Incidental Mutation 'R4004:Nup42'
ID 311385
Institutional Source Beutler Lab
Gene Symbol Nup42
Ensembl Gene ENSMUSG00000048439
Gene Name nucleoporin 42
Synonyms Nupl2, CG1
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R4004 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24369961-24389011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24387434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 408 (I408T)
Ref Sequence ENSEMBL: ENSMUSP00000062766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049887] [ENSMUST00000115101]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049887
AA Change: I408T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439
AA Change: I408T

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 2e-10 BLAST
low complexity region 23 41 N/A INTRINSIC
coiled coil region 174 195 N/A INTRINSIC
low complexity region 266 287 N/A INTRINSIC
low complexity region 305 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115101
SMART Domains Protein: ENSMUSP00000110753
Gene: ENSMUSG00000048439

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 3e-9 BLAST
low complexity region 23 41 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124150
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,750,435 (GRCm39) E1735D probably damaging Het
Ano2 A G 6: 125,990,242 (GRCm39) R788G probably damaging Het
Atg9a T C 1: 75,163,095 (GRCm39) Y335C probably damaging Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cblif T G 19: 11,736,371 (GRCm39) V314G probably damaging Het
Ces1d A T 8: 93,904,720 (GRCm39) F340Y probably benign Het
Cspg4b A G 13: 113,454,914 (GRCm39) Q320R probably benign Het
Ctbp2 C A 7: 132,593,502 (GRCm39) R733L probably benign Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Dync2h1 C A 9: 7,117,404 (GRCm39) C62F probably damaging Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fcgr1 A G 3: 96,191,668 (GRCm39) V380A probably benign Het
Herc2 C A 7: 55,756,213 (GRCm39) P751Q possibly damaging Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Kctd3 A G 1: 188,724,940 (GRCm39) S214P probably benign Het
Lrpap1 T A 5: 35,262,888 (GRCm39) K50* probably null Het
Naa11 A T 5: 97,539,652 (GRCm39) Y169N probably benign Het
Or1af1 A T 2: 37,109,960 (GRCm39) H153L probably benign Het
Or2t35 C T 14: 14,408,152 (GRCm38) A308V probably benign Het
Plxnc1 G A 10: 94,630,459 (GRCm39) Q1512* probably null Het
Ptpn14 A G 1: 189,582,707 (GRCm39) N518S probably benign Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Ric1 C T 19: 29,557,201 (GRCm39) R429C probably benign Het
Rpn2 T C 2: 157,159,928 (GRCm39) L548P probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Slc28a1 T C 7: 80,818,786 (GRCm39) S580P probably damaging Het
Slco6c1 A G 1: 97,003,610 (GRCm39) Y496H probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Utp11 A T 4: 124,576,230 (GRCm39) F138I probably damaging Het
Vcp G A 4: 42,983,028 (GRCm39) T606I probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp316 A G 5: 143,240,874 (GRCm39) S382P possibly damaging Het
Other mutations in Nup42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Nup42 APN 5 24,387,041 (GRCm39) missense possibly damaging 0.92
IGL01992:Nup42 APN 5 24,386,101 (GRCm39) missense probably benign 0.01
IGL02638:Nup42 APN 5 24,380,505 (GRCm39) missense probably benign 0.03
IGL03197:Nup42 APN 5 24,372,463 (GRCm39) missense probably damaging 0.98
R1484:Nup42 UTSW 5 24,383,075 (GRCm39) missense probably benign 0.08
R2004:Nup42 UTSW 5 24,386,989 (GRCm39) nonsense probably null
R3617:Nup42 UTSW 5 24,387,325 (GRCm39) missense probably benign 0.04
R4547:Nup42 UTSW 5 24,382,968 (GRCm39) intron probably benign
R4669:Nup42 UTSW 5 24,387,415 (GRCm39) missense probably benign 0.21
R5974:Nup42 UTSW 5 24,372,400 (GRCm39) missense probably damaging 1.00
R6189:Nup42 UTSW 5 24,380,452 (GRCm39) missense probably damaging 1.00
R6315:Nup42 UTSW 5 24,372,502 (GRCm39) missense probably damaging 0.97
R6914:Nup42 UTSW 5 24,386,082 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGAAGCGGCAGTTCTGTG -3'
(R):5'- TTCAAAGCCATTCAGAGCTTTC -3'

Sequencing Primer
(F):5'- AGTCCTAGCCCACATTCTCAGG -3'
(R):5'- GAGCTTTCTCTTGGAGGTCTC -3'
Posted On 2015-04-29