Incidental Mutation 'R4698:Skor1'
ID 355841
Institutional Source Beutler Lab
Gene Symbol Skor1
Ensembl Gene ENSMUSG00000022245
Gene Name SKI family transcriptional corepressor 1
Synonyms Corl1, C230094B15Rik, Lbxcor1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R4698 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 63138170-63148961 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63144548 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 685 (D685G)
Ref Sequence ENSEMBL: ENSMUSP00000113924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
AlphaFold Q8BX46
Predicted Effect probably benign
Transcript: ENSMUST00000055281
AA Change: D713G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: D713G

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
AA Change: D674G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: D674G

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
AA Change: D685G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: D685G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A G 17: 48,038,240 (GRCm38) V11A possibly damaging Het
6030452D12Rik T C 8: 106,504,347 (GRCm38) I55T unknown Het
Aadacl2 A G 3: 60,025,039 (GRCm38) D325G probably benign Het
Adh1 A G 3: 138,282,513 (GRCm38) S113G probably benign Het
Agxt2 T C 15: 10,392,044 (GRCm38) probably null Het
Aicda C T 6: 122,553,888 (GRCm38) probably benign Het
Aifm2 T C 10: 61,727,756 (GRCm38) M135T probably benign Het
Asah2 T C 19: 32,054,471 (GRCm38) probably null Het
Btbd17 T C 11: 114,791,717 (GRCm38) R390G probably damaging Het
Cadps T C 14: 12,705,654 (GRCm38) E247G possibly damaging Het
Cds2 T C 2: 132,304,953 (GRCm38) I383T probably damaging Het
Celf3 T A 3: 94,484,867 (GRCm38) probably null Het
Crhr2 T C 6: 55,102,867 (GRCm38) S162G possibly damaging Het
Dapl1 A T 2: 59,504,774 (GRCm38) K91* probably null Het
Ddx60 A C 8: 62,012,424 (GRCm38) M1372L probably benign Het
Dnah2 A T 11: 69,498,532 (GRCm38) F845I probably damaging Het
Dscam T C 16: 96,610,324 (GRCm38) D1784G probably damaging Het
Ech1 T C 7: 28,832,053 (GRCm38) V310A probably benign Het
Eef1g A G 19: 8,977,966 (GRCm38) D393G possibly damaging Het
Eif3k T C 7: 28,972,544 (GRCm38) I172V possibly damaging Het
Foxd4 A G 19: 24,900,261 (GRCm38) F192L probably damaging Het
Gpr153 T A 4: 152,281,783 (GRCm38) S268R probably damaging Het
Hist2h3b C A 3: 96,269,078 (GRCm38) R129S probably damaging Het
Ivl T C 3: 92,571,391 (GRCm38) K456E unknown Het
Kif20b A T 19: 34,951,544 (GRCm38) D1190V probably damaging Het
Kif21a T A 15: 90,956,305 (GRCm38) I1223L possibly damaging Het
Lmf1 T C 17: 25,579,350 (GRCm38) V55A probably damaging Het
Loxhd1 A G 18: 77,372,291 (GRCm38) E659G possibly damaging Het
Lrrc37a T C 11: 103,504,104 (GRCm38) E165G possibly damaging Het
Mios T C 6: 8,228,113 (GRCm38) Y677H possibly damaging Het
Mnx1 T A 5: 29,474,059 (GRCm38) K342M unknown Het
Mtpap A T 18: 4,375,724 (GRCm38) T35S possibly damaging Het
Ndc1 C G 4: 107,411,137 (GRCm38) D623E probably benign Het
Nedd4l A G 18: 65,203,880 (GRCm38) Y666C probably damaging Het
Olfr1022 A G 2: 85,869,252 (GRCm38) Y220C possibly damaging Het
Olfr1445 T G 19: 12,884,621 (GRCm38) F247V probably benign Het
Olfr204 T C 16: 59,315,357 (GRCm38) T17A probably damaging Het
Olfr605 T A 7: 103,442,635 (GRCm38) I163F possibly damaging Het
Papss1 G T 3: 131,607,331 (GRCm38) V369F probably damaging Het
Pcdhac2 T A 18: 37,145,769 (GRCm38) Y601N probably damaging Het
Pde7a C T 3: 19,310,931 (GRCm38) R24Q probably damaging Het
Phf21a A G 2: 92,356,952 (GRCm38) D445G probably damaging Het
Plekho1 T A 3: 95,995,652 (GRCm38) N15I possibly damaging Het
Pprc1 T C 19: 46,069,195 (GRCm38) probably benign Het
Ralgapa1 A T 12: 55,677,276 (GRCm38) probably null Het
Rrp12 T C 19: 41,873,042 (GRCm38) E942G probably benign Het
Smim23 A T 11: 32,824,510 (GRCm38) I3N possibly damaging Het
Spata7 A T 12: 98,664,277 (GRCm38) I333F probably damaging Het
Sppl2c T C 11: 104,188,315 (GRCm38) I647T probably benign Het
Srgap1 C A 10: 121,792,487 (GRCm38) R837L probably benign Het
Stpg2 C A 3: 139,309,229 (GRCm38) P385H probably damaging Het
Tmem238 C A 7: 4,789,017 (GRCm38) E19* probably null Het
Top2b A T 14: 16,387,331 (GRCm38) K140* probably null Het
Trp53 T A 11: 69,588,422 (GRCm38) L142* probably null Het
Tyro3 A T 2: 119,803,270 (GRCm38) D133V probably damaging Het
Virma T A 4: 11,528,636 (GRCm38) I1291N probably damaging Het
Vmn1r213 A G 13: 23,011,337 (GRCm38) probably benign Het
Zbtb10 T C 3: 9,264,550 (GRCm38) S323P possibly damaging Het
Zfp521 A T 18: 13,845,603 (GRCm38) N584K probably damaging Het
Zfp944 A G 17: 22,339,199 (GRCm38) C356R probably damaging Het
Other mutations in Skor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Skor1 APN 9 63,146,441 (GRCm38) missense probably damaging 1.00
IGL00736:Skor1 APN 9 63,139,538 (GRCm38) missense probably damaging 0.99
IGL01344:Skor1 APN 9 63,142,278 (GRCm38) missense possibly damaging 0.79
IGL01383:Skor1 APN 9 63,146,556 (GRCm38) missense probably benign 0.12
IGL01456:Skor1 APN 9 63,145,490 (GRCm38) missense probably damaging 1.00
IGL02503:Skor1 APN 9 63,146,115 (GRCm38) missense probably damaging 1.00
IGL02526:Skor1 APN 9 63,145,877 (GRCm38) missense probably damaging 1.00
IGL02699:Skor1 APN 9 63,140,046 (GRCm38) splice site probably benign
R0041:Skor1 UTSW 9 63,145,851 (GRCm38) missense probably damaging 1.00
R0092:Skor1 UTSW 9 63,145,995 (GRCm38) missense probably damaging 1.00
R1464:Skor1 UTSW 9 63,140,111 (GRCm38) missense possibly damaging 0.54
R1464:Skor1 UTSW 9 63,140,111 (GRCm38) missense possibly damaging 0.54
R1581:Skor1 UTSW 9 63,146,223 (GRCm38) missense probably damaging 1.00
R1598:Skor1 UTSW 9 63,146,004 (GRCm38) missense probably damaging 1.00
R2172:Skor1 UTSW 9 63,145,122 (GRCm38) missense possibly damaging 0.84
R3734:Skor1 UTSW 9 63,140,068 (GRCm38) missense probably damaging 1.00
R3803:Skor1 UTSW 9 63,145,586 (GRCm38) missense probably benign 0.06
R3839:Skor1 UTSW 9 63,144,448 (GRCm38) missense probably damaging 0.97
R4627:Skor1 UTSW 9 63,145,476 (GRCm38) missense probably damaging 1.00
R4712:Skor1 UTSW 9 63,139,573 (GRCm38) splice site probably null
R4781:Skor1 UTSW 9 63,144,459 (GRCm38) missense probably benign
R5089:Skor1 UTSW 9 63,145,923 (GRCm38) missense probably damaging 0.99
R5735:Skor1 UTSW 9 63,146,064 (GRCm38) missense probably damaging 1.00
R6279:Skor1 UTSW 9 63,145,314 (GRCm38) missense probably damaging 0.99
R6300:Skor1 UTSW 9 63,145,314 (GRCm38) missense probably damaging 0.99
R6396:Skor1 UTSW 9 63,144,950 (GRCm38) missense probably damaging 1.00
R6791:Skor1 UTSW 9 63,140,354 (GRCm38) splice site probably null
R7371:Skor1 UTSW 9 63,146,887 (GRCm38) splice site probably null
R7448:Skor1 UTSW 9 63,146,103 (GRCm38) missense probably damaging 1.00
R7491:Skor1 UTSW 9 63,146,448 (GRCm38) missense probably damaging 0.99
R7496:Skor1 UTSW 9 63,146,850 (GRCm38) missense probably benign 0.02
R7606:Skor1 UTSW 9 63,145,382 (GRCm38) missense probably damaging 1.00
R7664:Skor1 UTSW 9 63,141,763 (GRCm38) missense probably benign 0.08
R7689:Skor1 UTSW 9 63,145,379 (GRCm38) missense probably damaging 1.00
R7793:Skor1 UTSW 9 63,144,885 (GRCm38) missense probably damaging 1.00
R7871:Skor1 UTSW 9 63,146,501 (GRCm38) missense probably damaging 1.00
R7911:Skor1 UTSW 9 63,145,046 (GRCm38) missense possibly damaging 0.50
R8399:Skor1 UTSW 9 63,145,158 (GRCm38) missense possibly damaging 0.50
R8546:Skor1 UTSW 9 63,142,288 (GRCm38) missense probably damaging 1.00
R9244:Skor1 UTSW 9 63,142,242 (GRCm38) critical splice donor site probably null
R9723:Skor1 UTSW 9 63,146,432 (GRCm38) missense probably damaging 1.00
Z1176:Skor1 UTSW 9 63,145,130 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGTGTACGAGGGCAGAATG -3'
(R):5'- GAGAGCATCGCTAAGCTCTACG -3'

Sequencing Primer
(F):5'- AGGTGCACCAGGCTCAC -3'
(R):5'- TACGTGAGCCCGGACTTTCTG -3'
Posted On 2015-10-21