Incidental Mutation 'IGL02104:Pom121l2'
ID 279899
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 # IGL02104
Quality Score
Status
Chromosome 13
Chromosomal Location 22165364-22172904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22166445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 239 (H239N)
Ref Sequence ENSEMBL: ENSMUSP00000113688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]
AlphaFold Q5SW25
Predicted Effect possibly damaging
Transcript: ENSMUST00000017126
AA Change: H239N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: H239N

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 possibly damaging
Transcript: ENSMUST00000117882
AA Change: H239N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: H239N

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L probably benign Het
Other mutations in Pom121l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Pom121l2 APN 13 22,166,265 (GRCm39) missense probably benign 0.01
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