Incidental Mutation 'IGL01537:Pom121'
ID90024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pom121
Ensembl Gene ENSMUSG00000053293
Gene Namenuclear pore membrane protein 121
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01537
Quality Score
Status
Chromosome5
Chromosomal Location135376141-135394546 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 135392535 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111171]
Predicted Effect probably benign
Transcript: ENSMUST00000111171
SMART Domains Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Pom121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pom121 APN 5 135391706 missense unknown
IGL01611:Pom121 APN 5 135383672 missense unknown
IGL01803:Pom121 APN 5 135381609 unclassified probably benign
IGL02666:Pom121 APN 5 135386832 missense unknown
IGL03382:Pom121 APN 5 135392407 missense unknown
IGL03134:Pom121 UTSW 5 135382081 missense unknown
R0511:Pom121 UTSW 5 135381832 missense unknown
R1935:Pom121 UTSW 5 135383886 missense unknown
R1967:Pom121 UTSW 5 135391754 missense unknown
R2024:Pom121 UTSW 5 135381550 unclassified probably benign
R4082:Pom121 UTSW 5 135388637 missense unknown
R4477:Pom121 UTSW 5 135381988 missense unknown
R5655:Pom121 UTSW 5 135392317 missense unknown
R6460:Pom121 UTSW 5 135391683 missense unknown
R6807:Pom121 UTSW 5 135381124 unclassified probably benign
R6914:Pom121 UTSW 5 135378157 missense probably damaging 1.00
R7272:Pom121 UTSW 5 135381087 missense unknown
R7726:Pom121 UTSW 5 135378148 missense probably damaging 1.00
Posted On2013-12-03