Incidental Mutation 'R2217:Slf1'
ID 241231
Institutional Source Beutler Lab
Gene Symbol Slf1
Ensembl Gene ENSMUSG00000021597
Gene Name SMC5-SMC6 complex localization factor 1
Synonyms Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 77191207-77283592 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 77194825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151524] [ENSMUST00000151524]
AlphaFold Q8R3P9
Predicted Effect probably null
Transcript: ENSMUST00000151524
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
BRCT 121 199 2.12e1 SMART
low complexity region 260 273 N/A INTRINSIC
low complexity region 527 541 N/A INTRINSIC
low complexity region 765 785 N/A INTRINSIC
ANK 802 832 1.52e0 SMART
ANK 836 865 4.32e-5 SMART
ANK 870 900 2.07e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000151524
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
BRCT 121 199 2.12e1 SMART
low complexity region 260 273 N/A INTRINSIC
low complexity region 527 541 N/A INTRINSIC
low complexity region 765 785 N/A INTRINSIC
ANK 802 832 1.52e0 SMART
ANK 836 865 4.32e-5 SMART
ANK 870 900 2.07e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162005
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes donot show any major cell cycle defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Slf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Slf1 APN 13 77,192,066 (GRCm39) missense possibly damaging 0.95
IGL01105:Slf1 APN 13 77,249,031 (GRCm39) unclassified probably benign
IGL01108:Slf1 APN 13 77,273,594 (GRCm39) splice site probably benign
IGL01149:Slf1 APN 13 77,260,767 (GRCm39) missense probably damaging 0.99
IGL01642:Slf1 APN 13 77,198,034 (GRCm39) missense probably benign 0.00
IGL01757:Slf1 APN 13 77,232,559 (GRCm39) missense probably benign
IGL01887:Slf1 APN 13 77,249,101 (GRCm39) missense probably benign 0.02
IGL02323:Slf1 APN 13 77,199,413 (GRCm39) missense possibly damaging 0.87
IGL02861:Slf1 APN 13 77,274,478 (GRCm39) splice site probably benign
IGL02971:Slf1 APN 13 77,195,223 (GRCm39) splice site probably benign
IGL03088:Slf1 APN 13 77,232,554 (GRCm39) missense probably damaging 1.00
IGL03215:Slf1 APN 13 77,198,096 (GRCm39) missense probably benign 0.00
IGL02980:Slf1 UTSW 13 77,192,123 (GRCm39) missense possibly damaging 0.92
PIT1430001:Slf1 UTSW 13 77,198,169 (GRCm39) splice site probably benign
R0036:Slf1 UTSW 13 77,249,070 (GRCm39) missense probably benign 0.02
R0036:Slf1 UTSW 13 77,249,070 (GRCm39) missense probably benign 0.02
R0125:Slf1 UTSW 13 77,191,864 (GRCm39) missense probably benign 0.02
R0230:Slf1 UTSW 13 77,260,867 (GRCm39) intron probably benign
R0244:Slf1 UTSW 13 77,274,751 (GRCm39) nonsense probably null
R0395:Slf1 UTSW 13 77,254,088 (GRCm39) splice site probably benign
R0614:Slf1 UTSW 13 77,197,233 (GRCm39) missense probably benign 0.10
R0661:Slf1 UTSW 13 77,231,715 (GRCm39) missense probably benign 0.31
R0837:Slf1 UTSW 13 77,249,067 (GRCm39) splice site probably null
R0945:Slf1 UTSW 13 77,251,590 (GRCm39) unclassified probably benign
R1282:Slf1 UTSW 13 77,191,959 (GRCm39) missense probably damaging 0.97
R1365:Slf1 UTSW 13 77,274,490 (GRCm39) missense probably damaging 1.00
R1449:Slf1 UTSW 13 77,231,568 (GRCm39) missense probably damaging 1.00
R1646:Slf1 UTSW 13 77,214,767 (GRCm39) nonsense probably null
R2071:Slf1 UTSW 13 77,252,743 (GRCm39) missense probably benign 0.02
R2141:Slf1 UTSW 13 77,197,338 (GRCm39) critical splice acceptor site probably null
R2397:Slf1 UTSW 13 77,251,702 (GRCm39) nonsense probably null
R2520:Slf1 UTSW 13 77,199,384 (GRCm39) missense probably damaging 1.00
R3108:Slf1 UTSW 13 77,274,840 (GRCm39) splice site probably benign
R4178:Slf1 UTSW 13 77,191,688 (GRCm39) missense probably damaging 1.00
R4663:Slf1 UTSW 13 77,274,723 (GRCm39) missense probably damaging 1.00
R4730:Slf1 UTSW 13 77,194,751 (GRCm39) missense probably damaging 1.00
R4910:Slf1 UTSW 13 77,191,999 (GRCm39) missense probably benign 0.14
R4912:Slf1 UTSW 13 77,199,413 (GRCm39) missense probably damaging 1.00
R5122:Slf1 UTSW 13 77,198,106 (GRCm39) missense probably benign 0.01
R5269:Slf1 UTSW 13 77,252,700 (GRCm39) missense probably benign 0.33
R5336:Slf1 UTSW 13 77,254,129 (GRCm39) makesense probably null
R5346:Slf1 UTSW 13 77,240,490 (GRCm39) missense probably benign 0.00
R5445:Slf1 UTSW 13 77,239,323 (GRCm39) missense probably benign 0.10
R5568:Slf1 UTSW 13 77,194,823 (GRCm39) missense probably damaging 1.00
R5622:Slf1 UTSW 13 77,198,090 (GRCm39) missense probably benign 0.14
R5685:Slf1 UTSW 13 77,231,598 (GRCm39) missense possibly damaging 0.88
R5792:Slf1 UTSW 13 77,214,856 (GRCm39) missense probably benign 0.03
R5856:Slf1 UTSW 13 77,254,206 (GRCm39) missense possibly damaging 0.63
R6109:Slf1 UTSW 13 77,274,799 (GRCm39) missense probably damaging 0.99
R6245:Slf1 UTSW 13 77,232,502 (GRCm39) missense probably damaging 1.00
R6338:Slf1 UTSW 13 77,232,581 (GRCm39) critical splice acceptor site probably null
R6438:Slf1 UTSW 13 77,214,725 (GRCm39) missense probably damaging 1.00
R6487:Slf1 UTSW 13 77,214,736 (GRCm39) missense probably damaging 1.00
R6597:Slf1 UTSW 13 77,197,248 (GRCm39) missense probably benign 0.01
R6600:Slf1 UTSW 13 77,231,655 (GRCm39) missense probably benign 0.00
R6661:Slf1 UTSW 13 77,191,964 (GRCm39) missense probably damaging 1.00
R7268:Slf1 UTSW 13 77,214,826 (GRCm39) missense probably damaging 1.00
R7308:Slf1 UTSW 13 77,199,287 (GRCm39) missense probably benign 0.19
R7355:Slf1 UTSW 13 77,239,422 (GRCm39) missense probably damaging 1.00
R7546:Slf1 UTSW 13 77,197,311 (GRCm39) missense probably benign
R7807:Slf1 UTSW 13 77,194,823 (GRCm39) missense probably damaging 1.00
R8175:Slf1 UTSW 13 77,260,790 (GRCm39) missense probably damaging 1.00
R8385:Slf1 UTSW 13 77,254,109 (GRCm39) missense probably benign
R8698:Slf1 UTSW 13 77,197,284 (GRCm39) missense possibly damaging 0.78
R8770:Slf1 UTSW 13 77,194,766 (GRCm39) missense probably damaging 1.00
R8786:Slf1 UTSW 13 77,274,806 (GRCm39) missense possibly damaging 0.93
R8796:Slf1 UTSW 13 77,214,784 (GRCm39) missense probably benign 0.00
R8932:Slf1 UTSW 13 77,194,693 (GRCm39) missense probably damaging 1.00
R9132:Slf1 UTSW 13 77,249,073 (GRCm39) missense probably benign 0.24
R9243:Slf1 UTSW 13 77,273,575 (GRCm39) missense possibly damaging 0.95
R9274:Slf1 UTSW 13 77,191,669 (GRCm39) makesense probably null
R9286:Slf1 UTSW 13 77,191,932 (GRCm39) missense probably damaging 0.99
R9416:Slf1 UTSW 13 77,194,656 (GRCm39) missense
R9612:Slf1 UTSW 13 77,197,204 (GRCm39) critical splice donor site probably null
X0018:Slf1 UTSW 13 77,199,357 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTTGCCAATCTCCACATG -3'
(R):5'- TCCTTCAGCATCGTACAATTTG -3'

Sequencing Primer
(F):5'- GTCCGTTTGACAGCGCATCATG -3'
(R):5'- AGAAGCAATTTTCTGGTCATATTCC -3'
Posted On 2014-10-15