Incidental Mutation 'R8399:Skor1'
ID 647776
Institutional Source Beutler Lab
Gene Symbol Skor1
Ensembl Gene ENSMUSG00000022245
Gene Name SKI family transcriptional corepressor 1
Synonyms Corl1, Lbxcor1, C230094B15Rik
MMRRC Submission 067762-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.444) question?
Stock # R8399 (G1)
Quality Score 224.009
Status Not validated
Chromosome 9
Chromosomal Location 63045452-63056243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63052440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 510 (V510I)
Ref Sequence ENSEMBL: ENSMUSP00000055037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]
AlphaFold Q8BX46
Predicted Effect possibly damaging
Transcript: ENSMUST00000055281
AA Change: V510I

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: V510I

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: V471I

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: V471I

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: V482I

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: V482I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,637,289 (GRCm39) V3384D possibly damaging Het
Apba3 C A 10: 81,104,832 (GRCm39) T35N probably benign Het
Bcl6 T C 16: 23,791,698 (GRCm39) M219V probably benign Het
Bco2 T A 9: 50,452,418 (GRCm39) T217S probably benign Het
C1s1 C T 6: 124,512,252 (GRCm39) V277I probably benign Het
Ccdc162 T A 10: 41,415,517 (GRCm39) R2149W probably damaging Het
Cers6 T C 2: 68,692,115 (GRCm39) F46L probably benign Het
Chpf T C 1: 75,452,864 (GRCm39) I359V probably benign Het
Chrnb4 A C 9: 54,951,107 (GRCm39) L52R probably benign Het
Cox6a1 T C 5: 115,483,958 (GRCm39) T95A probably damaging Het
Def8 T A 8: 124,182,238 (GRCm39) Y197* probably null Het
Dmbt1 C G 7: 130,684,317 (GRCm39) D778E unknown Het
Dnaaf3 C T 7: 4,526,936 (GRCm39) probably null Het
Dnm1l T A 16: 16,139,536 (GRCm39) H484L probably damaging Het
Eml1 G A 12: 108,504,390 (GRCm39) S783N possibly damaging Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Hck A C 2: 152,980,237 (GRCm39) K355N probably damaging Het
Hexim2 G T 11: 103,029,329 (GRCm39) R127L probably damaging Het
Hivep2 T C 10: 14,008,178 (GRCm39) L1592P possibly damaging Het
Htr1d G A 4: 136,170,686 (GRCm39) G305E probably damaging Het
Ifi207 G A 1: 173,557,844 (GRCm39) S298L unknown Het
Ighv1-11 A G 12: 114,576,047 (GRCm39) V56A possibly damaging Het
Ighv7-1 G A 12: 113,860,532 (GRCm39) T12I unknown Het
Kctd14 T C 7: 97,106,811 (GRCm39) L22P probably damaging Het
Klra17 T C 6: 129,851,900 (GRCm39) probably benign Het
Kndc1 C T 7: 139,493,434 (GRCm39) R467W probably damaging Het
Maf T A 8: 116,433,251 (GRCm39) I118F unknown Het
Mppe1 T C 18: 67,358,946 (GRCm39) T341A probably benign Het
Mtmr2 T A 9: 13,703,363 (GRCm39) V186E probably benign Het
Nedd9 G T 13: 41,471,950 (GRCm39) Y176* probably null Het
Omd A G 13: 49,743,345 (GRCm39) I132V possibly damaging Het
Or12e10 A C 2: 87,640,568 (GRCm39) M135L probably damaging Het
Or4a39 T C 2: 89,237,028 (GRCm39) T132A probably benign Het
Pcnx4 T A 12: 72,620,985 (GRCm39) M935K probably benign Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Plcg2 T C 8: 118,323,101 (GRCm39) Y719H probably damaging Het
Plk4 C T 3: 40,763,265 (GRCm39) R479* probably null Het
Pms1 T A 1: 53,307,091 (GRCm39) probably null Het
Raph1 C T 1: 60,528,477 (GRCm39) S928N unknown Het
Rtp4 G T 16: 23,339,164 (GRCm39) probably benign Het
Smg1 T C 7: 117,789,794 (GRCm39) T699A unknown Het
Tcp11l1 T C 2: 104,515,720 (GRCm39) D381G probably benign Het
Tnik T A 3: 28,548,159 (GRCm39) M56K unknown Het
Trappc9 G A 15: 72,924,131 (GRCm39) R204C probably damaging Het
Trmt10b A T 4: 45,305,870 (GRCm39) M184L possibly damaging Het
Vmn1r224 T A 17: 20,640,011 (GRCm39) I196N probably damaging Het
Vmn1r49 A T 6: 90,049,689 (GRCm39) C104* probably null Het
Vmn2r35 A C 7: 7,819,897 (GRCm39) S124R probably benign Het
Wdr62 T C 7: 29,957,486 (GRCm39) E547G probably damaging Het
Zfp68 A T 5: 138,606,082 (GRCm39) D80E probably benign 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
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
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'- ATCCTTAACTACGGGTCGGAAGG -3'
(R):5'- GCACAATGTTCTGGGGACATC -3'

Sequencing Primer
(F):5'- AGGCTGACACGTAGGAGCTTTTG -3'
(R):5'- AATGTTCTGGGGACATCAACCTTC -3'
Posted On 2020-09-02