Incidental Mutation 'IGL02699:Skor1'
ID 304079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skor1
Ensembl Gene ENSMUSG00000022245
Gene Name SKI family transcriptional corepressor 1
Synonyms Corl1, Lbxcor1, C230094B15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.444) question?
Stock # IGL02699
Quality Score
Status
Chromosome 9
Chromosomal Location 63045452-63056243 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 63047328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
AlphaFold Q8BX46
Predicted Effect probably benign
Transcript: ENSMUST00000055281
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245

DomainStartEndE-ValueType
Pfam:Ski_Sno 61 168 3.2e-41 PFAM
c-SKI_SMAD_bind 180 272 2.48e-56 SMART
low complexity region 284 312 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
low complexity region 345 366 N/A INTRINSIC
low complexity region 379 398 N/A INTRINSIC
low complexity region 414 454 N/A INTRINSIC
low complexity region 465 479 N/A INTRINSIC
low complexity region 502 525 N/A INTRINSIC
low complexity region 568 582 N/A INTRINSIC
low complexity region 616 630 N/A INTRINSIC
low complexity region 684 696 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
SCOP:d1eq1a_ 850 937 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116613
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245

DomainStartEndE-ValueType
Pfam:Ski_Sno 17 130 3.5e-42 PFAM
c-SKI_SMAD_bind 141 233 2.48e-56 SMART
low complexity region 245 273 N/A INTRINSIC
low complexity region 294 303 N/A INTRINSIC
low complexity region 306 327 N/A INTRINSIC
low complexity region 340 359 N/A INTRINSIC
low complexity region 375 415 N/A INTRINSIC
low complexity region 426 440 N/A INTRINSIC
low complexity region 463 486 N/A INTRINSIC
low complexity region 529 543 N/A INTRINSIC
low complexity region 577 591 N/A INTRINSIC
low complexity region 645 657 N/A INTRINSIC
low complexity region 676 689 N/A INTRINSIC
SCOP:d1eq1a_ 811 898 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119146
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245

DomainStartEndE-ValueType
Pfam:Ski_Sno 28 141 3e-42 PFAM
c-SKI_SMAD_bind 152 244 2.48e-56 SMART
low complexity region 256 284 N/A INTRINSIC
low complexity region 305 314 N/A INTRINSIC
low complexity region 317 338 N/A INTRINSIC
low complexity region 351 370 N/A INTRINSIC
low complexity region 386 426 N/A INTRINSIC
low complexity region 437 451 N/A INTRINSIC
low complexity region 474 497 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
low complexity region 588 602 N/A INTRINSIC
low complexity region 656 668 N/A INTRINSIC
low complexity region 687 700 N/A INTRINSIC
SCOP:d1eq1a_ 822 909 1e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,157,853 (GRCm39) D198G probably benign Het
Casq1 T C 1: 172,047,263 (GRCm39) probably benign Het
Cd109 T A 9: 78,579,271 (GRCm39) probably benign Het
Col15a1 T G 4: 47,284,471 (GRCm39) probably benign Het
Ctdp1 T C 18: 80,493,400 (GRCm39) D365G probably benign Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dalrd3 T A 9: 108,448,088 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,139,105 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo8 A G 8: 57,043,223 (GRCm39) T236A possibly damaging Het
Ighv1-12 C A 12: 114,579,736 (GRCm39) E29* probably null Het
Il17re A G 6: 113,445,880 (GRCm39) D397G probably damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Ipo11 T C 13: 107,025,905 (GRCm39) E395G possibly damaging Het
Letm1 T C 5: 33,902,492 (GRCm39) E599G possibly damaging Het
Mansc1 T C 6: 134,587,317 (GRCm39) T287A probably benign Het
Med1 T C 11: 98,070,851 (GRCm39) N131D possibly damaging Het
Or10ak13 G T 4: 118,639,349 (GRCm39) C144* probably null Het
Or13p3 T C 4: 118,567,395 (GRCm39) S264P probably benign Het
Or6c2b T G 10: 128,947,640 (GRCm39) Y218S probably benign Het
Or8k38 A T 2: 86,488,691 (GRCm39) I37N probably benign Het
Osm T C 11: 4,189,723 (GRCm39) V169A possibly damaging Het
Phkg2 C T 7: 127,181,722 (GRCm39) A278V probably benign Het
Plod2 T A 9: 92,489,195 (GRCm39) M709K probably damaging Het
Pzp A T 6: 128,464,364 (GRCm39) probably null Het
Ric1 T C 19: 29,499,957 (GRCm39) L12P possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Syncrip A G 9: 88,338,607 (GRCm39) probably benign Het
Tex2 T C 11: 106,459,259 (GRCm39) E57G possibly damaging Het
Tmc1 C T 19: 20,809,714 (GRCm39) probably null Het
Tmem59 T C 4: 107,049,735 (GRCm39) M140T probably benign Het
Ttn T C 2: 76,774,433 (GRCm39) T2158A probably damaging Het
Other mutations in Skor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Skor1 APN 9 63,053,723 (GRCm39) missense probably damaging 1.00
IGL00736:Skor1 APN 9 63,046,820 (GRCm39) missense probably damaging 0.99
IGL01344:Skor1 APN 9 63,049,560 (GRCm39) missense possibly damaging 0.79
IGL01383:Skor1 APN 9 63,053,838 (GRCm39) missense probably benign 0.12
IGL01456:Skor1 APN 9 63,052,772 (GRCm39) missense probably damaging 1.00
IGL02503:Skor1 APN 9 63,053,397 (GRCm39) missense probably damaging 1.00
IGL02526:Skor1 APN 9 63,053,159 (GRCm39) missense probably damaging 1.00
R0041:Skor1 UTSW 9 63,053,133 (GRCm39) missense probably damaging 1.00
R0092:Skor1 UTSW 9 63,053,277 (GRCm39) missense probably damaging 1.00
R1464:Skor1 UTSW 9 63,047,393 (GRCm39) missense possibly damaging 0.54
R1464:Skor1 UTSW 9 63,047,393 (GRCm39) missense possibly damaging 0.54
R1581:Skor1 UTSW 9 63,053,505 (GRCm39) missense probably damaging 1.00
R1598:Skor1 UTSW 9 63,053,286 (GRCm39) missense probably damaging 1.00
R2172:Skor1 UTSW 9 63,052,404 (GRCm39) missense possibly damaging 0.84
R3734:Skor1 UTSW 9 63,047,350 (GRCm39) missense probably damaging 1.00
R3803:Skor1 UTSW 9 63,052,868 (GRCm39) missense probably benign 0.06
R3839:Skor1 UTSW 9 63,051,730 (GRCm39) missense probably damaging 0.97
R4627:Skor1 UTSW 9 63,052,758 (GRCm39) missense probably damaging 1.00
R4698:Skor1 UTSW 9 63,051,830 (GRCm39) missense probably benign
R4712:Skor1 UTSW 9 63,046,855 (GRCm39) splice site probably null
R4781:Skor1 UTSW 9 63,051,741 (GRCm39) missense probably benign
R5089:Skor1 UTSW 9 63,053,205 (GRCm39) missense probably damaging 0.99
R5735:Skor1 UTSW 9 63,053,346 (GRCm39) missense probably damaging 1.00
R6279:Skor1 UTSW 9 63,052,596 (GRCm39) missense probably damaging 0.99
R6300:Skor1 UTSW 9 63,052,596 (GRCm39) missense probably damaging 0.99
R6396:Skor1 UTSW 9 63,052,232 (GRCm39) missense probably damaging 1.00
R6791:Skor1 UTSW 9 63,047,636 (GRCm39) splice site probably null
R7371:Skor1 UTSW 9 63,054,169 (GRCm39) splice site probably null
R7448:Skor1 UTSW 9 63,053,385 (GRCm39) missense probably damaging 1.00
R7491:Skor1 UTSW 9 63,053,730 (GRCm39) missense probably damaging 0.99
R7496:Skor1 UTSW 9 63,054,132 (GRCm39) missense probably benign 0.02
R7606:Skor1 UTSW 9 63,052,664 (GRCm39) missense probably damaging 1.00
R7664:Skor1 UTSW 9 63,049,045 (GRCm39) missense probably benign 0.08
R7689:Skor1 UTSW 9 63,052,661 (GRCm39) missense probably damaging 1.00
R7793:Skor1 UTSW 9 63,052,167 (GRCm39) missense probably damaging 1.00
R7871:Skor1 UTSW 9 63,053,783 (GRCm39) missense probably damaging 1.00
R7911:Skor1 UTSW 9 63,052,328 (GRCm39) missense possibly damaging 0.50
R8399:Skor1 UTSW 9 63,052,440 (GRCm39) missense possibly damaging 0.50
R8546:Skor1 UTSW 9 63,049,570 (GRCm39) missense probably damaging 1.00
R9244:Skor1 UTSW 9 63,049,524 (GRCm39) critical splice donor site probably null
R9723:Skor1 UTSW 9 63,053,714 (GRCm39) missense probably damaging 1.00
Z1176:Skor1 UTSW 9 63,052,412 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16