Incidental Mutation 'R5690:Smc1b'
ID 443648
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 043323-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R5690 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84996974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 549 (S549P)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068]
AlphaFold Q920F6
Predicted Effect probably damaging
Transcript: ENSMUST00000023068
AA Change: S549P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: S549P

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,759,144 (GRCm39) probably benign Het
Acadl T C 1: 66,892,445 (GRCm39) Y126C probably damaging Het
Ak6 A G 13: 100,792,129 (GRCm39) probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,066,233 (GRCm39) probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp6v1e1 A T 6: 120,785,317 (GRCm39) probably null Het
Axin1 A G 17: 26,413,911 (GRCm39) Y792C probably damaging Het
C1s2 T C 6: 124,607,996 (GRCm39) N233S probably benign Het
Ccer2 C A 7: 28,455,629 (GRCm39) probably benign Het
Cfap46 A G 7: 139,218,269 (GRCm39) S1481P probably benign Het
Cspg4 A T 9: 56,806,019 (GRCm39) T2277S probably benign Het
Ctsl T A 13: 64,513,022 (GRCm39) N300I probably damaging Het
Dnah2 T C 11: 69,382,370 (GRCm39) I1247V probably benign Het
Dsg3 A T 18: 20,655,108 (GRCm39) Q135L probably benign Het
Efcab14 G A 4: 115,617,244 (GRCm39) V318M possibly damaging Het
Etl4 G A 2: 20,810,647 (GRCm39) S910N probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frmd4b T C 6: 97,330,164 (GRCm39) E133G possibly damaging Het
Herc2 T C 7: 55,807,453 (GRCm39) F2514S probably benign Het
Il18rap A G 1: 40,576,272 (GRCm39) D261G possibly damaging Het
Klk1b16 A G 7: 43,790,318 (GRCm39) probably null Het
Lrp1b A C 2: 40,640,906 (GRCm39) probably null Het
Mrpl45 C A 11: 97,212,412 (GRCm39) probably benign Het
Myh13 A G 11: 67,220,101 (GRCm39) E150G probably damaging Het
Nbas T A 12: 13,386,285 (GRCm39) V737D probably damaging Het
Ncr1 T C 7: 4,341,296 (GRCm39) Y59H probably damaging Het
Nt5c1a T A 4: 123,109,732 (GRCm39) V277E probably damaging Het
Ogfod1 T A 8: 94,784,769 (GRCm39) S343T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pnpla1 A T 17: 29,097,346 (GRCm39) I171F probably damaging Het
Rab5if G A 2: 156,707,234 (GRCm39) V58I probably benign Het
Rdh8 A G 9: 20,736,785 (GRCm39) N259S probably damaging Het
Resf1 T C 6: 149,229,735 (GRCm39) L927S possibly damaging Het
Slc22a12 A G 19: 6,586,878 (GRCm39) M496T probably benign Het
Slc8b1 G A 5: 120,651,270 (GRCm39) W10* probably null Het
Smarcc2 G A 10: 128,320,276 (GRCm39) G887S probably damaging Het
Synj2 A G 17: 6,085,802 (GRCm39) M1181V probably benign Het
Tbx15 T C 3: 99,216,166 (GRCm39) S76P probably damaging Het
Tbx2 A T 11: 85,727,879 (GRCm39) I271F probably damaging Het
Thap4 A G 1: 93,644,352 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,306 (GRCm39) Y333C probably damaging Het
Trcg1 C T 9: 57,149,094 (GRCm39) P222L probably benign Het
Tubb3 T C 8: 124,148,045 (GRCm39) V326A probably benign Het
Unc80 A C 1: 66,679,731 (GRCm39) I2101L probably benign Het
Vmn1r19 T C 6: 57,381,780 (GRCm39) L111S probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Xpo4 T C 14: 57,828,446 (GRCm39) I805V 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
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'- GTTACATCACTTGCACCCAC -3'
(R):5'- AAGCAGTCAAGAGGTTGTCC -3'

Sequencing Primer
(F):5'- TTACATCACTTGCACCCACCCTAC -3'
(R):5'- GCAGTCAAGAGGTTGTCCATTATC -3'
Posted On 2016-11-09