Incidental Mutation 'IGL01456:Skor1'
ID 84786
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 # IGL01456
Quality Score
Status
Chromosome 9
Chromosomal Location 63045452-63056243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63052772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 399 (T399I)
Ref Sequence ENSEMBL: ENSMUSP00000055037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
AlphaFold Q8BX46
Predicted Effect probably damaging
Transcript: ENSMUST00000055281
AA Change: T399I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T399I

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 possibly damaging
Transcript: ENSMUST00000116613
AA Change: T360I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T360I

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 damaging
Transcript: ENSMUST00000119146
AA Change: T371I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T371I

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
Adam6b T A 12: 113,455,083 (GRCm39) D633E probably benign Het
Akap13 T C 7: 75,252,595 (GRCm39) C242R probably damaging Het
Ap5z1 T C 5: 142,453,791 (GRCm39) L175P probably damaging Het
Arid1b A G 17: 5,341,510 (GRCm39) E938G probably damaging Het
Arid4a A G 12: 71,114,036 (GRCm39) N208D probably benign Het
Atr A G 9: 95,832,618 (GRCm39) H2556R possibly damaging Het
Cald1 A T 6: 34,741,931 (GRCm39) D438V probably damaging Het
Dcbld2 C T 16: 58,229,236 (GRCm39) P40S possibly damaging Het
Dock8 G A 19: 25,096,863 (GRCm39) M590I possibly damaging Het
Gm1818 A T 12: 48,602,583 (GRCm39) noncoding transcript Het
Hace1 A G 10: 45,586,094 (GRCm39) probably benign Het
Igkv10-96 A G 6: 68,609,086 (GRCm39) Y70H probably benign Het
Kdm2a G T 19: 4,401,783 (GRCm39) H200Q probably damaging Het
Ldha A G 7: 46,499,602 (GRCm39) D111G possibly damaging Het
Map7 A G 10: 20,149,550 (GRCm39) E567G unknown Het
Nbeal1 G T 1: 60,269,787 (GRCm39) L375F probably damaging Het
Nectin3 T C 16: 46,279,216 (GRCm39) E254G probably benign Het
Nlrp4b A T 7: 10,448,150 (GRCm39) I118F probably benign Het
Pkhd1 A T 1: 20,269,683 (GRCm39) V3287D probably damaging Het
Ptpre T G 7: 135,271,531 (GRCm39) V375G probably damaging Het
Rabgap1 A G 2: 37,431,187 (GRCm39) E746G probably damaging Het
Sh2b2 C T 5: 136,253,321 (GRCm39) C311Y probably damaging Het
Sptbn2 A G 19: 4,796,777 (GRCm39) T1792A probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tln1 G A 4: 43,543,432 (GRCm39) probably benign Het
Tmc7 C A 7: 118,146,533 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tpte A G 8: 22,835,068 (GRCm39) probably benign Het
Unc13a G A 8: 72,097,211 (GRCm39) R1228W probably damaging Het
Vipr1 C T 9: 121,494,244 (GRCm39) T275M probably damaging Het
Vmn1r177 G T 7: 23,565,753 (GRCm39) P41Q possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K 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
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
IGL02699:Skor1 APN 9 63,047,328 (GRCm39) splice site probably benign
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 2013-11-11