Incidental Mutation 'IGL01123:Pom121'
ID51152
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 #IGL01123
Quality Score
Status
Chromosome5
Chromosomal Location135376141-135394546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 135391706 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 287 (V287D)
Ref Sequence ENSEMBL: ENSMUSP00000106801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111171]
Predicted Effect unknown
Transcript: ENSMUST00000111171
AA Change: V287D
SMART Domains Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: V287D

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Pom121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Pom121 APN 5 135392535 splice site probably benign
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
R7886:Pom121 UTSW 5 135381994 missense unknown
R7969:Pom121 UTSW 5 135381994 missense unknown
Posted On2013-06-21