Incidental Mutation 'IGL02121:Smc1b'
ID 280621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc1b
Ensembl Gene ENSMUSG00000022432
Gene Name structural maintenance of chromosomes 1B
Synonyms Smc1l2, SMC1beta
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # IGL02121
Quality Score
Status
Chromosome 15
Chromosomal Location 84948890-85016158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84982186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 703 (T703A)
Ref Sequence ENSEMBL: ENSMUSP00000023068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023068]
AlphaFold Q920F6
Predicted Effect probably benign
Transcript: ENSMUST00000023068
AA Change: T703A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: T703A

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,159,038 (GRCm39) V122D unknown Het
4930579F01Rik T G 3: 137,870,134 (GRCm39) Y199S possibly damaging Het
Abca6 T A 11: 110,073,750 (GRCm39) I1434F probably benign Het
Acsm1 T C 7: 119,257,635 (GRCm39) V467A possibly damaging Het
Alg3 T C 16: 20,425,285 (GRCm39) T260A possibly damaging Het
Aoc1 A G 6: 48,883,254 (GRCm39) probably null Het
Ap5b1 C T 19: 5,620,815 (GRCm39) T745I possibly damaging Het
Atp6v1c2 T G 12: 17,341,441 (GRCm39) K272Q possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cert1 T G 13: 96,735,982 (GRCm39) Y181D probably benign Het
Clcn7 C T 17: 25,372,058 (GRCm39) A426V possibly damaging Het
Clec14a T C 12: 58,315,223 (GRCm39) E133G probably damaging Het
Dst T A 1: 34,267,738 (GRCm39) V2720E probably damaging Het
Efr3a C T 15: 65,742,999 (GRCm39) probably benign Het
Fam83g T C 11: 61,575,609 (GRCm39) S84P probably benign Het
Gm7251 T C 13: 49,959,382 (GRCm39) noncoding transcript Het
Gnptab T G 10: 88,265,323 (GRCm39) S312A possibly damaging Het
Grap2 C A 15: 80,532,076 (GRCm39) S230R possibly damaging Het
Grm6 T A 11: 50,750,483 (GRCm39) C549S probably damaging Het
Gtf3c1 A T 7: 125,245,903 (GRCm39) L1504* probably null Het
Iars1 A G 13: 49,878,172 (GRCm39) M899V probably benign Het
Il1rl1 T A 1: 40,481,463 (GRCm39) probably benign Het
Kcna4 T C 2: 107,126,963 (GRCm39) Y566H possibly damaging Het
Kcnn2 T C 18: 45,694,340 (GRCm39) I175T probably damaging Het
Kcnt1 C T 2: 25,791,877 (GRCm39) T609I probably damaging Het
Kif3b A G 2: 153,159,194 (GRCm39) R332G probably damaging Het
Mansc1 T C 6: 134,598,800 (GRCm39) D39G probably damaging Het
Med12 T C X: 100,331,948 (GRCm39) probably benign Het
Mmp1b G T 9: 7,384,935 (GRCm39) T238K probably benign Het
Nav3 A G 10: 109,594,897 (GRCm39) S1435P probably damaging Het
Npc1l1 A G 11: 6,178,157 (GRCm39) S418P probably benign Het
Or14j1 T C 17: 38,146,832 (GRCm39) V314A probably benign Het
Or2ab1 T C 11: 58,488,408 (GRCm39) V62A possibly damaging Het
Or3a1b A G 11: 74,012,113 (GRCm39) probably benign Het
Or52a24 A G 7: 103,381,676 (GRCm39) Y181C probably damaging Het
Or52h1 A C 7: 103,829,432 (GRCm39) M61R probably damaging Het
Or6ae1 G T 7: 139,742,607 (GRCm39) D85E probably benign Het
Or8b3b T C 9: 38,584,711 (GRCm39) T23A probably damaging Het
Otoa A G 7: 120,721,247 (GRCm39) T421A probably benign Het
Otulin G A 15: 27,608,823 (GRCm39) A42V probably damaging Het
Pcdhb1 T A 18: 37,398,838 (GRCm39) V263E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Phip A T 9: 82,775,423 (GRCm39) V1053D probably damaging Het
Pkd1 G A 17: 24,794,901 (GRCm39) R2196H probably benign Het
Plin4 T A 17: 56,409,131 (GRCm39) Q1363L probably damaging Het
Pp2d1 C A 17: 53,814,949 (GRCm39) V592L probably damaging Het
Pramel51 T C 12: 88,145,242 (GRCm39) D28G possibly damaging Het
Prkdc T G 16: 15,535,048 (GRCm39) M1649R probably benign Het
Ptk2b T C 14: 66,450,931 (GRCm39) K12E probably benign Het
Rars2 G A 4: 34,657,219 (GRCm39) V522I probably damaging Het
Rpgrip1 T A 14: 52,384,831 (GRCm39) N646K possibly damaging Het
Sars2 A G 7: 28,451,950 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,316 (GRCm39) T227A possibly damaging Het
Stk32a G T 18: 43,446,572 (GRCm39) D341Y probably benign Het
Thap11 T C 8: 106,582,546 (GRCm39) V185A possibly damaging Het
Ttll10 C A 4: 156,132,890 (GRCm39) V65F probably benign Het
Ube2q1 T A 3: 89,687,769 (GRCm39) N111K possibly damaging Het
Upf2 C A 2: 6,031,134 (GRCm39) probably benign Het
Utp25 A T 1: 192,800,586 (GRCm39) D411E probably benign Het
Vasp T A 7: 18,991,637 (GRCm39) probably benign Het
Vmn2r104 C T 17: 20,262,056 (GRCm39) W358* probably null Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wdfy3 C T 5: 102,046,376 (GRCm39) G1826R possibly damaging Het
Wdr7 T A 18: 63,910,616 (GRCm39) Y669* probably null Het
Wdr72 T A 9: 74,189,011 (GRCm39) 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
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
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
Posted On 2015-04-16