Incidental Mutation 'R5314:Smc1b'
ID 405764
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 042897-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R5314 (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 84955066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1062 (Y1062F)
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: Y1062F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: Y1062F

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,473,172 (GRCm39) F109S unknown Het
Ankhd1 A T 18: 36,694,111 (GRCm39) probably null Het
Atp8a1 C T 5: 67,863,248 (GRCm39) probably null Het
Ccdc136 G T 6: 29,417,497 (GRCm39) V707F probably benign Het
Ccdc157 A T 11: 4,100,078 (GRCm39) C91* probably null Het
Ceacam3 T A 7: 16,892,296 (GRCm39) N346K possibly damaging Het
Cfap251 A G 5: 123,460,626 (GRCm39) D1196G probably benign Het
Chd4 A G 6: 125,077,551 (GRCm39) E74G probably damaging Het
Cntn1 A G 15: 92,192,892 (GRCm39) M665V probably benign Het
Crtc2 C T 3: 90,168,348 (GRCm39) Q364* probably null Het
Csf1r T A 18: 61,262,796 (GRCm39) I857N probably damaging Het
Dner C T 1: 84,558,460 (GRCm39) G168D probably damaging Het
Edar T C 10: 58,443,182 (GRCm39) T315A probably benign Het
Egflam A G 15: 7,333,493 (GRCm39) V153A probably damaging Het
Enoph1 T C 5: 100,211,682 (GRCm39) I193T possibly damaging Het
Epc1 A G 18: 6,462,969 (GRCm39) I9T probably damaging Het
Fbxw18 T A 9: 109,522,246 (GRCm39) I208F possibly damaging Het
Gm4841 A G 18: 60,403,364 (GRCm39) V243A probably benign Het
Herc2 T C 7: 55,869,534 (GRCm39) V4297A probably damaging Het
Itsn2 C T 12: 4,677,960 (GRCm39) P106S probably benign Het
Kcnu1 A G 8: 26,352,486 (GRCm39) T218A probably damaging Het
Kif1a A G 1: 92,946,220 (GRCm39) S1677P probably damaging Het
Krt14 A T 11: 100,095,526 (GRCm39) M293K probably damaging Het
Meis3 T A 7: 15,917,989 (GRCm39) V307E probably damaging Het
Nadk2 A C 15: 9,108,401 (GRCm39) I417L probably benign Het
Nav2 AAGCAGCAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCAGCAGCA 7: 49,058,440 (GRCm39) probably benign Het
Neb A T 2: 52,171,515 (GRCm39) N1659K probably benign Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or10w1 T C 19: 13,632,630 (GRCm39) V274A probably benign Het
Or8g32 T C 9: 39,305,785 (GRCm39) S233P probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pde3b A T 7: 114,093,772 (GRCm39) N339Y probably damaging Het
Pde8b A G 13: 95,223,361 (GRCm39) F298L possibly damaging Het
Phtf1 G A 3: 103,906,603 (GRCm39) R606H probably damaging Het
Psd4 A G 2: 24,290,528 (GRCm39) D535G possibly damaging Het
Rad51ap1 A G 6: 126,905,121 (GRCm39) V130A probably damaging Het
Rbm11 T C 16: 75,393,474 (GRCm39) F57L probably damaging Het
Rprd2 A G 3: 95,671,401 (GRCm39) V1334A possibly damaging Het
Satb2 T C 1: 56,870,686 (GRCm39) E433G probably damaging Het
Sema6b G A 17: 56,435,413 (GRCm39) R277* probably null Het
Sepsecs A T 5: 52,805,015 (GRCm39) S349T probably benign Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Slc7a2 T C 8: 41,368,067 (GRCm39) probably null Het
Snrnp70 G A 7: 45,026,476 (GRCm39) R298* probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Taar8c A T 10: 23,977,246 (GRCm39) C189S probably damaging Het
Tas1r2 T A 4: 139,382,672 (GRCm39) D103E probably damaging Het
Timd2 T C 11: 46,568,087 (GRCm39) I236V probably benign Het
Tmem87a A G 2: 120,208,407 (GRCm39) V316A probably damaging Het
Treml2 T A 17: 48,607,601 (GRCm39) L16Q probably damaging Het
Zcchc14 G A 8: 122,335,337 (GRCm39) probably benign Het
Zfp462 T C 4: 55,013,178 (GRCm39) Y567H probably damaging Het
Zfp551 G A 7: 12,150,087 (GRCm39) R441* probably null Het
Zfp930 A G 8: 69,679,373 (GRCm39) I59M 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
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'- CTGGCTTTGCACCTATGTTATTAAG -3'
(R):5'- GCTCTGTCAAGAAAAGATTCATGAAGC -3'

Sequencing Primer
(F):5'- GCACCTATGTTATTAAGGACTATGC -3'
(R):5'- TCATGAAGCTTAAAAGTTGTTTTCTC -3'
Posted On 2016-07-22