Incidental Mutation 'IGL01383:Skor1'
ID78950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skor1
Ensembl Gene ENSMUSG00000022245
Gene NameSKI family transcriptional corepressor 1
SynonymsCorl1, C230094B15Rik, Lbxcor1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.470) question?
Stock #IGL01383
Quality Score
Status
Chromosome9
Chromosomal Location63138170-63148961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 63146556 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 44 (T44S)
Ref Sequence ENSEMBL: ENSMUSP00000055037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
Predicted Effect probably benign
Transcript: ENSMUST00000055281
AA Change: T44S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T44S

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: T5S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T5S

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: T16S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T16S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 probably null Het
4931409K22Rik A T 5: 24,548,294 N453K probably benign Het
Abca9 A C 11: 110,113,293 probably benign Het
Aox2 T A 1: 58,294,305 M227K probably benign Het
Asb5 T A 8: 54,550,509 L22H probably damaging Het
Atrx T C X: 105,802,075 D2309G probably damaging Het
Cand1 T A 10: 119,208,167 T1074S probably damaging Het
Ccdc114 T C 7: 45,939,700 S179P probably damaging Het
Cep97 T C 16: 55,911,607 E534G probably damaging Het
Cftr C A 6: 18,226,041 N329K probably benign Het
Clec7a T C 6: 129,472,640 T16A probably damaging Het
Col1a1 G A 11: 94,945,525 R674H probably damaging Het
Csf2rb2 T C 15: 78,297,043 S50G possibly damaging Het
Eepd1 A G 9: 25,482,482 D14G probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm13103 T G 4: 143,846,532 probably benign Het
Grin1 C A 2: 25,296,967 R694L possibly damaging Het
Gtf3c1 A G 7: 125,699,500 I151T probably damaging Het
Havcr2 T C 11: 46,469,548 S152P probably damaging Het
Hvcn1 T C 5: 122,237,703 V15A probably damaging Het
Map3k10 C T 7: 27,657,999 V785M probably benign Het
Mis18bp1 T C 12: 65,148,989 N667S probably benign Het
Mup3 A C 4: 62,085,959 Y106D probably damaging Het
Mypn G T 10: 63,135,797 N821K probably damaging Het
Olfr1386 T A 11: 49,471,053 W301R probably benign Het
Olfr152 A G 2: 87,782,873 D111G possibly damaging Het
Olfr209 A T 16: 59,361,953 N88K probably benign Het
Olfr547 A G 7: 102,534,933 Y62C probably benign Het
Pcdhb10 A T 18: 37,413,275 H468L probably benign Het
Prp2 C A 6: 132,599,878 P43T unknown Het
Psg26 A G 7: 18,480,254 V161A possibly damaging Het
Rab17 T G 1: 90,960,093 D115A probably damaging Het
Rrp1b T C 17: 32,058,578 F611L probably damaging Het
Spaca5 T C X: 21,068,486 probably benign Het
Tatdn3 G A 1: 191,055,381 probably benign Het
Tbk1 T C 10: 121,576,279 D118G probably damaging Het
Tnfsf13b T C 8: 10,031,528 F230S probably damaging Het
Tnrc6c T C 11: 117,714,257 S73P probably benign Het
Vmn2r109 A G 17: 20,541,121 V658A possibly damaging Het
Vmn2r116 C T 17: 23,401,601 L770F probably damaging Het
Wwp2 T A 8: 107,533,291 probably null Het
Other mutations in Skor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Skor1 APN 9 63146441 missense probably damaging 1.00
IGL00736:Skor1 APN 9 63139538 missense probably damaging 0.99
IGL01344:Skor1 APN 9 63142278 missense possibly damaging 0.79
IGL01456:Skor1 APN 9 63145490 missense probably damaging 1.00
IGL02503:Skor1 APN 9 63146115 missense probably damaging 1.00
IGL02526:Skor1 APN 9 63145877 missense probably damaging 1.00
IGL02699:Skor1 APN 9 63140046 splice site probably benign
R0041:Skor1 UTSW 9 63145851 missense probably damaging 1.00
R0092:Skor1 UTSW 9 63145995 missense probably damaging 1.00
R1464:Skor1 UTSW 9 63140111 missense possibly damaging 0.54
R1464:Skor1 UTSW 9 63140111 missense possibly damaging 0.54
R1581:Skor1 UTSW 9 63146223 missense probably damaging 1.00
R1598:Skor1 UTSW 9 63146004 missense probably damaging 1.00
R2172:Skor1 UTSW 9 63145122 missense possibly damaging 0.84
R3734:Skor1 UTSW 9 63140068 missense probably damaging 1.00
R3803:Skor1 UTSW 9 63145586 missense probably benign 0.06
R3839:Skor1 UTSW 9 63144448 missense probably damaging 0.97
R4627:Skor1 UTSW 9 63145476 missense probably damaging 1.00
R4698:Skor1 UTSW 9 63144548 missense probably benign
R4712:Skor1 UTSW 9 63139573 splice site probably null
R4781:Skor1 UTSW 9 63144459 missense probably benign
R5089:Skor1 UTSW 9 63145923 missense probably damaging 0.99
R5735:Skor1 UTSW 9 63146064 missense probably damaging 1.00
R6279:Skor1 UTSW 9 63145314 missense probably damaging 0.99
R6300:Skor1 UTSW 9 63145314 missense probably damaging 0.99
R6396:Skor1 UTSW 9 63144950 missense probably damaging 1.00
R6791:Skor1 UTSW 9 63140354 splice site probably null
R7371:Skor1 UTSW 9 63146887 splice site probably null
R7448:Skor1 UTSW 9 63146103 missense probably damaging 1.00
R7491:Skor1 UTSW 9 63146448 missense probably damaging 0.99
R7496:Skor1 UTSW 9 63146850 missense probably benign 0.02
R7606:Skor1 UTSW 9 63145382 missense probably damaging 1.00
R7664:Skor1 UTSW 9 63141763 missense probably benign 0.08
R7689:Skor1 UTSW 9 63145379 missense probably damaging 1.00
R7793:Skor1 UTSW 9 63144885 missense probably damaging 1.00
R7871:Skor1 UTSW 9 63146501 missense probably damaging 1.00
R7911:Skor1 UTSW 9 63145046 missense possibly damaging 0.50
R7954:Skor1 UTSW 9 63146501 missense probably damaging 1.00
R7992:Skor1 UTSW 9 63145046 missense possibly damaging 0.50
Z1176:Skor1 UTSW 9 63145130 missense probably benign 0.00
Posted On2013-11-05