably damaging Het
Flnb T A 14: 7,892,976 (GRCm38) I682K possibly damaging Het
Garin4 G A 1: 190,894,900 (GRCm39) T581I possibly damaging Het
Gpatch2l C T 12: 86,291,152 (GRCm39) P112S probably benign Het
Gpn1 T A 5: 31,654,710 (GRCm39) H87Q unknown Het
Greb1l T C 18: 10,499,983 (GRCm39) V350A probably benign Het
Grm5 A T 7: 87,724,024 (GRCm39) K771N probably damaging Het
Gucy2c C T 6: 136,728,045 (GRCm39) S319N probably benign Het
H2bc8 A G 13: 23,755,761 (GRCm39) D52G probably damaging Het
Hcfc2 G T 10: 82,535,041 (GRCm39) A22S probably benign Het
Hnf4a A G 2: 163,393,497 (GRCm39) D39G probably benign Het
Il6st C T 13: 112,635,340 (GRCm39) T584M probably damaging Het
Irf3 T A 7: 44,650,246 (GRCm39) V254E possibly damaging Het
Kank4 T A 4: 98,668,289 (GRCm39) K53* probably null Het
Kcnj11 A T 7: 45,748,176 (GRCm39) F382L possibly damaging Het
Kcnq3 T C 15: 65,867,510 (GRCm39) Y711C probably damaging Het
Kctd3 A G 1: 188,704,636 (GRCm39) S712P possibly damaging Het
Krt20 A G 11: 99,323,087 (GRCm39) I245T possibly damaging Het
Larp1b T C 3: 40,925,039 (GRCm39) I219T probably damaging Het
Lman2l A G 1: 36,478,771 (GRCm39) F114L probably damaging Het
Loxl2 T A 14: 69,929,859 (GRCm39) Y746N possibly damaging Het
Lrrc43 T C 5: 123,646,109 (GRCm39) S628P probably benign Het
Mroh8 A C 2: 157,111,545 (GRCm39) D136E probably damaging Het
Nek8 T A 11: 78,063,342 (GRCm39) M141L probably benign Het
Nr2e1 C A 10: 42,454,268 (GRCm39) R22L probably damaging Het
Nr6a1 C T 2: 38,816,129 (GRCm39) probably null Het
Onecut2 A G 18: 64,473,890 (GRCm39) Y147C probably damaging Het
Or1ad1 T A 11: 50,876,166 (GRCm39) C213S probably damaging Het
Or1j1 T A 2: 36,702,214 (GRCm39) M297L possibly damaging Het
Or5d37 A G 2: 87,924,194 (GRCm39) F29L probably damaging Het
Or5d39 T C 2: 87,979,908 (GRCm39) M152V probably benign Het
Pcdhac2 T C 18: 37,277,316 (GRCm39) F99L probably benign Het
Pcdhga2 T G 18: 37,802,795 (GRCm39) V213G possibly damaging Het
Pgap1 A T 1: 54,519,908 (GRCm39) V909E probably benign Het
Pik3r4 A T 9: 105,547,038 (GRCm39) T939S probably benign Het
Pip4k2c T C 10: 127,035,246 (GRCm39) D374G possibly damaging Het
Plxdc1 A T 11: 97,844,788 (GRCm39) D252E probably benign Het
Pm20d1 A C 1: 131,730,115 (GRCm39) D218A probably damaging Het
Polq C A 16: 36,865,265 (GRCm39) Q706K probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prss41 A T 17: 24,061,361 (GRCm39) H143Q probably damaging Het
Ptpn21 A G 12: 98,655,261 (GRCm39) Y569H probably damaging Het
Rad17 T C 13: 100,773,564 (GRCm39) K142E probably damaging Het
Rcan3 T C 4: 135,152,607 (GRCm39) E38G probably benign Het
Rgl3 C A 9: 21,885,356 (GRCm39) R658L possibly damaging Het
Rnf125 T A 18: 21,116,240 (GRCm39) *141K probably null Het
Ros1 G T 10: 52,019,502 (GRCm39) N711K probably damaging Het
Rsph10b T A 5: 143,896,504 (GRCm39) Y421N probably benign Het
Ryr1 C T 7: 28,776,471 (GRCm39) V2222I probably damaging Het
Samsn1 C T 16: 75,656,449 (GRCm39) C333Y probably damaging Het
Slc9a2 G A 1: 40,794,944 (GRCm39) E502K probably benign Het
Stard9 A T 2: 120,533,500 (GRCm39) E3252D possibly damaging Het
Syne1 C A 10: 5,123,008 (GRCm39) R309S probably damaging Het
Syne1 T C 10: 5,172,289 (GRCm39) I5051V probably benign Het
Syngap1 A G 17: 27,183,948 (GRCm39) S1241G probably damaging Het
Tbpl2 T C 2: 23,966,030 (GRCm39) K321R probably damaging Het
Tnrc18 C T 5: 142,717,107 (GRCm39) G2449E probably damaging Het
Trim25 A G 11: 88,901,731 (GRCm39) D342G probably benign Het
Tssk4 T A 14: 55,887,904 (GRCm39) H33Q probably benign Het
Ttc3 G A 16: 94,268,831 (GRCm39) G1971D possibly damaging Het
Tufm C T 7: 126,088,849 (GRCm39) Q347* probably null Het
Ubxn10 G A 4: 138,448,133 (GRCm39) S181F possibly damaging Het
Ushbp1 T C 8: 71,841,539 (GRCm39) E430G probably benign Het
Vmn1r33 T C 6: 66,588,716 (GRCm39) I279M possibly damaging Het
Vmn2r115 T C 17: 23,564,784 (GRCm39) F224L probably damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vps13a T C 19: 16,663,961 (GRCm39) I1481V probably benign Het
Vps35 T C 8: 86,007,898 (GRCm39) N294S possibly damaging Het
Washc3 A T 10: 88,051,916 (GRCm39) T102S probably benign Het
Zfp27 T A 7: 29,595,359 (GRCm39) E202V possibly damaging Het
Zfp58 T C 13: 67,640,035 (GRCm39) H152R possibly damaging Het
Zfr2 T C 10: 81,080,496 (GRCm39) V390A 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
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
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'- CTGAAGCTGAGGACACTCTG -3'
(R):5'- ACTGTCATCTGAGTCTGGCTTC -3'

Sequencing Primer
(F):5'- TGAGGACACTCTGCAGCCTC -3'
(R):5'- CTCTTTGTGTCTGGAGGCATCC -3'
Posted On 2022-02-07