Incidental Mutation 'IGL02223:Pom121l2'
ID 285238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pom121l2
Ensembl Gene ENSMUSG00000016982
Gene Name POM121 transmembrane nucleoporin like 2
Synonyms LOC195236
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02223
Quality Score
Status
Chromosome 13
Chromosomal Location 22165364-22172904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22166265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 179 (S179P)
Ref Sequence ENSEMBL: ENSMUSP00000113688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]
AlphaFold Q5SW25
Predicted Effect probably benign
Transcript: ENSMUST00000017126
AA Change: S179P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: S179P

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 3.5e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
low complexity region 517 526 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117882
AA Change: S179P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: S179P

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 2e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Pom121l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Pom121l2 APN 13 22,166,445 (GRCm39) missense possibly damaging 0.70
R0401:Pom121l2 UTSW 13 22,166,395 (GRCm39) missense probably benign 0.01
R0402:Pom121l2 UTSW 13 22,172,649 (GRCm39) splice site probably benign
R0437:Pom121l2 UTSW 13 22,167,375 (GRCm39) missense possibly damaging 0.72
R0575:Pom121l2 UTSW 13 22,168,338 (GRCm39) missense probably damaging 0.99
R0605:Pom121l2 UTSW 13 22,166,206 (GRCm39) missense probably damaging 1.00
R0892:Pom121l2 UTSW 13 22,166,644 (GRCm39) missense possibly damaging 0.49
R0992:Pom121l2 UTSW 13 22,166,929 (GRCm39) missense probably benign 0.01
R1259:Pom121l2 UTSW 13 22,166,297 (GRCm39) nonsense probably null
R1564:Pom121l2 UTSW 13 22,167,523 (GRCm39) missense possibly damaging 0.86
R1603:Pom121l2 UTSW 13 22,167,514 (GRCm39) missense probably damaging 1.00
R1836:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.03
R1970:Pom121l2 UTSW 13 22,167,642 (GRCm39) missense probably damaging 0.98
R2018:Pom121l2 UTSW 13 22,166,904 (GRCm39) missense possibly damaging 0.54
R2180:Pom121l2 UTSW 13 22,166,145 (GRCm39) missense probably benign 0.08
R2277:Pom121l2 UTSW 13 22,168,417 (GRCm39) missense probably benign
R2365:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.20
R3951:Pom121l2 UTSW 13 22,166,298 (GRCm39) missense probably damaging 1.00
R4371:Pom121l2 UTSW 13 22,166,409 (GRCm39) missense probably benign 0.01
R4574:Pom121l2 UTSW 13 22,168,572 (GRCm39) missense probably benign 0.02
R4593:Pom121l2 UTSW 13 22,168,623 (GRCm39) missense probably damaging 1.00
R4983:Pom121l2 UTSW 13 22,167,984 (GRCm39) missense probably benign 0.02
R5320:Pom121l2 UTSW 13 22,166,015 (GRCm39) nonsense probably null
R5661:Pom121l2 UTSW 13 22,168,425 (GRCm39) missense possibly damaging 0.90
R5662:Pom121l2 UTSW 13 22,166,358 (GRCm39) missense probably benign 0.01
R5908:Pom121l2 UTSW 13 22,165,984 (GRCm39) missense probably damaging 0.99
R5980:Pom121l2 UTSW 13 22,167,546 (GRCm39) missense probably damaging 0.96
R6145:Pom121l2 UTSW 13 22,166,472 (GRCm39) nonsense probably null
R6160:Pom121l2 UTSW 13 22,167,838 (GRCm39) missense possibly damaging 0.52
R6327:Pom121l2 UTSW 13 22,166,502 (GRCm39) missense probably damaging 1.00
R6504:Pom121l2 UTSW 13 22,167,631 (GRCm39) missense possibly damaging 0.55
R6745:Pom121l2 UTSW 13 22,167,868 (GRCm39) missense probably benign 0.00
R6750:Pom121l2 UTSW 13 22,166,107 (GRCm39) missense probably damaging 1.00
R6752:Pom121l2 UTSW 13 22,165,939 (GRCm39) missense probably damaging 0.99
R6796:Pom121l2 UTSW 13 22,167,694 (GRCm39) missense probably benign 0.09
R6984:Pom121l2 UTSW 13 22,166,191 (GRCm39) missense probably benign 0.33
R7284:Pom121l2 UTSW 13 22,166,775 (GRCm39) missense probably damaging 1.00
R7287:Pom121l2 UTSW 13 22,168,502 (GRCm39) missense probably benign 0.16
R7568:Pom121l2 UTSW 13 22,166,796 (GRCm39) missense probably benign 0.03
R7624:Pom121l2 UTSW 13 22,167,699 (GRCm39) missense probably damaging 0.97
R7832:Pom121l2 UTSW 13 22,168,048 (GRCm39) missense possibly damaging 0.49
R7956:Pom121l2 UTSW 13 22,167,316 (GRCm39) missense probably damaging 1.00
R8103:Pom121l2 UTSW 13 22,166,544 (GRCm39) missense probably benign 0.00
R8506:Pom121l2 UTSW 13 22,167,789 (GRCm39) missense probably benign 0.04
R9167:Pom121l2 UTSW 13 22,167,160 (GRCm39) missense probably damaging 0.97
R9313:Pom121l2 UTSW 13 22,168,506 (GRCm39) missense probably benign 0.09
R9332:Pom121l2 UTSW 13 22,165,852 (GRCm39) missense probably damaging 1.00
R9463:Pom121l2 UTSW 13 22,168,402 (GRCm39) missense probably benign 0.18
Z1177:Pom121l2 UTSW 13 22,172,656 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16