Incidental Mutation 'R1449:Slf1'
ID 159164
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 039504-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 77191207-77283592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77231568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 604 (S604P)
Ref Sequence ENSEMBL: ENSMUSP00000118312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151524]
AlphaFold Q8R3P9
Predicted Effect probably damaging
Transcript: ENSMUST00000151524
AA Change: S604P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: S604P

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,666 (GRCm39) N274D possibly damaging Het
6430571L13Rik T A 9: 107,219,689 (GRCm39) N47K probably damaging Het
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Abca13 A G 11: 9,248,580 (GRCm39) T2776A probably damaging Het
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adrb3 G A 8: 27,717,415 (GRCm39) R345C probably damaging Het
Ak7 T C 12: 105,708,520 (GRCm39) V325A possibly damaging Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
Bend6 T C 1: 33,917,424 (GRCm39) N10S probably benign Het
Bmpr1b T C 3: 141,577,134 (GRCm39) E59G possibly damaging Het
Brd3 A G 2: 27,340,263 (GRCm39) probably null Het
Brd3 A G 2: 27,347,028 (GRCm39) Y369H probably damaging Het
Cacna1e C T 1: 154,361,408 (GRCm39) probably null Het
Camk4 A G 18: 33,072,528 (GRCm39) D27G probably damaging Het
Camkk1 T G 11: 72,924,710 (GRCm39) S308A probably damaging Het
Catsperb A G 12: 101,554,456 (GRCm39) T717A probably benign Het
Cdh23 A T 10: 60,212,730 (GRCm39) S1563R probably damaging Het
Cep44 A T 8: 56,993,985 (GRCm39) S197R probably benign Het
Col3a1 T A 1: 45,360,771 (GRCm39) I67N unknown Het
Dcaf12l1 T C X: 43,878,304 (GRCm39) T165A probably benign Het
Dicer1 T C 12: 104,695,502 (GRCm39) Y143C possibly damaging Het
Dlg5 A G 14: 24,185,711 (GRCm39) I1898T possibly damaging Het
Dnah1 T C 14: 30,985,908 (GRCm39) N3762D probably damaging Het
Dscaml1 A T 9: 45,653,521 (GRCm39) T1382S possibly damaging Het
Entpd3 A T 9: 120,395,555 (GRCm39) R513W probably damaging Het
Foxred1 A G 9: 35,120,738 (GRCm39) S132P probably damaging Het
Ftsj3 T C 11: 106,143,826 (GRCm39) I273V probably benign Het
Hsd17b7 C T 1: 169,787,251 (GRCm39) probably null Het
Iars1 T A 13: 49,887,186 (GRCm39) V1253D probably damaging Het
Iqsec1 T A 6: 90,667,790 (GRCm39) K216* probably null Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kcnk2 G A 1: 189,072,223 (GRCm39) S35L probably benign Het
Kif13a T C 13: 46,966,212 (GRCm39) Y402C probably damaging Het
Lamc1 A G 1: 153,126,241 (GRCm39) S484P probably benign Het
Lap3 T C 5: 45,666,861 (GRCm39) probably null Het
Lhx8 G T 3: 154,033,742 (GRCm39) S46* probably null Het
Lin7a T C 10: 107,159,813 (GRCm39) S42P probably damaging Het
Lrba G A 3: 86,261,585 (GRCm39) R1513Q probably damaging Het
Maml2 C A 9: 13,531,980 (GRCm39) P398Q possibly damaging Het
Mast2 T C 4: 116,166,210 (GRCm39) I1201V probably damaging Het
Mmp20 A T 9: 7,642,769 (GRCm39) D201V probably damaging Het
Morn5 T A 2: 35,947,092 (GRCm39) C123* probably null Het
Mrpl4 A G 9: 20,918,807 (GRCm39) K175E possibly damaging Het
Nav3 A T 10: 109,689,372 (GRCm39) S302T probably benign Het
Ndrg2 T C 14: 52,145,591 (GRCm39) Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Het
Nlrp9b A T 7: 19,757,089 (GRCm39) T109S possibly damaging Het
Npepps A G 11: 97,097,980 (GRCm39) Y909H probably benign Het
Or10g1 A G 14: 52,648,024 (GRCm39) C102R probably damaging Het
Or11g7 A G 14: 50,691,378 (GRCm39) N290D probably damaging Het
Or51a25 A T 7: 102,373,397 (GRCm39) F100Y probably damaging Het
Or6c211 T A 10: 129,506,238 (GRCm39) D50V probably damaging Het
Or6c69b A C 10: 129,626,723 (GRCm39) V245G probably damaging Het
Pcdh1 T C 18: 38,322,929 (GRCm39) H968R probably damaging Het
Pde1b T A 15: 103,433,470 (GRCm39) I296N probably damaging Het
Phldb1 T A 9: 44,627,930 (GRCm39) T172S probably benign Het
Plxdc2 T C 2: 16,665,592 (GRCm39) V215A possibly damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pou6f2 G T 13: 18,347,000 (GRCm39) Q31K probably damaging Het
Psd T A 19: 46,313,250 (GRCm39) Y40F probably damaging Het
Rnf126 T C 10: 79,597,448 (GRCm39) N155D probably benign Het
Rpl36-ps3 C A 12: 12,962,032 (GRCm39) noncoding transcript Het
Rrp15 C A 1: 186,468,465 (GRCm39) V184F possibly damaging Het
Rslcan18 G T 13: 67,250,164 (GRCm39) L24M possibly damaging Het
Sall1 A G 8: 89,759,111 (GRCm39) I331T probably benign Het
Slamf7 A T 1: 171,468,606 (GRCm39) N95K possibly damaging Het
Slc1a6 T C 10: 78,635,951 (GRCm39) Y339H probably damaging Het
Slc39a8 A G 3: 135,532,446 (GRCm39) N72D probably benign Het
Slfn4 C T 11: 83,079,819 (GRCm39) T110M probably benign Het
Tnpo1 T C 13: 99,015,220 (GRCm39) T116A probably damaging Het
Tor1b T C 2: 30,845,893 (GRCm39) I190T probably damaging Het
Ttn C A 2: 76,800,138 (GRCm39) E357* probably null Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Ube2i T C 17: 25,487,538 (GRCm39) D67G possibly damaging Het
Ubxn11 A G 4: 133,852,203 (GRCm39) E50G probably damaging Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 (GRCm39) T38A possibly damaging Het
Zfp236 A G 18: 82,664,130 (GRCm39) S552P 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
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'- TGATGGCTACATATACTTTCTATCCTCCCAAT -3'
(R):5'- CCCAGCCCATGAAGCCACTTTTAAT -3'

Sequencing Primer
(F):5'- acactgctgagttaataatgacaag -3'
(R):5'- ATCCTTCTCCTGTCAAAGTAAACC -3'
Posted On 2014-03-14