Incidental Mutation 'R5834:Smc1b'
ID 449502
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 044055-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R5834 (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 C at 84973866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 930 (L930R)
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: L930R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: L930R

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
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
Abca13 T C 11: 9,227,974 (GRCm39) probably null Het
Adamts20 A C 15: 94,251,465 (GRCm39) S441A probably damaging Het
Aen T A 7: 78,557,049 (GRCm39) M299K probably damaging Het
Akap3 T C 6: 126,842,796 (GRCm39) S472P probably benign Het
Ank3 T G 10: 69,658,087 (GRCm39) V158G probably damaging Het
Arfgap1 A G 2: 180,622,955 (GRCm39) D324G probably benign Het
Aste1 A T 9: 105,280,614 (GRCm39) R448S probably benign Het
Atp10a T A 7: 58,308,366 (GRCm39) L55Q probably benign Het
C1qtnf9 G A 14: 61,016,899 (GRCm39) G143D probably damaging Het
Camsap2 A G 1: 136,208,126 (GRCm39) V1122A probably benign Het
Cbl T C 9: 44,145,076 (GRCm39) H37R probably damaging Het
Cfap61 A C 2: 145,971,069 (GRCm39) D893A probably benign Het
Chd2 T A 7: 73,128,463 (GRCm39) I841F probably damaging Het
Chd9 A G 8: 91,723,792 (GRCm39) T622A probably damaging Het
Cntnap3 A G 13: 64,896,391 (GRCm39) Y1028H probably benign Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp2c55 A G 19: 39,030,511 (GRCm39) I448V probably benign Het
Cyth1 T A 11: 118,083,289 (GRCm39) probably null Het
Dcaf13 C T 15: 39,007,037 (GRCm39) R324* probably null Het
Dhx37 C A 5: 125,502,794 (GRCm39) R42L probably damaging Het
Dock1 T A 7: 134,365,662 (GRCm39) V450E probably damaging Het
Ednrb A G 14: 104,058,313 (GRCm39) L330P probably damaging Het
Eml4 T A 17: 83,785,170 (GRCm39) H778Q probably damaging Het
Evx1 T A 6: 52,292,975 (GRCm39) I227N probably damaging Het
G3bp1 T A 11: 55,388,766 (GRCm39) V326E probably benign Het
Gata2 T C 6: 88,177,729 (GRCm39) V253A probably benign Het
Gbp2 A G 3: 142,339,138 (GRCm39) N397D probably damaging Het
Gm14401 C A 2: 176,778,696 (GRCm39) H261N probably benign Het
Hacd4 A T 4: 88,316,389 (GRCm39) H243Q probably benign Het
Hsd3b1 C A 3: 98,760,255 (GRCm39) K245N possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ift27 A T 15: 78,049,443 (GRCm39) C86S probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irs3 T A 5: 137,642,821 (GRCm39) S206C probably damaging Het
Lefty2 C T 1: 180,720,716 (GRCm39) probably benign Het
Mark3 A G 12: 111,590,921 (GRCm39) I162V probably damaging Het
Matcap1 G A 8: 106,008,755 (GRCm39) Q421* probably null Het
Mefv A C 16: 3,533,910 (GRCm39) D120E probably damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mre11a A G 9: 14,710,953 (GRCm39) I45V probably benign Het
Mtor A G 4: 148,620,993 (GRCm39) N1797S possibly damaging Het
Nav1 A C 1: 135,460,144 (GRCm39) M393R probably benign Het
Nod2 T C 8: 89,391,267 (GRCm39) S510P possibly damaging Het
Nos2 C T 11: 78,819,405 (GRCm39) T39I probably benign Het
Or2h1b A T 17: 37,462,690 (GRCm39) Y58N probably damaging Het
Or5p54 T A 7: 107,554,113 (GRCm39) H88Q probably benign Het
Pcdh7 A G 5: 57,878,970 (GRCm39) S842G possibly damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Plaa A C 4: 94,471,706 (GRCm39) V10G probably damaging Het
Pprc1 T A 19: 46,053,659 (GRCm39) probably benign Het
Ptprt T C 2: 161,402,189 (GRCm39) Y994C probably damaging Het
Ripply2 T A 9: 86,897,943 (GRCm39) W37R probably damaging Het
Rpgrip1 A G 14: 52,395,839 (GRCm39) D1227G probably damaging Het
Scoc C T 8: 84,164,260 (GRCm39) D10N possibly damaging Het
Sdk2 A T 11: 113,745,099 (GRCm39) I732N probably damaging Het
Six2 T C 17: 85,995,092 (GRCm39) K97E probably damaging Het
Slit2 A C 5: 48,416,989 (GRCm39) N1014H probably damaging Het
Spag16 T A 1: 69,962,873 (GRCm39) M340K probably benign Het
Spata31 C T 13: 65,070,480 (GRCm39) S876L probably benign Het
Spen A G 4: 141,199,154 (GRCm39) Y3135H possibly damaging Het
Spta1 A T 1: 174,012,363 (GRCm39) probably null Het
Stk3 G A 15: 34,959,164 (GRCm39) T336I probably damaging Het
Tas2r118 T A 6: 23,969,876 (GRCm39) T62S probably benign Het
Tmprss11d A G 5: 86,454,169 (GRCm39) M212T probably damaging Het
Trpc7 A G 13: 56,923,971 (GRCm39) L738P probably damaging Het
Ttll8 A G 15: 88,801,449 (GRCm39) V413A possibly damaging Het
Usb1 G A 8: 96,060,161 (GRCm39) probably benign Het
Vmn1r238 T C 18: 3,123,168 (GRCm39) E82G probably benign Het
Vmn2r114 T C 17: 23,529,599 (GRCm39) T168A possibly damaging Het
Vmn2r60 C A 7: 41,765,932 (GRCm39) P13H probably benign Het
Wdr26 A G 1: 181,030,712 (GRCm39) L194P probably damaging Het
Zfhx2 G A 14: 55,310,787 (GRCm39) Q636* probably null Het
Zfyve26 A G 12: 79,313,311 (GRCm39) Y25H 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
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'- TGTGACCAATTGAGAAACCCTAC -3'
(R):5'- CTGGCACTTGGAACTCTCATAG -3'

Sequencing Primer
(F):5'- GACCAATTGAGAAACCCTACTTTTC -3'
(R):5'- TGGCACTTGGAACTCTCATAGGAAAG -3'
Posted On 2016-12-20