Incidental Mutation 'R8385:Slf1'
ID 647134
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 067751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8385 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 77191207-77283592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77254109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 243 (M243V)
Ref Sequence ENSEMBL: ENSMUSP00000124543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151524] [ENSMUST00000159300] [ENSMUST00000159462] [ENSMUST00000162921] [ENSMUST00000162944]
AlphaFold Q8R3P9
Predicted Effect probably benign
Transcript: ENSMUST00000151524
AA Change: M237V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: M237V

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 benign
Transcript: ENSMUST00000159300
AA Change: M237V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: M237V

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 benign
Transcript: ENSMUST00000159462
AA Change: M243V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: M243V

DomainStartEndE-ValueType
BRCT 8 86 1.37e-2 SMART
BRCT 127 205 2.12e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162921
SMART Domains Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597

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

DomainStartEndE-ValueType
BRCT 2 80 1.37e-2 SMART
Blast:BRCT 121 173 1e-8 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brap C T 5: 121,823,197 (GRCm39) T473I probably benign Het
Cacna1e T A 1: 154,319,687 (GRCm39) M1400L probably damaging Het
Catsper2 A G 2: 121,240,621 (GRCm39) I127T possibly damaging Het
Dbt A T 3: 116,317,039 (GRCm39) I72F probably damaging Het
Ddhd2 T C 8: 26,225,041 (GRCm39) H592R probably damaging Het
Disp2 T A 2: 118,620,891 (GRCm39) M541K probably damaging Het
Dnai7 C T 6: 145,120,918 (GRCm39) E685K probably damaging Het
Dnmbp T C 19: 43,878,090 (GRCm39) D327G probably benign Het
Dvl1 A G 4: 155,940,037 (GRCm39) S390G possibly damaging Het
Fbxo22 A G 9: 55,121,233 (GRCm39) D106G probably damaging Het
Gfm2 A G 13: 97,301,519 (GRCm39) T441A probably benign Het
Gm5431 T C 11: 48,780,347 (GRCm39) I192V probably damaging Het
Gosr1 T A 11: 76,620,967 (GRCm39) T241S possibly damaging Het
Hk2 T C 6: 82,706,527 (GRCm39) S792G probably benign Het
Itsn1 A C 16: 91,690,699 (GRCm39) K1302Q unknown Het
Kif16b T C 2: 142,554,258 (GRCm39) K847E probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mark3 A G 12: 111,621,808 (GRCm39) D650G possibly damaging Het
Mgat4f A G 1: 134,318,376 (GRCm39) K383E probably benign Het
Mob3b T C 4: 34,985,980 (GRCm39) Y186C probably damaging Het
Mphosph9 T C 5: 124,450,785 (GRCm39) K329E probably benign Het
Mta1 A T 12: 113,095,085 (GRCm39) M448L probably benign Het
Mterf1a A T 5: 3,941,384 (GRCm39) N161K probably damaging Het
Myo10 T A 15: 25,804,484 (GRCm39) I1593N probably damaging Het
Naca A G 10: 127,878,307 (GRCm39) N1113S unknown Het
Or2w4 T C 13: 21,795,522 (GRCm39) I206V probably benign Het
Or5e1 T G 7: 108,354,511 (GRCm39) Y149* probably null Het
Pcdhga1 A T 18: 37,795,149 (GRCm39) D51V probably damaging Het
Peg3 T C 7: 6,711,082 (GRCm39) E1380G probably damaging Het
Pkd1 G A 17: 24,794,702 (GRCm39) V2130M possibly damaging Het
Pla2g4c C T 7: 13,063,589 (GRCm39) P19S probably benign Het
Popdc2 G A 16: 38,183,262 (GRCm39) V82I probably benign Het
Ppfibp2 A G 7: 107,296,894 (GRCm39) R203G probably benign Het
Rab19 T A 6: 39,360,892 (GRCm39) N13K probably benign Het
Raet1d T A 10: 22,246,817 (GRCm39) D48E probably benign Het
Rell1 T A 5: 64,087,861 (GRCm39) K136* probably null Het
Slc38a4 A G 15: 96,897,393 (GRCm39) I474T probably damaging Het
Spata31f1a C T 4: 42,850,509 (GRCm39) R549H possibly damaging Het
Speer4c2 A T 5: 15,857,669 (GRCm39) S203T unknown Het
Spg11 A T 2: 121,927,802 (GRCm39) S661T probably benign Het
Thra C G 11: 98,659,177 (GRCm39) S435R probably benign Het
Tmem181a T C 17: 6,339,274 (GRCm39) I61T probably benign Het
Ttpa G A 4: 20,028,483 (GRCm39) G247S probably damaging Het
Usp17lb C T 7: 104,489,830 (GRCm39) V366I possibly damaging Het
Vit A T 17: 78,927,066 (GRCm39) Q337L probably benign Het
Vmn2r102 A G 17: 19,914,088 (GRCm39) Y551C possibly damaging Het
Vps52 T C 17: 34,181,791 (GRCm39) L539P probably damaging Het
Ythdc1 C A 5: 86,975,961 (GRCm39) P529T possibly damaging Het
Zdhhc13 T C 7: 48,455,444 (GRCm39) probably null Het
Zfp282 A T 6: 47,882,023 (GRCm39) Y570F possibly damaging Het
Zfp872 A T 9: 22,111,407 (GRCm39) K295N probably 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
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
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'- GGGGCCTAAAACATAGACCTAC -3'
(R):5'- GCAGTATTTTACCAGTGTTTAGTAGCC -3'

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