Incidental Mutation 'R5414:Nploc4'
ID 427651
Institutional Source Beutler Lab
Gene Symbol Nploc4
Ensembl Gene ENSMUSG00000039703
Gene Name NPL4 homolog, ubiquitin recognition factor
Synonyms
MMRRC Submission 042983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5414 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120271196-120328534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120304469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 251 (Y251N)
Ref Sequence ENSEMBL: ENSMUSP00000099306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044271] [ENSMUST00000103017]
AlphaFold P60670
Predicted Effect probably damaging
Transcript: ENSMUST00000044271
AA Change: Y251N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: Y251N

DomainStartEndE-ValueType
Pfam:UN_NPL4 1 80 1.1e-36 PFAM
Pfam:zf-NPL4 105 245 2.1e-64 PFAM
Pfam:NPL4 248 557 4.8e-129 PFAM
ZnF_RBZ 582 606 8.4e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103017
AA Change: Y251N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: Y251N

DomainStartEndE-ValueType
Pfam:UN_NPL4 1 80 7e-38 PFAM
Pfam:zf-NPL4 104 246 1.1e-61 PFAM
Pfam:NPL4 248 455 1.8e-87 PFAM
Pfam:NPL4 451 525 3e-15 PFAM
ZnF_RBZ 550 574 8.4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136095
Meta Mutation Damage Score 0.8933 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,205,448 (GRCm39) S278P probably damaging Het
Acan A G 7: 78,750,736 (GRCm39) T1836A probably benign Het
Akr1c18 T A 13: 4,186,734 (GRCm39) D238V probably damaging Het
Akt3 A G 1: 176,877,817 (GRCm39) V317A probably damaging Het
Atp2b2 G A 6: 113,819,102 (GRCm39) P64S probably damaging Het
Atr A G 9: 95,752,757 (GRCm39) N609S probably benign Het
Bcat1 A G 6: 144,961,173 (GRCm39) probably null Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Cd34 A G 1: 194,630,219 (GRCm39) E51G probably benign Het
Celsr3 A G 9: 108,717,241 (GRCm39) E2161G possibly damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Cnih1 T C 14: 47,016,440 (GRCm39) T105A probably benign Het
Coro1c A G 5: 113,986,607 (GRCm39) I279T possibly damaging Het
Ddx11 A G 17: 66,455,763 (GRCm39) T721A probably benign Het
Fbn2 C A 18: 58,226,477 (GRCm39) A766S probably damaging Het
Focad C T 4: 88,328,939 (GRCm39) probably benign Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp2b T C 3: 142,304,852 (GRCm39) L96P probably damaging Het
Gm10192 T C 4: 97,071,346 (GRCm39) S20G probably null Het
Gm10288 T C 3: 146,544,717 (GRCm39) noncoding transcript Het
Gm4181 C T 14: 51,873,047 (GRCm39) probably null Het
Gm6327 T A 16: 12,578,222 (GRCm39) noncoding transcript Het
Hfm1 A G 5: 107,049,942 (GRCm39) I409T probably damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Ifit1bl1 T A 19: 34,571,324 (GRCm39) I378F probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Krt33b T C 11: 99,920,612 (GRCm39) T14A probably benign Het
Lrch3 T A 16: 32,806,335 (GRCm39) probably null Het
Mycbp2 A T 14: 103,543,697 (GRCm39) L226H probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4b12 T C 2: 90,096,046 (GRCm39) T243A probably benign Het
Pdk4 T C 6: 5,485,499 (GRCm39) I397V probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pgm5 A G 19: 24,686,689 (GRCm39) I506T probably damaging Het
Pgs1 T G 11: 117,905,502 (GRCm39) I499S probably damaging Het
Ppp6r3 A G 19: 3,557,330 (GRCm39) S253P probably damaging Het
Prag1 C G 8: 36,606,776 (GRCm39) P839R probably benign Het
Rin3 C T 12: 102,356,116 (GRCm39) Q806* probably null Het
Ros1 T C 10: 52,031,189 (GRCm39) D484G probably damaging Het
Scamp5 A G 9: 57,354,507 (GRCm39) V49A probably benign Het
Sis C A 3: 72,859,826 (GRCm39) V310L probably benign Het
Svep1 T C 4: 58,206,322 (GRCm39) T19A possibly damaging Het
Tcstv2b A C 13: 120,373,872 (GRCm39) D139E probably damaging Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Thra A G 11: 98,651,783 (GRCm39) I102V probably benign Het
Trim30a A C 7: 104,060,348 (GRCm39) V476G probably damaging Het
Vmn2r3 T A 3: 64,166,978 (GRCm39) R718* probably null Het
Washc4 A G 10: 83,391,967 (GRCm39) T218A possibly damaging Het
Xrcc1 A G 7: 24,269,643 (GRCm39) Y401C probably damaging Het
Zfp629 T C 7: 127,210,454 (GRCm39) T452A probably damaging Het
Other mutations in Nploc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Nploc4 APN 11 120,280,198 (GRCm39) missense probably benign 0.06
IGL03373:Nploc4 APN 11 120,300,455 (GRCm39) nonsense probably null
P0041:Nploc4 UTSW 11 120,309,157 (GRCm39) missense probably damaging 1.00
R0200:Nploc4 UTSW 11 120,304,507 (GRCm39) missense probably damaging 1.00
R0608:Nploc4 UTSW 11 120,304,507 (GRCm39) missense probably damaging 1.00
R1401:Nploc4 UTSW 11 120,274,115 (GRCm39) splice site probably benign
R1465:Nploc4 UTSW 11 120,299,607 (GRCm39) missense probably damaging 0.98
R1465:Nploc4 UTSW 11 120,299,607 (GRCm39) missense probably damaging 0.98
R1722:Nploc4 UTSW 11 120,273,395 (GRCm39) missense probably benign 0.02
R1919:Nploc4 UTSW 11 120,295,055 (GRCm39) missense probably damaging 1.00
R2436:Nploc4 UTSW 11 120,309,143 (GRCm39) missense possibly damaging 0.79
R4603:Nploc4 UTSW 11 120,276,613 (GRCm39) missense probably benign 0.00
R4771:Nploc4 UTSW 11 120,312,260 (GRCm39) missense possibly damaging 0.47
R5179:Nploc4 UTSW 11 120,299,682 (GRCm39) missense probably benign 0.02
R5361:Nploc4 UTSW 11 120,275,389 (GRCm39) missense probably damaging 1.00
R5567:Nploc4 UTSW 11 120,275,440 (GRCm39) missense probably benign 0.00
R5570:Nploc4 UTSW 11 120,275,440 (GRCm39) missense probably benign 0.00
R6259:Nploc4 UTSW 11 120,276,691 (GRCm39) missense probably benign 0.01
R6547:Nploc4 UTSW 11 120,319,348 (GRCm39) critical splice donor site probably null
R6683:Nploc4 UTSW 11 120,274,156 (GRCm39) missense probably damaging 0.98
R7134:Nploc4 UTSW 11 120,276,614 (GRCm39) missense probably benign 0.02
R7256:Nploc4 UTSW 11 120,319,376 (GRCm39) missense probably benign
R7284:Nploc4 UTSW 11 120,307,196 (GRCm39) missense possibly damaging 0.89
R7386:Nploc4 UTSW 11 120,299,707 (GRCm39) missense probably benign 0.17
R8130:Nploc4 UTSW 11 120,280,240 (GRCm39) missense possibly damaging 0.80
R8835:Nploc4 UTSW 11 120,309,122 (GRCm39) missense possibly damaging 0.95
R9031:Nploc4 UTSW 11 120,319,368 (GRCm39) missense probably damaging 1.00
R9075:Nploc4 UTSW 11 120,304,526 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- ATGTGTGCATGTCCAAGAGC -3'
(R):5'- CATGCATGCAGGAGGAGTAC -3'

Sequencing Primer
(F):5'- TGTGCATGTCCAAGAGCATACAG -3'
(R):5'- ATCCGTAACGAGATCTGGCG -3'
Posted On 2016-09-01