Incidental Mutation 'R0614:Slf1'
ID 54970
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 038803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 77191207-77283592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77197233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 794 (M794L)
Ref Sequence ENSEMBL: ENSMUSP00000118312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151524]
AlphaFold Q8R3P9
Predicted Effect probably benign
Transcript: ENSMUST00000151524
AA Change: M794L

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: M794L

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
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V 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
R0244:Slf1 UTSW 13 77,274,751 (GRCm39) nonsense probably null
R0395:Slf1 UTSW 13 77,254,088 (GRCm39) splice site probably benign
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'- AGAAGACACTGATTCTAAGCAGCACAG -3'
(R):5'- GGCCTGCACTCTAATGTAACTTTCAGC -3'

Sequencing Primer
(F):5'- TTCTAAGCAGCACAGGTTGATG -3'
(R):5'- AGCTGACTTTACTCTAAAGGCTGG -3'
Posted On 2013-07-11