Incidental Mutation 'R6049:Smc1b'
ID 483473
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 044217-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R6049 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85005896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 336 (L336S)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068]
AlphaFold Q920F6
Predicted Effect probably damaging
Transcript: ENSMUST00000023068
AA Change: L336S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: L336S

DomainStartEndE-ValueType
Pfam:AAA_23 7 361 2e-10 PFAM
Pfam:AAA_21 27 372 7.2e-9 PFAM
low complexity region 422 437 N/A INTRINSIC
SMC_hinge 513 629 1.5e-23 SMART
PDB:1W1W|D 1046 1218 3e-42 PDB
Blast:AAA 1063 1217 5e-25 BLAST
SCOP:d1e69a_ 1114 1202 3e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105085
SMART Domains Protein: ENSMUSP00000100709
Gene: ENSMUSG00000078289

DomainStartEndE-ValueType
Pfam:Ribosomal_L23eN 13 64 1.4e-26 PFAM
Pfam:Ribosomal_L23 72 139 4e-18 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,088,520 (GRCm39) H229Y probably benign Het
Aadacl2fm2 A C 3: 59,659,570 (GRCm39) D341A probably damaging Het
Abcd2 A G 15: 91,062,439 (GRCm39) F500L probably benign Het
Adgb A G 10: 10,253,770 (GRCm39) L1190P probably damaging Het
Adgrv1 A G 13: 81,545,473 (GRCm39) V5604A probably benign Het
Ank2 T A 3: 126,736,669 (GRCm39) T3072S possibly damaging Het
Arhgap39 A G 15: 76,611,601 (GRCm39) probably null Het
C6 T C 15: 4,764,654 (GRCm39) C117R probably damaging Het
Cacna1a A G 8: 85,365,475 (GRCm39) E2206G probably damaging Het
Cd2bp2 A T 7: 126,793,007 (GRCm39) F338L probably damaging Het
Cemip2 A T 19: 21,803,490 (GRCm39) Q841L probably benign Het
Cngb1 T C 8: 95,997,470 (GRCm39) D575G probably damaging Het
Cplane2 T A 4: 140,945,473 (GRCm39) V108D probably benign Het
Crat A G 2: 30,293,553 (GRCm39) F63S probably damaging Het
Crybg3 T C 16: 59,364,417 (GRCm39) T2402A probably benign Het
Ctsq A G 13: 61,186,572 (GRCm39) probably null Het
Cux1 T C 5: 136,361,564 (GRCm39) R248G probably damaging Het
D7Ertd443e T C 7: 133,899,961 (GRCm39) H420R probably benign Het
Deup1 A G 9: 15,472,552 (GRCm39) F587L possibly damaging Het
Dnah6 T C 6: 73,063,149 (GRCm39) K2651R probably benign Het
Dnah7b A G 1: 46,124,762 (GRCm39) I144V probably benign Het
Dnajc1 T C 2: 18,236,511 (GRCm39) probably null Het
Fscb T C 12: 64,521,094 (GRCm39) N124S possibly damaging Het
Gabbr2 A G 4: 46,787,641 (GRCm39) Y341H probably damaging Het
Greb1 T A 12: 16,731,395 (GRCm39) I1648F probably damaging Het
Hace1 A T 10: 45,562,758 (GRCm39) N758Y probably damaging Het
Irs2 A C 8: 11,056,805 (GRCm39) D542E probably benign Het
Kat6a T A 8: 23,429,053 (GRCm39) H1469Q possibly damaging Het
Kif15 G A 9: 122,840,687 (GRCm39) R36K probably damaging Het
Krt42 C T 11: 100,157,886 (GRCm39) V193M probably damaging Het
Limch1 A T 5: 67,188,203 (GRCm39) E878V probably benign Het
Med18 G T 4: 132,187,024 (GRCm39) D158E probably benign Het
Med6 T C 12: 81,638,097 (GRCm39) N38S probably damaging Het
Mup13 T C 4: 61,183,596 (GRCm39) T76A probably benign Het
Nlrp4b T A 7: 10,448,640 (GRCm39) L281* probably null Het
Or5h23 A T 16: 58,906,509 (GRCm39) C112* probably null Het
Or7g28 C A 9: 19,272,640 (GRCm39) G4* probably null Het
Or9r3 A T 10: 129,948,481 (GRCm39) H59Q probably benign Het
Pde4d A T 13: 109,169,119 (GRCm39) R54* probably null Het
Pdpk1 A T 17: 24,317,109 (GRCm39) Y251* probably null Het
Pdzk1 A G 3: 96,758,979 (GRCm39) E128G probably benign Het
Phf12 A G 11: 77,918,996 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,748,884 (GRCm39) E63G possibly damaging Het
Prkcd T C 14: 30,329,254 (GRCm39) E62G possibly damaging Het
Prl7b1 G T 13: 27,790,161 (GRCm39) D77E probably benign Het
Rbck1 G T 2: 152,165,094 (GRCm39) C85* probably null Het
Rfx3 A T 19: 27,779,795 (GRCm39) M481K probably damaging Het
Rmdn3 A G 2: 118,983,906 (GRCm39) F159L probably damaging Het
Rpusd3 A C 6: 113,394,802 (GRCm39) probably null Het
Ska1 T C 18: 74,335,671 (GRCm39) T100A probably benign Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc27a6 T A 18: 58,731,732 (GRCm39) Y361N probably damaging Het
St7 A G 6: 17,694,347 (GRCm39) D46G possibly damaging Het
Supt5 A G 7: 28,014,622 (GRCm39) I1059T probably benign Het
Syne1 A T 10: 5,297,926 (GRCm39) S1124T possibly damaging Het
Szt2 A G 4: 118,260,185 (GRCm39) S54P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tbc1d7 A C 13: 43,312,836 (GRCm39) M19R probably damaging Het
Tbpl2 T C 2: 23,985,004 (GRCm39) N47D possibly damaging Het
Tgfbr3 C T 5: 107,266,351 (GRCm39) A790T probably damaging Het
Tnr T C 1: 159,740,324 (GRCm39) V1166A probably damaging Het
Ttn G A 2: 76,676,654 (GRCm39) probably benign Het
Other mutations in Smc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Smc1b APN 15 85,013,901 (GRCm39) missense possibly damaging 0.95
IGL01293:Smc1b APN 15 85,016,099 (GRCm39) missense probably damaging 1.00
IGL01656:Smc1b APN 15 84,998,977 (GRCm39) missense probably damaging 0.99
IGL01807:Smc1b APN 15 84,980,946 (GRCm39) missense probably damaging 0.97
IGL02094:Smc1b APN 15 84,982,092 (GRCm39) splice site probably benign
IGL02121:Smc1b APN 15 84,982,186 (GRCm39) missense probably benign
IGL02631:Smc1b APN 15 84,991,204 (GRCm39) missense probably damaging 0.98
IGL02678:Smc1b APN 15 84,949,201 (GRCm39) nonsense probably null
IGL03197:Smc1b APN 15 84,955,064 (GRCm39) missense possibly damaging 0.85
IGL03214:Smc1b APN 15 84,982,147 (GRCm39) nonsense probably null
IGL03218:Smc1b APN 15 84,973,914 (GRCm39) missense probably benign 0.07
IGL03232:Smc1b APN 15 85,013,921 (GRCm39) missense possibly damaging 0.68
adamantine UTSW 15 85,005,842 (GRCm39) missense probably benign 0.06
unbreakable UTSW 15 84,980,859 (GRCm39) missense probably benign
E0370:Smc1b UTSW 15 85,011,782 (GRCm39) missense probably damaging 1.00
PIT4812001:Smc1b UTSW 15 84,953,852 (GRCm39) missense possibly damaging 0.91
R0092:Smc1b UTSW 15 84,951,925 (GRCm39) unclassified probably benign
R0106:Smc1b UTSW 15 84,955,020 (GRCm39) missense probably damaging 1.00
R0106:Smc1b UTSW 15 84,955,020 (GRCm39) missense probably damaging 1.00
R0207:Smc1b UTSW 15 85,007,960 (GRCm39) missense probably benign
R0390:Smc1b UTSW 15 84,950,478 (GRCm39) missense probably damaging 1.00
R0440:Smc1b UTSW 15 84,996,874 (GRCm39) splice site probably benign
R0685:Smc1b UTSW 15 84,955,021 (GRCm39) missense possibly damaging 0.92
R1109:Smc1b UTSW 15 84,997,016 (GRCm39) missense probably damaging 0.98
R1392:Smc1b UTSW 15 84,991,271 (GRCm39) splice site probably benign
R1509:Smc1b UTSW 15 84,970,335 (GRCm39) missense probably benign
R1804:Smc1b UTSW 15 85,011,991 (GRCm39) missense possibly damaging 0.90
R1879:Smc1b UTSW 15 84,976,268 (GRCm39) missense probably benign 0.01
R2086:Smc1b UTSW 15 85,006,052 (GRCm39) splice site probably benign
R2143:Smc1b UTSW 15 85,008,003 (GRCm39) missense probably benign
R2158:Smc1b UTSW 15 85,006,052 (GRCm39) splice site probably benign
R2174:Smc1b UTSW 15 85,006,052 (GRCm39) splice site probably benign
R2471:Smc1b UTSW 15 84,976,218 (GRCm39) missense probably damaging 0.98
R3689:Smc1b UTSW 15 85,001,464 (GRCm39) intron probably benign
R3690:Smc1b UTSW 15 85,001,464 (GRCm39) intron probably benign
R4178:Smc1b UTSW 15 85,004,848 (GRCm39) missense possibly damaging 0.94
R4420:Smc1b UTSW 15 84,997,031 (GRCm39) missense probably damaging 1.00
R4905:Smc1b UTSW 15 84,950,428 (GRCm39) missense probably damaging 1.00
R4919:Smc1b UTSW 15 85,001,305 (GRCm39) intron probably benign
R5114:Smc1b UTSW 15 84,949,185 (GRCm39) missense probably damaging 1.00
R5314:Smc1b UTSW 15 84,955,066 (GRCm39) missense probably benign 0.00
R5476:Smc1b UTSW 15 84,970,352 (GRCm39) missense probably damaging 0.97
R5593:Smc1b UTSW 15 85,005,842 (GRCm39) missense probably benign 0.06
R5690:Smc1b UTSW 15 84,996,974 (GRCm39) missense probably damaging 1.00
R5719:Smc1b UTSW 15 84,980,859 (GRCm39) missense probably benign
R5817:Smc1b UTSW 15 84,951,984 (GRCm39) missense probably damaging 0.99
R5834:Smc1b UTSW 15 84,973,866 (GRCm39) missense probably damaging 1.00
R5930:Smc1b UTSW 15 84,970,322 (GRCm39) missense probably damaging 1.00
R6032:Smc1b UTSW 15 84,950,430 (GRCm39) missense possibly damaging 0.92
R6032:Smc1b UTSW 15 84,950,430 (GRCm39) missense possibly damaging 0.92
R6306:Smc1b UTSW 15 85,011,824 (GRCm39) missense probably benign 0.30
R6392:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6426:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6435:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6436:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6437:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6508:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6512:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6703:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6737:Smc1b UTSW 15 84,976,232 (GRCm39) missense probably benign 0.03
R6775:Smc1b UTSW 15 84,973,881 (GRCm39) missense probably damaging 0.96
R6889:Smc1b UTSW 15 84,951,960 (GRCm39) missense probably damaging 1.00
R6908:Smc1b UTSW 15 84,991,211 (GRCm39) missense probably damaging 1.00
R7124:Smc1b UTSW 15 84,955,798 (GRCm39) missense probably damaging 0.98
R7400:Smc1b UTSW 15 84,953,921 (GRCm39) missense probably damaging 1.00
R7417:Smc1b UTSW 15 84,981,743 (GRCm39) missense probably benign 0.05
R7610:Smc1b UTSW 15 84,955,021 (GRCm39) missense possibly damaging 0.92
R7873:Smc1b UTSW 15 84,994,851 (GRCm39) critical splice donor site probably null
R7890:Smc1b UTSW 15 84,950,529 (GRCm39) missense probably damaging 1.00
R8004:Smc1b UTSW 15 84,981,815 (GRCm39) missense probably damaging 0.98
R8698:Smc1b UTSW 15 84,997,047 (GRCm39) missense probably benign 0.16
R8826:Smc1b UTSW 15 84,950,529 (GRCm39) missense probably damaging 1.00
R8835:Smc1b UTSW 15 85,013,949 (GRCm39) missense possibly damaging 0.83
R8925:Smc1b UTSW 15 84,991,273 (GRCm39) splice site probably null
R9059:Smc1b UTSW 15 85,004,875 (GRCm39) nonsense probably null
R9149:Smc1b UTSW 15 84,950,431 (GRCm39) missense probably benign 0.00
R9241:Smc1b UTSW 15 84,976,209 (GRCm39) missense probably benign 0.00
R9245:Smc1b UTSW 15 85,004,846 (GRCm39) missense probably benign 0.03
R9301:Smc1b UTSW 15 85,011,995 (GRCm39) missense probably damaging 0.98
R9384:Smc1b UTSW 15 84,950,455 (GRCm39) missense probably damaging 0.99
R9750:Smc1b UTSW 15 85,016,106 (GRCm39) missense probably damaging 1.00
Z1176:Smc1b UTSW 15 85,016,104 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATTTAGATTCGGTGGACAGATTTA -3'
(R):5'- GCCTAACAATCTCTGCAAGCTAATTT -3'

Sequencing Primer
(F):5'- TCACCTGGCTATTTTCCAA -3'
(R):5'- CTTCCAGTATAACAGGGGGTTAC -3'
Posted On 2017-07-14