Incidental Mutation 'R2436:Nploc4'
ID249597
Institutional Source Beutler Lab
Gene Symbol Nploc4
Ensembl Gene ENSMUSG00000039703
Gene NameNPL4 homolog, ubiquitin recognition factor
Synonyms
MMRRC Submission 040397-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2436 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location120380370-120437708 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120418317 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 153 (N153S)
Ref Sequence ENSEMBL: ENSMUSP00000099306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044271] [ENSMUST00000103017]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044271
AA Change: N153S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: N153S

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 possibly damaging
Transcript: ENSMUST00000103017
AA Change: N153S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: N153S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,761,945 S277P possibly damaging Het
Arl6ip4 T C 5: 124,116,599 S52P probably benign Het
Barx2 T C 9: 31,913,087 H2R probably damaging Het
Calhm3 T C 19: 47,151,965 T230A probably damaging Het
Card11 C T 5: 140,882,362 V844M possibly damaging Het
Dnah6 C T 6: 73,149,173 R1327Q probably benign Het
Ehbp1 C A 11: 22,089,524 probably null Het
Fgg T A 3: 83,014,189 I393N possibly damaging Het
Foxq1 A T 13: 31,558,533 probably benign Het
Hmgxb3 T C 18: 61,147,494 T646A probably benign Het
Homer3 G A 8: 70,293,056 E324K possibly damaging Het
Krt80 A G 15: 101,359,503 F183L probably damaging Het
Map3k21 A T 8: 125,941,615 K647* probably null Het
Mcm3ap A G 10: 76,490,057 Y1067C probably damaging Het
Myh1 G T 11: 67,213,271 Q921H probably benign Het
Nme8 A G 13: 19,677,859 F200S probably damaging Het
Olfr1246 A G 2: 89,590,773 V114A probably benign Het
Olfr173 C T 16: 58,797,244 V201I probably benign Het
Olfr297 T C 7: 86,527,383 F209L probably damaging Het
Olfr319 T C 11: 58,702,126 C142R probably damaging Het
Pipox T A 11: 77,892,117 L86F probably damaging Het
Polr3h G T 15: 81,917,205 L157I probably benign Het
Prex2 G A 1: 11,266,152 V1525M possibly damaging Het
Rapgef2 A T 3: 79,088,772 D561E possibly damaging Het
Sacs A T 14: 61,202,905 D800V possibly damaging Het
Sbsn A T 7: 30,752,230 L223F possibly damaging Het
Slc16a9 TCCCC TCCCCC 10: 70,256,081 probably null Het
Srrm3 G T 5: 135,835,176 E43* probably null Het
Tcaf3 G A 6: 42,593,729 A363V probably damaging Het
Tmem138 A G 19: 10,574,904 F78S probably damaging Het
Tnfrsf17 G A 16: 11,319,812 D138N probably damaging Het
Tubgcp6 C T 15: 89,102,365 V1344I probably benign Het
Usp24 T A 4: 106,409,645 L1875* probably null Het
Vmn2r109 C A 17: 20,554,536 G186C probably damaging Het
Wdr78 T C 4: 103,066,352 I427V probably benign Het
Zfp541 A G 7: 16,076,448 N137D possibly damaging Het
Other mutations in Nploc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Nploc4 APN 11 120389372 missense probably benign 0.06
IGL03373:Nploc4 APN 11 120409629 nonsense probably null
P0041:Nploc4 UTSW 11 120418331 missense probably damaging 1.00
R0200:Nploc4 UTSW 11 120413681 missense probably damaging 1.00
R0608:Nploc4 UTSW 11 120413681 missense probably damaging 1.00
R1401:Nploc4 UTSW 11 120383289 splice site probably benign
R1465:Nploc4 UTSW 11 120408781 missense probably damaging 0.98
R1465:Nploc4 UTSW 11 120408781 missense probably damaging 0.98
R1722:Nploc4 UTSW 11 120382569 missense probably benign 0.02
R1919:Nploc4 UTSW 11 120404229 missense probably damaging 1.00
R4603:Nploc4 UTSW 11 120385787 missense probably benign 0.00
R4771:Nploc4 UTSW 11 120421434 missense possibly damaging 0.47
R5179:Nploc4 UTSW 11 120408856 missense probably benign 0.02
R5361:Nploc4 UTSW 11 120384563 missense probably damaging 1.00
R5414:Nploc4 UTSW 11 120413643 missense probably damaging 0.99
R5567:Nploc4 UTSW 11 120384614 missense probably benign 0.00
R5570:Nploc4 UTSW 11 120384614 missense probably benign 0.00
R6259:Nploc4 UTSW 11 120385865 missense probably benign 0.01
R6547:Nploc4 UTSW 11 120428522 critical splice donor site probably null
R6683:Nploc4 UTSW 11 120383330 missense probably damaging 0.98
R7134:Nploc4 UTSW 11 120385788 missense probably benign 0.02
R7256:Nploc4 UTSW 11 120428550 missense probably benign
R7284:Nploc4 UTSW 11 120416370 missense possibly damaging 0.89
R7386:Nploc4 UTSW 11 120408881 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TTCTGTACTGCAAGGCTTCAC -3'
(R):5'- GACTTTGCAGTCTTCTTAGAGC -3'

Sequencing Primer
(F):5'- GTACTGCAAGGCTTCACTTTTC -3'
(R):5'- ACTTTGCAGTCTTCTTAGAGCTTTAG -3'
Posted On2014-11-12