Incidental Mutation 'R8004:Smc1b'
ID 616539
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 046044-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R8004 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84981815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 735 (S735F)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068]
AlphaFold Q920F6
Predicted Effect probably damaging
Transcript: ENSMUST00000023068
AA Change: S735F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: S735F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 12,021,286 (GRCm39) probably benign Het
Abcb11 T A 2: 69,087,554 (GRCm39) K1070N possibly damaging Het
Ankrd24 T A 10: 81,474,191 (GRCm39) N179K unknown Het
Atp6v0a4 A T 6: 38,027,484 (GRCm39) F775L possibly damaging Het
Bbs2 A G 8: 94,809,118 (GRCm39) V269A possibly damaging Het
Bpifc T G 10: 85,815,148 (GRCm39) S273R probably benign Het
Cdan1 C T 2: 120,561,924 (GRCm39) R20Q unknown Het
Cfap251 T C 5: 123,392,513 (GRCm39) W216R unknown Het
Chrm2 T A 6: 36,500,221 (GRCm39) I26N probably damaging Het
Cngb3 A G 4: 19,505,273 (GRCm39) K669E possibly damaging Het
Cnot1 T C 8: 96,479,380 (GRCm39) I876V probably benign Het
Col12a1 T A 9: 79,591,683 (GRCm39) T926S probably damaging Het
Cyp2b23 G T 7: 26,378,891 (GRCm39) T191K probably benign Het
Dipk1a T C 5: 108,057,532 (GRCm39) D342G probably damaging Het
Dpp4 A G 2: 62,189,172 (GRCm39) V453A probably benign Het
Eif2ak4 T C 2: 118,247,775 (GRCm39) S271P possibly damaging Het
Fbxw20 G T 9: 109,050,449 (GRCm39) P392H probably damaging Het
Fcho2 T A 13: 98,926,013 (GRCm39) E118V possibly damaging Het
Gm2042 C G 12: 87,926,921 (GRCm39) Q413E possibly damaging Het
Gm904 G A 13: 50,799,343 (GRCm39) probably null Het
H2-D1 A G 17: 35,485,672 (GRCm39) S352G probably benign Het
Igf2bp3 C A 6: 49,067,954 (GRCm39) V451L probably benign Het
Igkv1-99 T C 6: 68,519,112 (GRCm39) V23A Het
Igsf10 A G 3: 59,237,130 (GRCm39) I1017T probably benign Het
Il18r1 G A 1: 40,513,917 (GRCm39) C41Y probably damaging Het
Itgb4 A G 11: 115,873,531 (GRCm39) D249G probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrn2 T A 1: 132,865,489 (GRCm39) F185I probably damaging Het
Mllt6 G T 11: 97,566,966 (GRCm39) E635D possibly damaging Het
Msh6 A G 17: 88,294,215 (GRCm39) E990G probably damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Nfatc2ip A G 7: 125,989,577 (GRCm39) V269A possibly damaging Het
Nfkb1 C A 3: 135,297,312 (GRCm39) probably benign Het
Nol12 A T 15: 78,824,717 (GRCm39) K181N probably damaging Het
Npl T A 1: 153,379,286 (GRCm39) T266S probably benign Het
Oog2 A T 4: 143,920,821 (GRCm39) I85L probably benign Het
Or5k3 T A 16: 58,969,351 (GRCm39) V46E probably damaging Het
Or7e171-ps1 A T 9: 19,853,408 (GRCm39) D109E possibly damaging Het
Parm1 A C 5: 91,742,132 (GRCm39) S167R probably benign Het
Pcsk4 T C 10: 80,158,674 (GRCm39) D526G probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Psmd9 T C 5: 123,379,998 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,749,242 (GRCm39) V1220A probably damaging Het
Rbm25 A T 12: 83,721,166 (GRCm39) E577D possibly damaging Het
Rbm44 T A 1: 91,079,880 (GRCm39) probably benign Het
S100a6 T C 3: 90,521,119 (GRCm39) F16L probably benign Het
Sar1a C A 10: 61,520,945 (GRCm39) H53Q probably benign Het
Setd2 G A 9: 110,421,613 (GRCm39) A282T Het
Slc35f5 A T 1: 125,517,624 (GRCm39) H474L probably damaging Het
Slc4a3 T C 1: 75,525,711 (GRCm39) probably null Het
Sp3 A T 2: 72,800,552 (GRCm39) I531K possibly damaging Het
St6galnac5 A T 3: 152,545,802 (GRCm39) M252K probably damaging Het
Tas2r120 T A 6: 132,634,390 (GRCm39) H157Q possibly damaging Het
Tbc1d10b T A 7: 126,798,183 (GRCm39) S653C probably damaging Het
Tex10 T C 4: 48,452,047 (GRCm39) E693G possibly damaging Het
Thada A G 17: 84,499,633 (GRCm39) S1855P probably benign Het
Tjp2 G A 19: 24,091,484 (GRCm39) P559L probably damaging Het
Tmem184b A G 15: 79,246,966 (GRCm39) S368P probably damaging Het
Tnc G A 4: 63,902,894 (GRCm39) S1461L probably benign Het
Tnpo2 T C 8: 85,771,328 (GRCm39) F177S probably benign Het
Vmn1r58 A T 7: 5,413,506 (GRCm39) Y241* probably null 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
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
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'- ACTCCATAGTCATATGTACACAGC -3'
(R):5'- TACCGGGTAATGTAAACTTGCC -3'

Sequencing Primer
(F):5'- TAGTCATATGTACACAGCCAAAAAC -3'
(R):5'- CCGGGTAATGTAAACTTGCCAAAAAG -3'
Posted On 2020-01-23