Incidental Mutation 'R7890:Smc1b'
ID 609298
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission 045942-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R7890 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84950529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1165 (V1165A)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068] [ENSMUST00000023069] [ENSMUST00000227591] [ENSMUST00000229203]
AlphaFold Q920F6
Predicted Effect probably damaging
Transcript: ENSMUST00000023068
AA Change: V1165A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: V1165A

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: ENSMUST00000023069
SMART Domains Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434

DomainStartEndE-ValueType
Pfam:SIR2_2 142 286 7.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227591
Predicted Effect probably benign
Transcript: ENSMUST00000229203
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
Aasdh T A 5: 77,031,969 (GRCm39) K551N probably benign Het
Acp4 A C 7: 43,903,528 (GRCm39) L262R probably damaging Het
Acsf3 G T 8: 123,512,704 (GRCm39) probably null Het
Ago4 T C 4: 126,419,869 (GRCm39) Q36R probably benign Het
Ankrd31 T A 13: 96,968,379 (GRCm39) I672K probably benign Het
Astn1 A T 1: 158,407,903 (GRCm39) D628V probably damaging Het
Brca2 T C 5: 150,462,846 (GRCm39) V870A possibly damaging Het
Camk4 T C 18: 33,318,058 (GRCm39) V405A probably benign Het
Carmil1 A T 13: 24,197,215 (GRCm39) S146T Het
Cflar T A 1: 58,791,915 (GRCm39) L406Q Het
Clic6 T A 16: 92,296,275 (GRCm39) S312T probably benign Het
Col5a2 T C 1: 45,444,147 (GRCm39) probably null Het
Ctc1 C A 11: 68,917,355 (GRCm39) Q384K probably damaging Het
Defa24 A G 8: 22,224,556 (GRCm39) K2E probably damaging Het
Dis3l C A 9: 64,229,753 (GRCm39) A309S probably benign Het
Dnah9 A G 11: 65,962,898 (GRCm39) S1806P probably damaging Het
Dolk C T 2: 30,174,726 (GRCm39) V440I probably damaging Het
Erc2 A G 14: 27,762,298 (GRCm39) probably null Het
Fntb T C 12: 76,920,224 (GRCm39) probably null Het
Gm4846 A T 1: 166,322,228 (GRCm39) V113E probably benign Het
Gm5592 G T 7: 40,936,183 (GRCm39) Q228H probably damaging Het
Gm5916 T A 9: 36,032,291 (GRCm39) T48S possibly damaging Het
Ift172 G T 5: 31,440,425 (GRCm39) Y287* probably null Het
Il27ra T C 8: 84,760,614 (GRCm39) I450M probably damaging Het
Krtap31-2 T A 11: 99,827,377 (GRCm39) C70S possibly damaging Het
Lipo4 T A 19: 33,478,964 (GRCm39) H292L probably damaging Het
Lyst T C 13: 13,915,154 (GRCm39) F3283L probably damaging Het
Mctp1 T G 13: 76,975,876 (GRCm39) C750G probably damaging Het
Msantd5 C T 11: 51,125,665 (GRCm39) S196L probably damaging Het
Mtmr7 T C 8: 41,004,776 (GRCm39) D600G possibly damaging Het
Mylk C T 16: 34,784,018 (GRCm39) Q1395* probably null Het
Nap1l5 T A 6: 58,883,873 (GRCm39) D27V probably damaging Het
Nfkbib T C 7: 28,461,512 (GRCm39) D75G probably damaging Het
Nlrc4 T A 17: 74,744,503 (GRCm39) M793L probably benign Het
Or13m2-ps1 T A 6: 42,778,426 (GRCm39) C250* probably null Het
Or52ab4 G T 7: 102,987,537 (GRCm39) C92F probably benign Het
Or5p52 T C 7: 107,502,250 (GRCm39) S109P probably benign Het
Or7g19 T C 9: 18,856,799 (GRCm39) M285T probably benign Het
Or8g37 C T 9: 39,731,310 (GRCm39) A125V probably damaging Het
Pcdh15 G A 10: 74,478,146 (GRCm39) R207Q probably damaging Het
Plek T C 11: 16,945,238 (GRCm39) T54A probably benign Het
Pno1 C A 11: 17,161,443 (GRCm39) R22L probably benign Het
Prkca A T 11: 107,903,510 (GRCm39) N287K probably damaging Het
Rapgef6 C G 11: 54,517,549 (GRCm39) H414D probably damaging Het
Rpa1 CA C 11: 75,198,050 (GRCm39) probably null Het
Rpap2 T C 5: 107,754,777 (GRCm39) C136R probably damaging Het
Rtl1 C T 12: 109,559,251 (GRCm39) E863K possibly damaging Het
Ryr3 A T 2: 112,757,257 (GRCm39) I366N probably damaging Het
Scn9a T C 2: 66,373,456 (GRCm39) I508V probably benign Het
Sec14l3 A G 11: 4,024,795 (GRCm39) D248G probably damaging Het
Six6 A T 12: 72,987,317 (GRCm39) Q163L probably benign Het
Slco6c1 A G 1: 96,990,192 (GRCm39) V683A possibly damaging Het
Smgc A T 15: 91,731,279 (GRCm39) Q241L possibly damaging Het
Tdrp A T 8: 14,005,727 (GRCm39) S65T probably damaging Het
Tg A T 15: 66,555,663 (GRCm39) Y785F probably damaging Het
Themis2 T G 4: 132,516,954 (GRCm39) Q182P probably damaging Het
Tmem86b G T 7: 4,631,404 (GRCm39) S216* probably null Het
Ttyh2 T A 11: 114,577,272 (GRCm39) I61N possibly damaging Het
Vmn2r97 A T 17: 19,149,802 (GRCm39) T397S probably benign Het
Zfp141 C T 7: 42,125,903 (GRCm39) D190N probably damaging Het
Zfp58 T C 13: 67,640,114 (GRCm39) R126G 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
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
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'- TTAGGAAGTCCCAAGGCTGG -3'
(R):5'- AATTGAGCTTCCTGAAGGAGCTAG -3'

Sequencing Primer
(F):5'- CCAAGGCTGGCAGGGTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2019-12-20