Incidental Mutation 'R1879:Smc1b'
ID 211433
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 039900-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R1879 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84976268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 813 (Q813L)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068] [ENSMUST00000227591]
AlphaFold Q920F6
Predicted Effect probably benign
Transcript: ENSMUST00000023068
AA Change: Q813L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: Q813L

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 probably benign
Transcript: ENSMUST00000227591
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,686,488 (GRCm39) D268G possibly damaging Het
Abce1 T C 8: 80,414,085 (GRCm39) N542S probably benign Het
Abcf1 T A 17: 36,272,704 (GRCm39) E260D probably benign Het
Ahcy A G 2: 154,906,072 (GRCm39) probably null Het
Akap13 C T 7: 75,260,475 (GRCm39) A1033V probably benign Het
Alkbh6 A G 7: 30,011,320 (GRCm39) N46S probably damaging Het
Ankrd34c A C 9: 89,612,126 (GRCm39) L72V probably damaging Het
Arf4 T A 14: 26,368,076 (GRCm39) N25K probably damaging Het
Arhgef4 A G 1: 34,761,521 (GRCm39) D259G unknown Het
Cavin1 C A 11: 100,861,036 (GRCm39) G86V probably damaging Het
Ces1d G A 8: 93,916,126 (GRCm39) T167I probably benign Het
Cfb T C 17: 35,079,536 (GRCm39) I754V probably benign Het
Clcnkb C T 4: 141,135,130 (GRCm39) R536H possibly damaging Het
Clpb T G 7: 101,355,690 (GRCm39) S181R probably benign Het
Col1a1 T C 11: 94,842,051 (GRCm39) M1366T unknown Het
Cped1 T A 6: 22,085,014 (GRCm39) probably null Het
Crip1 G A 12: 113,116,952 (GRCm39) C82Y probably damaging Het
Csmd3 T C 15: 47,520,915 (GRCm39) T2810A possibly damaging Het
Cyp2b9 A T 7: 25,897,994 (GRCm39) D266V probably damaging Het
Cyp46a1 A G 12: 108,319,385 (GRCm39) D294G probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dst A G 1: 34,227,924 (GRCm39) E1514G probably benign Het
Dync1h1 A G 12: 110,591,070 (GRCm39) E1046G probably benign Het
Eya2 T C 2: 165,506,726 (GRCm39) V4A probably benign Het
Frem3 A T 8: 81,338,567 (GRCm39) R287* probably null Het
Fuca2 T A 10: 13,383,000 (GRCm39) C323S possibly damaging Het
Ggt7 T C 2: 155,356,707 (GRCm39) E4G possibly damaging Het
Gli1 C T 10: 127,169,606 (GRCm39) R383H probably damaging Het
Gm4559 C A 7: 141,827,998 (GRCm39) V35F unknown Het
Gpm6a T A 8: 55,490,365 (GRCm39) C14S probably damaging Het
Hcn2 A T 10: 79,562,023 (GRCm39) I340F probably benign Het
Hdac9 T A 12: 34,440,332 (GRCm39) D349V probably damaging Het
Krt34 T C 11: 99,929,118 (GRCm39) D364G possibly damaging Het
Mon2 C T 10: 122,838,790 (GRCm39) R1565H probably damaging Het
Myb T A 10: 21,017,876 (GRCm39) M482L probably benign Het
Nckap1l A T 15: 103,373,028 (GRCm39) I294F probably benign Het
Nr2e1 A G 10: 42,444,367 (GRCm39) probably null Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or1r1 T A 11: 73,875,368 (GRCm39) D22V probably benign Het
Or4k38 A T 2: 111,165,808 (GRCm39) I205N possibly damaging Het
Or52h7 T C 7: 104,214,118 (GRCm39) V230A possibly damaging Het
Pde8b A T 13: 95,221,723 (GRCm39) I308N possibly damaging Het
Pdzd2 T C 15: 12,373,986 (GRCm39) R2050G possibly damaging Het
Phc3 C A 3: 30,968,607 (GRCm39) S840I probably damaging Het
Piezo2 T A 18: 63,247,031 (GRCm39) Y327F probably damaging Het
Pnliprp1 A T 19: 58,732,516 (GRCm39) I460F probably benign Het
Pphln1 T G 15: 93,321,927 (GRCm39) D35E probably damaging Het
Prdm6 G A 18: 53,701,289 (GRCm39) V360I probably damaging Het
Rab35 T A 5: 115,778,219 (GRCm39) W62R probably damaging Het
Sct G T 7: 140,858,612 (GRCm39) P70Q probably damaging Het
Sdf4 A G 4: 156,094,304 (GRCm39) N328S probably damaging Het
Senp5 A T 16: 31,802,642 (GRCm39) S488R probably damaging Het
Serpina3n A G 12: 104,375,213 (GRCm39) E95G probably benign Het
Sfswap C T 5: 129,618,392 (GRCm39) A442V probably benign Het
Sgcd T C 11: 47,246,068 (GRCm39) I45V probably benign Het
Sgcg T C 14: 61,474,346 (GRCm39) probably null Het
Slc39a12 G T 2: 14,448,868 (GRCm39) V489L probably benign Het
Slc5a11 T A 7: 122,838,671 (GRCm39) I96N possibly damaging Het
Slc6a12 A G 6: 121,324,382 (GRCm39) D2G probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Smarcd3 C A 5: 24,798,019 (GRCm39) C465F probably damaging Het
Spag1 G A 15: 36,181,916 (GRCm39) E25K probably damaging Het
Sptan1 A T 2: 29,885,540 (GRCm39) N715I probably damaging Het
Tas1r2 T A 4: 139,397,006 (GRCm39) Y782N probably damaging Het
Thap3 A T 4: 152,067,593 (GRCm39) C162S probably benign Het
Topaz1 T A 9: 122,578,684 (GRCm39) D531E possibly damaging Het
Vmn1r25 C T 6: 57,955,912 (GRCm39) A126T possibly damaging Het
Zfhx2 A G 14: 55,303,074 (GRCm39) F1637L probably benign Het
Zfhx2 T C 14: 55,310,206 (GRCm39) Y780C possibly damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp956 A T 6: 47,940,678 (GRCm39) T346S probably benign Het
Zkscan1 C T 5: 138,095,410 (GRCm39) A219V probably damaging 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
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
R6049:Smc1b UTSW 15 85,005,896 (GRCm39) missense probably damaging 1.00
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'- AGAAGCCATAACTTCAACGAACTGG -3'
(R):5'- GGCAATGGCAGTGATTATATTAAGG -3'

Sequencing Primer
(F):5'- GAACTGGCACTTCAGCTACTG -3'
(R):5'- CAGAGAACACTTACTGCTCTTGGAG -3'
Posted On 2014-06-30