Incidental Mutation 'R5735:Skor1'
ID 451657
Institutional Source Beutler Lab
Gene Symbol Skor1
Ensembl Gene ENSMUSG00000022245
Gene Name SKI family transcriptional corepressor 1
Synonyms Corl1, Lbxcor1, C230094B15Rik
MMRRC Submission 043349-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.444) question?
Stock # R5735 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 63045452-63056243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63053346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 180 (I180F)
Ref Sequence ENSEMBL: ENSMUSP00000113924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
AlphaFold Q8BX46
Predicted Effect probably damaging
Transcript: ENSMUST00000055281
AA Change: I208F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: I208F

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 damaging
Transcript: ENSMUST00000116613
AA Change: I169F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: I169F

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: I180F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: I180F

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: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,984,337 (GRCm39) D109Y possibly damaging Het
Armc8 T A 9: 99,379,447 (GRCm39) probably null Het
Atg4b G T 1: 93,701,519 (GRCm39) G71V probably damaging Het
Atp10b A T 11: 43,042,601 (GRCm39) M54L probably benign Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Bnc2 A C 4: 84,210,908 (GRCm39) L487R probably damaging Het
Cacng7 T C 7: 3,387,539 (GRCm39) S141P probably benign Het
Carmil2 G A 8: 106,424,663 (GRCm39) G1361D probably damaging Het
Cenpf T C 1: 189,386,560 (GRCm39) I1907V probably benign Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Cfap73 T A 5: 120,770,671 (GRCm39) Q33L probably benign Het
Cip2a T A 16: 48,837,856 (GRCm39) probably null Het
Cmtm2a A T 8: 105,019,418 (GRCm39) I57N probably damaging Het
Col6a2 T A 10: 76,435,727 (GRCm39) D836V probably benign Het
Dnah2 A G 11: 69,321,643 (GRCm39) V3839A possibly damaging Het
Enpp1 A T 10: 24,530,817 (GRCm39) F546L possibly damaging Het
Eps8l2 A G 7: 140,940,290 (GRCm39) T507A probably damaging Het
Erg28 C T 12: 85,862,926 (GRCm39) E129K probably benign Het
Erlec1 A T 11: 30,900,591 (GRCm39) N153K probably benign Het
Fam234a T C 17: 26,432,679 (GRCm39) E490G probably damaging Het
Fat4 C T 3: 39,003,725 (GRCm39) R1815C probably damaging Het
Galnt1 T G 18: 24,397,577 (GRCm39) I226S possibly damaging Het
Ifnl2 T A 7: 28,209,614 (GRCm39) I58F possibly damaging Het
Itih5 A G 2: 10,245,572 (GRCm39) N554D probably benign Het
Kcna10 A G 3: 107,102,394 (GRCm39) I342V probably benign Het
Kif6 G A 17: 50,139,210 (GRCm39) E561K probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lpar2 G T 8: 70,276,385 (GRCm39) R58L probably damaging Het
Macrod2 A G 2: 140,260,809 (GRCm39) T27A possibly damaging Het
Mfsd2a A T 4: 122,843,120 (GRCm39) V387D probably damaging Het
Npas3 A T 12: 54,050,262 (GRCm39) T231S probably benign Het
Or4a70 A T 2: 89,323,812 (GRCm39) N281K probably damaging Het
Or52n5 A T 7: 104,587,966 (GRCm39) T78S probably benign Het
Or5aq1b A T 2: 86,901,756 (GRCm39) C241S probably damaging Het
Or8h10 A G 2: 86,809,044 (GRCm39) V32A probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde10a A T 17: 9,160,024 (GRCm39) I432F probably damaging Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Pomt1 G A 2: 32,133,517 (GRCm39) G218R probably damaging Het
Potefam1 A T 2: 111,055,837 (GRCm39) L183* probably null Het
Pramel22 A T 4: 143,381,205 (GRCm39) C273S probably damaging Het
Prdm5 C T 6: 65,904,974 (GRCm39) T157I possibly damaging Het
Psen2 T A 1: 180,068,491 (GRCm39) E54V probably benign Het
Ptpn13 C A 5: 103,702,686 (GRCm39) H1217Q probably benign Het
Ptprt A G 2: 161,376,484 (GRCm39) S1306P probably damaging Het
Ptpru G T 4: 131,565,401 (GRCm39) P23T probably benign Het
Rtn3 T C 19: 7,434,057 (GRCm39) E626G probably damaging Het
Scn3a A T 2: 65,312,622 (GRCm39) M1191K probably damaging Het
Scn3a T A 2: 65,314,803 (GRCm39) N1086I probably benign Het
Sgms2 A T 3: 131,129,866 (GRCm39) M174K probably damaging Het
Slit2 T G 5: 48,416,958 (GRCm39) C1003W probably damaging Het
Tbc1d2b T A 9: 90,104,462 (GRCm39) Q560L possibly damaging Het
Themis A G 10: 28,598,530 (GRCm39) I51V probably benign Het
Tmem203 T C 2: 25,146,085 (GRCm39) V135A probably benign Het
Tns1 T C 1: 73,967,138 (GRCm39) T1212A probably benign Het
Trgv5 T G 13: 19,376,695 (GRCm39) H47Q probably benign Het
Trim2 G A 3: 84,075,029 (GRCm39) A697V probably damaging Het
Ubxn4 T C 1: 128,186,677 (GRCm39) S37P possibly damaging Het
Vmn2r17 A G 5: 109,600,716 (GRCm39) I671M possibly damaging Het
Vmn2r94 G T 17: 18,464,066 (GRCm39) S741R probably damaging Het
Vwce C A 19: 10,624,431 (GRCm39) D414E probably benign Het
Zfp397 T C 18: 24,093,249 (GRCm39) S245P possibly damaging Het
Zfp747l1 G T 7: 126,984,579 (GRCm39) H174Q possibly damaging Het
Zfp809 T A 9: 22,150,227 (GRCm39) Y241* probably null Het
Zfp995 C T 17: 22,101,010 (GRCm39) C29Y probably benign Het
Zfta A G 19: 7,400,161 (GRCm39) E209G probably benign Het
Zfyve26 T C 12: 79,320,147 (GRCm39) D1066G 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
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
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
Predicted Primers PCR Primer
(F):5'- ATAGCCTTGACGTCCTCCCAAG -3'
(R):5'- ATCACATGCGTGCAATGC -3'

Sequencing Primer
(F):5'- AAGCGTGGCTCAGTTCGTC -3'
(R):5'- TGCAGCTGGAGATACTGCGTC -3'
Posted On 2017-01-03