Incidental Mutation 'R7400:Smc1b'
ID 574127
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 045482-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R7400 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84953921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1116 (R1116L)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068] [ENSMUST00000227591]
AlphaFold Q920F6
Predicted Effect probably damaging
Transcript: ENSMUST00000023068
AA Change: R1116L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: R1116L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (69/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,496,547 (GRCm39) S118P unknown Het
Ahnak T A 19: 8,991,977 (GRCm39) D4420E probably damaging Het
Atp5mc2 C T 15: 102,573,547 (GRCm39) A90T possibly damaging Het
Batf2 A G 19: 6,221,538 (GRCm39) Y116C probably damaging Het
Cd48 G A 1: 171,523,493 (GRCm39) R112H probably benign Het
Cdh8 A T 8: 100,006,192 (GRCm39) Y132N probably damaging Het
Cfap70 A C 14: 20,458,335 (GRCm39) S793A probably benign Het
Cmip A G 8: 117,984,144 (GRCm39) probably null Het
Cyp1a2 T C 9: 57,589,223 (GRCm39) N197S probably benign Het
Diaph1 T C 18: 37,987,555 (GRCm39) D1067G probably damaging Het
Disp2 T C 2: 118,622,367 (GRCm39) L1033P probably damaging Het
Dock6 G T 9: 21,713,103 (GRCm39) A1981D possibly damaging Het
Eci3 T C 13: 35,143,960 (GRCm39) D55G probably benign Het
Eea1 T A 10: 95,831,432 (GRCm39) D174E probably benign Het
Ehd2 T C 7: 15,684,581 (GRCm39) E406G possibly damaging Het
Erich3 A G 3: 154,468,214 (GRCm39) K889E Het
Fat4 C A 3: 38,942,073 (GRCm39) T322K probably damaging Het
Fitm1 A T 14: 55,814,226 (GRCm39) I241F possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Gpsm2 T A 3: 108,587,004 (GRCm39) D644V probably damaging Het
Gucy2d C A 7: 98,092,847 (GRCm39) L75M possibly damaging Het
Gvin2 T A 7: 105,551,247 (GRCm39) I602F probably benign Het
Hmcn1 T C 1: 150,550,181 (GRCm39) I2668V probably damaging Het
Hoxa7 A G 6: 52,194,033 (GRCm39) I118T possibly damaging Het
Hsp90ab1 A G 17: 45,880,210 (GRCm39) V473A probably benign Het
Ica1l T C 1: 60,081,801 (GRCm39) probably null Het
Ighv1-72 A G 12: 115,721,837 (GRCm39) S40P probably damaging Het
Inhca T A 9: 103,127,861 (GRCm39) E690V probably benign Het
Kif28 A C 1: 179,527,839 (GRCm39) W771G probably damaging Het
Klf13 G C 7: 63,587,996 (GRCm39) A100G probably benign Het
Klhl5 A G 5: 65,305,933 (GRCm39) E300G possibly damaging Het
Krt40 A G 11: 99,433,969 (GRCm39) S6P probably benign Het
Map3k13 C T 16: 21,741,072 (GRCm39) R800W probably damaging Het
Mef2d T C 3: 88,075,038 (GRCm39) L408P possibly damaging Het
Mmp10 T A 9: 7,503,301 (GRCm39) M87K probably damaging Het
Mrgprd T A 7: 144,875,643 (GRCm39) H171Q probably benign Het
Muc1 C T 3: 89,137,953 (GRCm39) T265I possibly damaging Het
Myo15b A G 11: 115,750,939 (GRCm39) N570D Het
Nfs1 T A 2: 155,968,243 (GRCm39) I408F probably damaging Het
Npdc1 G T 2: 25,296,257 (GRCm39) C48F probably damaging Het
Or2j3 A T 17: 38,616,222 (GRCm39) N43K possibly damaging Het
Or52e7 T C 7: 104,684,417 (GRCm39) I4T probably benign Het
Or52j3 T C 7: 102,836,587 (GRCm39) S260P probably damaging Het
Or9a2 A T 6: 41,748,678 (GRCm39) L185H probably damaging Het
Osbpl2 T C 2: 179,795,114 (GRCm39) M332T probably benign Het
Ostm1 T A 10: 42,574,213 (GRCm39) V302D probably damaging Het
Otof T C 5: 30,542,532 (GRCm39) D672G probably benign Het
Plekha6 A T 1: 133,201,762 (GRCm39) K392* probably null Het
Pnpla1 A T 17: 29,077,950 (GRCm39) D37V probably damaging Het
Rasgrp1 A G 2: 117,129,026 (GRCm39) S198P probably damaging Het
Reln A T 5: 22,176,932 (GRCm39) N1911K probably damaging Het
Ripply3 C A 16: 94,136,759 (GRCm39) A140E probably benign Het
Siglec1 A G 2: 130,928,015 (GRCm39) C8R possibly damaging Het
Slamf6 T C 1: 171,747,360 (GRCm39) S41P unknown Het
Slc15a5 A G 6: 138,050,055 (GRCm39) M120T probably benign Het
Slc25a20 T G 9: 108,559,172 (GRCm39) D179E possibly damaging Het
Sltm T A 9: 70,493,352 (GRCm39) V783E probably damaging Het
Smim23 A G 11: 32,774,471 (GRCm39) V16A probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spen T C 4: 141,201,052 (GRCm39) D2525G probably damaging Het
St14 A C 9: 31,019,571 (GRCm39) N83K probably benign Het
Stab1 T C 14: 30,879,341 (GRCm39) N713S probably null Het
Syne1 A T 10: 5,168,580 (GRCm39) L5267H probably benign Het
Tenm4 T C 7: 96,344,010 (GRCm39) L271P probably damaging Het
Tfap2d C T 1: 19,213,150 (GRCm39) H325Y possibly damaging Het
Trav23 A G 14: 54,215,020 (GRCm39) R78G probably benign Het
Ttc39c A T 18: 12,776,856 (GRCm39) probably benign Het
Unc79 A G 12: 103,070,889 (GRCm39) D1228G probably damaging Het
Vmn1r66 T A 7: 10,008,874 (GRCm39) H53L probably damaging Het
Vps13b A T 15: 35,379,046 (GRCm39) L53F probably damaging Het
Zfp532 C T 18: 65,771,984 (GRCm39) T834M possibly 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
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
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'- TGACTGGAAGGATAGCTTTGC -3'
(R):5'- TGCACAACTAAGTGGATTTACAGG -3'

Sequencing Primer
(F):5'- GTAACTTGCTGTGGCCTT -3'
(R):5'- TTTTTCCCATCAAAACTGAGGAAACC -3'
Posted On 2019-09-13