Incidental Mutation 'IGL01803:Pom121'
ID 155580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pom121
Ensembl Gene ENSMUSG00000053293
Gene Name nuclear pore membrane protein 121
Synonyms 2610027A18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01803
Quality Score
Status
Chromosome 5
Chromosomal Location 135404995-135423400 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 135410463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000111171]
AlphaFold Q8K3Z9
Predicted Effect probably benign
Transcript: ENSMUST00000000940
SMART Domains Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
low complexity region 180 189 N/A INTRINSIC
Pfam:Nol1_Nop2_Fmu 219 423 1.1e-32 PFAM
low complexity region 448 454 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000111171
AA Change: T898N
SMART Domains Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: T898N

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
low complexity region 147 165 N/A INTRINSIC
low complexity region 174 188 N/A INTRINSIC
Pfam:POM121 292 527 1.3e-111 PFAM
low complexity region 541 551 N/A INTRINSIC
low complexity region 552 576 N/A INTRINSIC
low complexity region 581 602 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
low complexity region 658 674 N/A INTRINSIC
low complexity region 681 699 N/A INTRINSIC
low complexity region 715 742 N/A INTRINSIC
low complexity region 767 776 N/A INTRINSIC
low complexity region 782 800 N/A INTRINSIC
low complexity region 809 825 N/A INTRINSIC
internal_repeat_4 827 861 8.15e-5 PROSPERO
low complexity region 874 904 N/A INTRINSIC
internal_repeat_3 905 952 5.01e-5 PROSPERO
internal_repeat_1 917 961 1.66e-6 PROSPERO
low complexity region 963 979 N/A INTRINSIC
low complexity region 1002 1048 N/A INTRINSIC
low complexity region 1050 1099 N/A INTRINSIC
internal_repeat_2 1104 1144 4.39e-6 PROSPERO
internal_repeat_1 1114 1155 1.66e-6 PROSPERO
internal_repeat_4 1125 1164 8.15e-5 PROSPERO
internal_repeat_3 1126 1175 5.01e-5 PROSPERO
internal_repeat_2 1142 1178 4.39e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184259
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,085,541 (GRCm39) L532Q probably damaging Het
Bod1l A T 5: 41,974,732 (GRCm39) V2194D probably damaging Het
Cenpf G A 1: 189,386,968 (GRCm39) Q1771* probably null Het
Cfap100 C A 6: 90,392,717 (GRCm39) R131L probably benign Het
Coch A T 12: 51,650,082 (GRCm39) Q357L probably benign Het
Col14a1 A G 15: 55,282,210 (GRCm39) T824A unknown Het
Dnah9 T C 11: 66,009,655 (GRCm39) Y744C probably damaging Het
Dusp13b A G 14: 21,783,907 (GRCm39) V201A probably damaging Het
Egf T A 3: 129,530,415 (GRCm39) H249L probably benign Het
Elmod1 G A 9: 53,838,764 (GRCm39) P132L probably benign Het
Eps8l2 T C 7: 140,938,143 (GRCm39) V459A probably benign Het
Fbn1 T C 2: 125,192,207 (GRCm39) D1434G probably damaging Het
Fbn1 G A 2: 125,143,645 (GRCm39) T2828I probably benign Het
Gbp9 C T 5: 105,242,039 (GRCm39) D173N probably damaging Het
Gbp9 T C 5: 105,232,884 (GRCm39) D256G probably damaging Het
Gpsm1 G A 2: 26,236,921 (GRCm39) A580T probably damaging Het
Hnrnpf T C 6: 117,884,094 (GRCm39) probably benign Het
Krt33a T C 11: 99,902,843 (GRCm39) E327G probably benign Het
M1ap T A 6: 82,982,565 (GRCm39) I283K probably benign Het
Mars2 A G 1: 55,277,155 (GRCm39) S253G probably damaging Het
Myh6 A T 14: 55,182,000 (GRCm39) M1767K probably damaging Het
Myo3a T A 2: 22,245,926 (GRCm39) D16E probably damaging Het
Pitrm1 T A 13: 6,629,471 (GRCm39) Y978N probably benign Het
Plekha6 G T 1: 133,200,152 (GRCm39) E66* probably null Het
Polk C T 13: 96,641,030 (GRCm39) V176M probably damaging Het
Rnf213 T A 11: 119,332,133 (GRCm39) D2447E probably damaging Het
Sall3 T C 18: 81,013,047 (GRCm39) M1130V possibly damaging Het
Scn3a A G 2: 65,352,127 (GRCm39) probably benign Het
Sel1l A T 12: 91,797,504 (GRCm39) M241K probably benign Het
Septin4 G A 11: 87,459,075 (GRCm39) S483N probably benign Het
Ssh2 T G 11: 77,316,156 (GRCm39) L259R probably damaging Het
Tnr G T 1: 159,695,813 (GRCm39) G579W probably damaging Het
Vmn1r85 G T 7: 12,818,496 (GRCm39) A216D probably damaging Het
Vmn2r83 C A 10: 79,304,894 (GRCm39) H35N probably benign Het
Zar1l T A 5: 150,441,569 (GRCm39) Y19F probably benign Het
Other mutations in Pom121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pom121 APN 5 135,420,560 (GRCm39) missense unknown
IGL01537:Pom121 APN 5 135,421,389 (GRCm39) splice site probably benign
IGL01611:Pom121 APN 5 135,412,526 (GRCm39) missense unknown
IGL02666:Pom121 APN 5 135,415,686 (GRCm39) missense unknown
IGL03382:Pom121 APN 5 135,421,261 (GRCm39) missense unknown
IGL03134:Pom121 UTSW 5 135,410,935 (GRCm39) missense unknown
R0511:Pom121 UTSW 5 135,410,686 (GRCm39) missense unknown
R1935:Pom121 UTSW 5 135,412,740 (GRCm39) missense unknown
R1967:Pom121 UTSW 5 135,420,608 (GRCm39) missense unknown
R2024:Pom121 UTSW 5 135,410,404 (GRCm39) unclassified probably benign
R4082:Pom121 UTSW 5 135,417,491 (GRCm39) missense unknown
R4477:Pom121 UTSW 5 135,410,842 (GRCm39) missense unknown
R5655:Pom121 UTSW 5 135,421,171 (GRCm39) missense unknown
R6460:Pom121 UTSW 5 135,420,537 (GRCm39) missense unknown
R6807:Pom121 UTSW 5 135,409,978 (GRCm39) unclassified probably benign
R6914:Pom121 UTSW 5 135,407,011 (GRCm39) missense probably damaging 1.00
R7272:Pom121 UTSW 5 135,409,941 (GRCm39) missense unknown
R7726:Pom121 UTSW 5 135,407,002 (GRCm39) missense probably damaging 1.00
R7886:Pom121 UTSW 5 135,410,848 (GRCm39) missense unknown
R7956:Pom121 UTSW 5 135,412,815 (GRCm39) missense unknown
R8356:Pom121 UTSW 5 135,410,032 (GRCm39) missense unknown
R8456:Pom121 UTSW 5 135,410,032 (GRCm39) missense unknown
R8503:Pom121 UTSW 5 135,410,398 (GRCm39) missense unknown
R9776:Pom121 UTSW 5 135,420,554 (GRCm39) missense unknown
Posted On 2014-02-04