Incidental Mutation 'R9245:Smc1b'
ID 701257
Institutional Source Beutler Lab
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R9245 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85004846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 409 (F409L)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068]
AlphaFold Q920F6
Predicted Effect probably benign
Transcript: ENSMUST00000023068
AA Change: F409L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: F409L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,312 (GRCm39) H96Q possibly damaging Het
Ankhd1 A G 18: 36,788,653 (GRCm39) Q411R Het
Ankrd34c A T 9: 89,610,940 (GRCm39) V467E probably damaging Het
Apobr A T 7: 126,186,507 (GRCm39) R673* probably null Het
Arhgap18 T C 10: 26,722,107 (GRCm39) V98A possibly damaging Het
Arhgap30 G T 1: 171,235,957 (GRCm39) W777L possibly damaging Het
Atp8a1 A G 5: 67,779,977 (GRCm39) Y1154H unknown Het
B3gntl1 A G 11: 121,514,770 (GRCm39) F299S possibly damaging Het
Baz2a C T 10: 127,957,812 (GRCm39) T1055I probably benign Het
Baz2b T C 2: 59,743,331 (GRCm39) M1547V probably benign Het
Bsn T C 9: 107,993,292 (GRCm39) D820G probably damaging Het
Castor1 T A 11: 4,170,485 (GRCm39) N160K probably damaging Het
Ccdc57 A G 11: 120,812,578 (GRCm39) Y59H probably damaging Het
Crim1 T A 17: 78,651,871 (GRCm39) C532S probably damaging Het
Csmd2 A C 4: 128,200,168 (GRCm39) D451A Het
Cyp2d22 A T 15: 82,256,748 (GRCm39) I342K probably damaging Het
Des A T 1: 75,343,406 (GRCm39) T430S probably benign Het
Dnah17 C T 11: 118,016,503 (GRCm39) V283I probably benign Het
Dnah9 C T 11: 65,786,731 (GRCm39) G3634E probably benign Het
Dst A G 1: 34,228,943 (GRCm39) S2179G probably benign Het
Elp1 C A 4: 56,771,003 (GRCm39) R980L probably benign Het
Esrp2 T A 8: 106,858,775 (GRCm39) T621S possibly damaging Het
Ext2 C T 2: 93,534,836 (GRCm39) V643I probably benign Het
Fastk G A 5: 24,649,172 (GRCm39) P72S probably benign Het
Fbxo28 A G 1: 182,145,566 (GRCm39) I174T possibly damaging Het
Fstl3 C T 10: 79,614,411 (GRCm39) L38F probably damaging Het
Golgb1 C T 16: 36,739,181 (GRCm39) Q2548* probably null Het
Gstm3 T C 3: 107,874,956 (GRCm39) T99A probably benign Het
H2bc15 A G 13: 21,938,369 (GRCm39) D26G unknown Het
Hadh T C 3: 131,034,636 (GRCm39) N220S probably damaging Het
Hnrnpab T C 11: 51,497,240 (GRCm39) T51A probably benign Het
Immt G T 6: 71,823,350 (GRCm39) W67L probably benign Het
Ints8 T A 4: 11,213,811 (GRCm39) probably null Het
Ipo7 T C 7: 109,643,826 (GRCm39) V407A probably damaging Het
Kics2 A T 10: 121,586,273 (GRCm39) H196L probably damaging Het
Kif20b T C 19: 34,915,725 (GRCm39) S501P probably benign Het
Krt39 T G 11: 99,407,450 (GRCm39) Q348P probably damaging Het
Lrp1b T A 2: 40,488,456 (GRCm39) N4543I Het
Macrod2 T C 2: 141,652,534 (GRCm39) V199A probably benign Het
Mast2 A G 4: 116,167,701 (GRCm39) V1052A probably damaging Het
Mfap4 T C 11: 61,378,007 (GRCm39) F149S probably damaging Het
Moap1 A G 12: 102,708,526 (GRCm39) V341A unknown Het
Mprip G T 11: 59,628,403 (GRCm39) E283D possibly damaging Het
Mrgpra2a A G 7: 47,077,004 (GRCm39) F85L possibly damaging Het
Mx1 T A 16: 97,252,753 (GRCm39) probably null Het
Ndc80 A T 17: 71,807,294 (GRCm39) M554K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Or52j3 A T 7: 102,836,194 (GRCm39) I129F probably damaging Het
Or5k1b T A 16: 58,581,126 (GRCm39) K138* probably null Het
Or6c38 T A 10: 128,929,472 (GRCm39) I124F probably damaging Het
Pck1 C T 2: 172,996,569 (GRCm39) T161I probably damaging Het
Pclo T A 5: 14,726,959 (GRCm39) M1939K unknown Het
Pcm1 T A 8: 41,732,877 (GRCm39) N711K probably damaging Het
Pkd2l1 A G 19: 44,143,894 (GRCm39) V393A probably benign Het
Pla2g15 G T 8: 106,889,539 (GRCm39) A229S possibly damaging Het
Plekhg1 G A 10: 3,907,141 (GRCm39) R741Q Het
Plod1 A G 4: 148,010,626 (GRCm39) L275P possibly damaging Het
Plvap G T 8: 71,964,323 (GRCm39) T13K possibly damaging Het
Plxna1 A T 6: 89,314,320 (GRCm39) I707N probably damaging Het
Pnma8b A G 7: 16,680,843 (GRCm39) E609G probably benign Het
Ptger4 C T 15: 5,273,193 (GRCm39) probably benign Het
Qars1 G T 9: 108,386,132 (GRCm39) E108* probably null Het
Rfpl4 C A 7: 5,113,840 (GRCm39) D114Y probably damaging Het
Rint1 A G 5: 24,010,411 (GRCm39) T207A probably benign Het
Rxfp1 A G 3: 79,552,261 (GRCm39) I680T probably benign Het
Skint2 A T 4: 112,502,616 (GRCm39) K275N probably benign Het
Slc29a3 A G 10: 60,559,755 (GRCm39) V133A possibly damaging Het
Slc9a2 A G 1: 40,805,460 (GRCm39) K680E probably benign Het
Sos2 A T 12: 69,695,239 (GRCm39) M166K probably damaging Het
Spata31h1 T C 10: 82,123,554 (GRCm39) D3152G probably benign Het
Tead1 A G 7: 112,358,723 (GRCm39) I12V probably benign Het
Tead3 C A 17: 28,551,709 (GRCm39) K461N probably benign Het
Tex12 C A 9: 50,468,772 (GRCm39) A83S probably damaging Het
Top6bl T G 19: 4,746,068 (GRCm39) K199Q possibly damaging Het
Ttc28 A G 5: 111,325,525 (GRCm39) T319A unknown Het
Ttn T C 2: 76,728,593 (GRCm39) I5496V unknown Het
Tubb4a T A 17: 57,387,959 (GRCm39) I356F possibly damaging Het
Txk A T 5: 72,891,610 (GRCm39) W119R probably damaging Het
Txnl4a A T 18: 80,261,937 (GRCm39) I58F probably benign Het
Uba6 A T 5: 86,318,418 (GRCm39) Y44N probably damaging Het
Usp40 T C 1: 87,878,009 (GRCm39) T1093A probably benign Het
Vmn1r194 T C 13: 22,428,731 (GRCm39) I116T probably benign Het
Vmn2r14 A G 5: 109,368,176 (GRCm39) M272T possibly damaging Het
Vmn2r85 C A 10: 130,255,033 (GRCm39) M550I possibly damaging Het
Vmn2r85 C A 10: 130,261,534 (GRCm39) V268F probably damaging Het
Vwa5b2 T A 16: 20,416,890 (GRCm39) V529E probably damaging Het
Zfp141 A T 7: 42,124,821 (GRCm39) Y550* probably null Het
Zik1 G A 7: 10,224,156 (GRCm39) L314F probably 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
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
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'- CCTGAACACATATGAGGGCATG -3'
(R):5'- ATTTTGATGAGAACAGGATGCC -3'

Sequencing Primer
(F):5'- GGCATGGCCTACTCTAACTATAAAAG -3'
(R):5'- TGAGAACAGGATGCCATATAATTTC -3'
Posted On 2022-03-25