Incidental Mutation 'IGL03134:Pom121'
ID453156
Institutional Source Beutler Lab
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 #IGL03134 (G1)
Quality Score135
Status Validated
Chromosome5
Chromosomal Location135376141-135394546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 135382081 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 741 (P741S)
Ref Sequence ENSEMBL: ENSMUSP00000106801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111171]
Predicted Effect unknown
Transcript: ENSMUST00000065638
AA Change: P740S
SMART Domains Protein: ENSMUSP00000064466
Gene: ENSMUSG00000053293
AA Change: P740S

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 291 527 7e-104 PFAM
low complexity region 540 550 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
low complexity region 580 601 N/A INTRINSIC
low complexity region 604 620 N/A INTRINSIC
low complexity region 657 673 N/A INTRINSIC
low complexity region 680 698 N/A INTRINSIC
low complexity region 714 741 N/A INTRINSIC
low complexity region 766 775 N/A INTRINSIC
low complexity region 781 799 N/A INTRINSIC
low complexity region 808 824 N/A INTRINSIC
internal_repeat_4 826 860 7.23e-5 PROSPERO
low complexity region 873 903 N/A INTRINSIC
internal_repeat_3 904 951 4.43e-5 PROSPERO
internal_repeat_1 916 960 1.44e-6 PROSPERO
low complexity region 962 978 N/A INTRINSIC
low complexity region 1001 1047 N/A INTRINSIC
low complexity region 1049 1098 N/A INTRINSIC
internal_repeat_2 1103 1143 3.83e-6 PROSPERO
internal_repeat_1 1113 1154 1.44e-6 PROSPERO
internal_repeat_4 1124 1163 7.23e-5 PROSPERO
internal_repeat_3 1125 1174 4.43e-5 PROSPERO
internal_repeat_2 1141 1177 3.83e-6 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000111171
AA Change: P741S
SMART Domains Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293
AA Change: P741S

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: ENSMUST00000184259
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414J04Rik A T 11: 21,507,249 noncoding transcript Het
4933416I08Rik TCC TCCC X: 53,690,895 noncoding transcript Het
Afdn C T 17: 13,846,286 T580I probably benign Het
Ankfy1 G T 11: 72,712,185 L13F probably damaging Het
Arhgap12 T C 18: 6,111,936 T143A probably benign Het
Arsi T G 18: 60,917,352 W436G probably damaging Het
Bcl2l10 C T 9: 75,348,198 T99M probably damaging Het
C77080 A G 4: 129,222,487 S783P possibly damaging Het
Cacna1a A G 8: 84,559,087 Q740R probably damaging Het
Cacna1g A G 11: 94,459,825 F398S probably damaging Het
Ccrl2 A C 9: 111,055,657 Y258D probably damaging Het
Cemip T A 7: 83,999,237 D38V probably damaging Het
Chd6 C G 2: 160,965,483 C1937S possibly damaging Het
Cilp TGGG TGG 9: 65,280,130 probably null Het
Col1a2 T G 6: 4,521,387 probably benign Het
Col4a1 T C 8: 11,240,069 probably null Het
Cops7b T A 1: 86,592,334 L69Q probably damaging Het
Crb1 CG C 1: 139,237,086 probably null Het
Ddx3y T A Y: 1,278,949 D163V possibly damaging Het
Dnajc19 A G 3: 34,078,735 probably benign Het
Fam160b2 T C 14: 70,588,709 T288A possibly damaging Het
G2e3 T A 12: 51,364,030 probably benign Het
Gimap7 A G 6: 48,723,501 N7S probably benign Het
Gkap1 G A 13: 58,263,932 probably benign Het
Gm3404 G A 5: 146,526,896 R117Q probably benign Het
Herc1 T TN 9: 66,434,063 probably benign Homo
Homer3 T C 8: 70,286,335 Y115H probably benign Het
Ighv10-1 T A 12: 114,479,069 M99L probably benign Het
Kdm2b A C 5: 122,932,674 S398R probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mettl25 G A 10: 105,826,027 Q361* probably null Het
Mkrn2 T A 6: 115,613,535 I284N probably damaging Het
Mmp14 T A 14: 54,439,106 N369K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Myo6 C G 9: 80,292,467 N1019K probably damaging Het
Myo7a C T 7: 98,056,767 V1857I probably damaging Het
Nktr T C 9: 121,746,466 S347P probably damaging Het
Nup210 T G 6: 91,030,190 D548A probably damaging Het
Nup210l A G 3: 90,190,887 Y1382C possibly damaging Het
Olfr295 G A 7: 86,586,012 V246M probably damaging Het
Olfr382 T A 11: 73,517,115 Y28F probably benign Het
Pax8 T C 2: 24,421,391 probably benign Het
Pcdhgb7 A G 18: 37,751,882 Y35C probably damaging Het
Pld1 A T 3: 28,029,167 R145S probably benign Het
Rarb T C 14: 16,436,910 N204D probably damaging Het
Sdc3 A G 4: 130,821,504 E337G probably benign Het
Serpina9 T C 12: 104,001,437 K233R probably null Het
Speer4c A C 5: 15,714,216 probably benign Het
Sspo T A 6: 48,451,065 M159K probably benign Het
Stxbp4 C A 11: 90,607,184 R96S probably damaging Het
Tg A C 15: 66,740,718 E375A probably damaging Het
Tmem176b A G 6: 48,838,353 V2A probably benign Het
Toporsl G A 4: 52,610,281 C58Y probably damaging Het
Ugt1a1 AT A 1: 88,212,371 probably null Het
Vav3 T C 3: 109,563,094 probably benign Het
Zfp180 T A 7: 24,104,745 D196E possibly damaging Het
Zfp407 C T 18: 84,209,955 S1843N probably damaging Het
Other mutations in Pom121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pom121 APN 5 135391706 missense unknown
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
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
Predicted Primers PCR Primer
(F):5'- TGGTCACTCCAAAGCCAAAG -3'
(R):5'- GTTTGGGATGCTGAGTCCAC -3'

Sequencing Primer
(F):5'- CAGGCTTTGAGGCAGAAGCTG -3'
(R):5'- ATGCTGAGTCCACCTGCCAG -3'
Posted On2017-01-30