Incidental Mutation 'R0244:Slf1'
ID 38005
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 038482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0244 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 77191207-77283592 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 77274751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 28 (L28*)
Ref Sequence ENSEMBL: ENSMUSP00000123982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151524] [ENSMUST00000159300] [ENSMUST00000159462] [ENSMUST00000162921] [ENSMUST00000162944]
AlphaFold Q8R3P9
Predicted Effect probably null
Transcript: ENSMUST00000151524
AA Change: L28*
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: L28*

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: ENSMUST00000159300
AA Change: L28*
SMART Domains Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: L28*

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
BRCT 121 199 2.12e1 SMART
low complexity region 260 273 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159462
AA Change: L34*
SMART Domains Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: L34*

DomainStartEndE-ValueType
BRCT 8 86 1.37e-2 SMART
BRCT 127 205 2.12e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162320
Predicted Effect probably null
Transcript: ENSMUST00000162921
AA Change: L28*
SMART Domains Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597
AA Change: L28*

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
Blast:BRCT 121 173 1e-8 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000162944
AA Change: L28*
SMART Domains Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597
AA Change: L28*

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
Blast:BRCT 121 173 1e-8 BLAST
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (88/89)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,806,172 (GRCm39) C434* probably null Het
Adprhl1 A G 8: 13,292,391 (GRCm39) probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Arel1 T C 12: 84,967,467 (GRCm39) T786A probably damaging Het
Arhgap26 A G 18: 39,496,184 (GRCm39) K117R probably benign Het
Atp6v0b C T 4: 117,741,819 (GRCm39) G204D probably damaging Het
Bace2 T A 16: 97,237,973 (GRCm39) probably null Het
Bltp2 T A 11: 78,177,317 (GRCm39) probably null Het
Camk4 G A 18: 33,312,678 (GRCm39) probably null Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cep152 T C 2: 125,406,134 (GRCm39) E1466G probably benign Het
Ces3b T C 8: 105,819,267 (GRCm39) F441S probably damaging Het
Cfap52 T C 11: 67,817,208 (GRCm39) T562A possibly damaging Het
Clca3a2 C A 3: 144,519,659 (GRCm39) M238I possibly damaging Het
Cntnap5c A T 17: 58,409,163 (GRCm39) D467V probably damaging Het
Col7a1 T A 9: 108,801,252 (GRCm39) probably null Het
Cstf1 A G 2: 172,219,630 (GRCm39) N247S possibly damaging Het
Dffb G T 4: 154,059,072 (GRCm39) N68K probably benign Het
Dnaaf10 T C 11: 17,179,851 (GRCm39) L284P probably damaging Het
Duox2 C T 2: 122,122,341 (GRCm39) G595S probably benign Het
Eftud2 T A 11: 102,755,551 (GRCm39) I228F probably damaging Het
Elmo3 T C 8: 106,035,803 (GRCm39) V578A probably benign Het
Elp2 A G 18: 24,764,528 (GRCm39) D625G possibly damaging Het
Ep300 C T 15: 81,524,329 (GRCm39) P1386S unknown Het
Fam120b A G 17: 15,637,899 (GRCm39) D610G probably damaging Het
Fastk A T 5: 24,647,176 (GRCm39) probably benign Het
Fbxl6 A G 15: 76,421,391 (GRCm39) S252P probably damaging Het
Fbxo43 T C 15: 36,161,939 (GRCm39) K423E probably damaging Het
Filip1 T A 9: 79,726,744 (GRCm39) E625V possibly damaging Het
Fkbp9 T A 6: 56,833,363 (GRCm39) Y283* probably null Het
Gigyf2 T A 1: 87,306,737 (GRCm39) D142E possibly damaging Het
Gm10142 T C 10: 77,551,848 (GRCm39) probably null Het
Golga5 T C 12: 102,442,447 (GRCm39) V262A probably benign Het
Hectd4 T C 5: 121,467,668 (GRCm39) V2539A probably benign Het
Ica1 G T 6: 8,653,632 (GRCm39) S335* probably null Het
Itga1 A T 13: 115,143,433 (GRCm39) probably benign Het
Itgb1 T C 8: 129,444,166 (GRCm39) probably benign Het
Itpr1 G A 6: 108,450,550 (GRCm39) V1960I probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kprp C T 3: 92,732,718 (GRCm39) V111I probably benign Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Lcp1 A T 14: 75,464,441 (GRCm39) D554V possibly damaging Het
Lgi3 A G 14: 70,772,138 (GRCm39) T228A probably benign Het
Lipa A T 19: 34,478,941 (GRCm39) F260I probably damaging Het
Lrriq1 C T 10: 103,051,634 (GRCm39) E373K probably damaging Het
Map6 G A 7: 98,986,043 (GRCm39) G649D probably benign Het
Mccc1 A G 3: 36,044,196 (GRCm39) probably null Het
Mical3 A T 6: 120,934,683 (GRCm39) S1799T probably benign Het
Mmp23 T A 4: 155,736,589 (GRCm39) T151S probably damaging Het
Myo1d T A 11: 80,565,534 (GRCm39) N401I probably damaging Het
Myo9b T A 8: 71,774,457 (GRCm39) S323T probably damaging Het
Nbn G T 4: 15,979,353 (GRCm39) W446L probably benign Het
Nedd1 A T 10: 92,552,127 (GRCm39) probably benign Het
Ngef C A 1: 87,415,684 (GRCm39) probably benign Het
Nup153 A T 13: 46,847,412 (GRCm39) N672K probably benign Het
Or10d1b T A 9: 39,613,469 (GRCm39) I199F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or4e2 T C 14: 52,687,969 (GRCm39) V33A probably benign Het
Or4f57 T C 2: 111,791,361 (GRCm39) N19S probably benign Het
Pakap T G 4: 57,710,177 (GRCm39) V374G possibly damaging Het
Pdlim3 C A 8: 46,361,497 (GRCm39) probably benign Het
Pmfbp1 G A 8: 110,268,305 (GRCm39) E951K probably damaging Het
Pop1 T A 15: 34,516,037 (GRCm39) C548* probably null Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ptpdc1 A T 13: 48,739,456 (GRCm39) N658K probably benign Het
Ptprk A C 10: 28,082,221 (GRCm39) E63D possibly damaging Het
Rtf1 C T 2: 119,563,358 (GRCm39) R712W probably damaging Het
Samd7 A C 3: 30,805,222 (GRCm39) T2P probably benign Het
Sft2d1 A G 17: 8,538,254 (GRCm39) T52A probably benign Het
Slc25a26 A G 6: 94,487,814 (GRCm39) H91R probably damaging Het
Slc5a4a A G 10: 76,024,986 (GRCm39) E621G possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorcs2 G A 5: 36,554,897 (GRCm39) probably benign Het
Tacc2 T C 7: 130,353,555 (GRCm39) probably benign Het
Tas2r140 A G 6: 133,032,290 (GRCm39) V156A possibly damaging Het
Terf2ip C A 8: 112,744,796 (GRCm39) T371K possibly damaging Het
Tifa C T 3: 127,590,537 (GRCm39) L103F probably damaging Het
Tmco3 A G 8: 13,342,037 (GRCm39) N104D probably damaging Het
Tmem259 T A 10: 79,814,797 (GRCm39) D240V probably damaging Het
Trim60 C T 8: 65,453,700 (GRCm39) R183H probably benign Het
Trps1 T C 15: 50,528,139 (GRCm39) N725D probably damaging Het
Ttn C T 2: 76,645,150 (GRCm39) V12902M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Unc79 A G 12: 103,079,150 (GRCm39) K1772E probably damaging Het
Vwde C T 6: 13,193,125 (GRCm39) V405I probably benign Het
Wdr18 T A 10: 79,802,242 (GRCm39) D290E probably damaging Het
Wwc2 G A 8: 48,353,756 (GRCm39) A126V probably benign Het
Zfp882 A T 8: 72,667,367 (GRCm39) I105F possibly damaging Het
Zfp942 A T 17: 22,147,553 (GRCm39) C359S probably benign 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
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
R2217:Slf1 UTSW 13 77,194,825 (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'- TTTCTGAAGGGAAGAACCCACATCAAG -3'
(R):5'- ACTGGAGGGTTTCAATGGTGAAACAAC -3'

Sequencing Primer
(F):5'- CCACATCAAGCAATATTACTACAGAG -3'
(R):5'- ATGGTTTTAGTTTCATTTTAGTGCTC -3'
Posted On 2013-05-23