Incidental Mutation 'IGL02445:Nap1l3'
ID293540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nap1l3
Ensembl Gene ENSMUSG00000055733
Gene Namenucleosome assembly protein 1-like 3
SynonymsMB20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL02445
Quality Score
Status
ChromosomeX
Chromosomal Location122394565-122397401 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122396055 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 322 (V322D)
Ref Sequence ENSEMBL: ENSMUSP00000078453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079490]
Predicted Effect probably damaging
Transcript: ENSMUST00000079490
AA Change: V322D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078453
Gene: ENSMUSG00000055733
AA Change: V322D

DomainStartEndE-ValueType
low complexity region 28 83 N/A INTRINSIC
Pfam:NAP 117 525 1.9e-85 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked mental retardation syndromes. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging Het
Other mutations in Nap1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03256:Nap1l3 APN X 122396208 missense probably benign 0.02
R3703:Nap1l3 UTSW X 122395524 missense possibly damaging 0.86
R3831:Nap1l3 UTSW X 122396298 missense possibly damaging 0.51
R3833:Nap1l3 UTSW X 122396298 missense possibly damaging 0.51
Posted On2015-04-16