Incidental Mutation 'R1646:Npat'
ID 173887
Institutional Source Beutler Lab
Gene Symbol Npat
Ensembl Gene ENSMUSG00000033054
Gene Name nuclear protein in the AT region
Synonyms
MMRRC Submission 039682-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1646 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53448347-53485642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53466434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 241 (V241A)
Ref Sequence ENSEMBL: ENSMUSP00000048709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035850]
AlphaFold Q8BMA5
Predicted Effect probably benign
Transcript: ENSMUST00000035850
AA Change: V241A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: V241A

DomainStartEndE-ValueType
LisH 3 35 3.09e-3 SMART
low complexity region 585 592 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Pfam:NPAT_C 754 1420 4.7e-299 PFAM
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 96% (69/72)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T G 4: 63,302,129 (GRCm39) I581L probably benign Het
Cacnb4 A G 2: 52,364,912 (GRCm39) I117T possibly damaging Het
Capn1 A T 19: 6,047,760 (GRCm39) F434L probably benign Het
Cbs T C 17: 31,832,169 (GRCm39) T547A probably benign Het
Col6a5 A T 9: 105,739,948 (GRCm39) L2557* probably null Het
Dach1 A G 14: 98,406,550 (GRCm39) S66P unknown Het
Ddx31 T C 2: 28,782,532 (GRCm39) V625A probably benign Het
Dmxl1 T G 18: 50,095,328 (GRCm39) V2969G probably damaging Het
Eapp T A 12: 54,732,745 (GRCm39) K122* probably null Het
Elapor1 A T 3: 108,370,306 (GRCm39) S751T probably damaging Het
Epb41l5 G T 1: 119,477,752 (GRCm39) probably benign Het
Fat1 T C 8: 45,471,079 (GRCm39) S1628P probably damaging Het
Fgfr2 T A 7: 129,844,374 (GRCm39) E37V probably damaging Het
Fgfr4 A T 13: 55,313,777 (GRCm39) N529Y probably damaging Het
Fsip2 A T 2: 82,808,861 (GRCm39) T1727S probably benign Het
Gak A T 5: 108,750,720 (GRCm39) S397T probably damaging Het
Gm6040 T A 8: 21,407,113 (GRCm39) I36F possibly damaging Het
Grhl1 A G 12: 24,661,860 (GRCm39) D513G possibly damaging Het
Gstt1 T A 10: 75,619,940 (GRCm39) D219V possibly damaging Het
Hcfc2 T G 10: 82,536,861 (GRCm39) V91G probably damaging Het
Hells A T 19: 38,956,227 (GRCm39) I808L probably benign Het
Icmt T A 4: 152,384,172 (GRCm39) V110E possibly damaging Het
Ilrun A G 17: 28,012,934 (GRCm39) S88P probably damaging Het
Iqca1 C T 1: 90,067,760 (GRCm39) V164M probably damaging Het
Klri1 G A 6: 129,680,299 (GRCm39) P119S probably benign Het
Krt71 C A 15: 101,647,199 (GRCm39) probably null Het
Lpin1 A G 12: 16,623,659 (GRCm39) probably null Het
Macir A T 1: 97,573,531 (GRCm39) I178N probably damaging Het
Metap2 T C 10: 93,706,059 (GRCm39) H241R probably damaging Het
Myh15 A G 16: 49,015,931 (GRCm39) Y1869C probably damaging Het
Myo1h G A 5: 114,455,693 (GRCm39) G59E possibly damaging Het
Ncam2 T G 16: 81,262,594 (GRCm39) probably benign Het
Npbwr1 C A 1: 5,987,473 (GRCm39) V14L probably benign Het
Nup37 T A 10: 88,014,096 (GRCm39) V323E possibly damaging Het
Or11g27 A T 14: 50,771,040 (GRCm39) Q57L probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or5p59 C T 7: 107,702,798 (GRCm39) T94I probably benign Het
Or7a35 C A 10: 78,853,340 (GRCm39) Y61* probably null Het
Pdlim4 A T 11: 53,947,080 (GRCm39) L132Q possibly damaging Het
Ptcd3 T C 6: 71,875,379 (GRCm39) D201G probably benign Het
Ptk7 A T 17: 46,897,223 (GRCm39) F370I probably benign Het
Pus7l T C 15: 94,431,517 (GRCm39) N371D probably benign Het
Pzp G A 6: 128,480,518 (GRCm39) A589V probably benign Het
Rasef T A 4: 73,652,786 (GRCm39) R572W probably damaging Het
Reep5 T C 18: 34,482,712 (GRCm39) T166A probably benign Het
Rhov A G 2: 119,101,501 (GRCm39) V35A probably damaging Het
Ripk4 C T 16: 97,545,097 (GRCm39) G517R probably damaging Het
Rnasel A G 1: 153,630,800 (GRCm39) T439A probably damaging Het
Slamf9 A G 1: 172,304,907 (GRCm39) T174A probably benign Het
Slc12a9 A G 5: 137,321,411 (GRCm39) L414P probably damaging Het
Slf1 G A 13: 77,214,767 (GRCm39) R640* probably null Het
Slfn8 G T 11: 82,907,712 (GRCm39) P277Q probably damaging Het
Stpg2 T A 3: 139,125,463 (GRCm39) probably benign Het
Tm9sf3 A C 19: 41,211,618 (GRCm39) N408K possibly damaging Het
Trio A G 15: 27,758,433 (GRCm39) V2049A possibly damaging Het
Ttn A T 2: 76,645,077 (GRCm39) I11180N probably damaging Het
Ush2a T C 1: 188,148,018 (GRCm39) C982R probably damaging Het
Usp36 C T 11: 118,164,392 (GRCm39) V207M probably damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vasp G A 7: 18,994,903 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,578,513 (GRCm39) F662S probably damaging Het
Vmn2r54 A T 7: 12,366,434 (GRCm39) C167S probably damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Wasf2 A G 4: 132,903,902 (GRCm39) I37V probably benign Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zfp317 A G 9: 19,558,608 (GRCm39) Y274C probably damaging Het
Zhx3 T C 2: 160,623,195 (GRCm39) Y324C probably damaging Het
Zzef1 T C 11: 72,754,862 (GRCm39) probably null Het
Other mutations in Npat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Npat APN 9 53,478,100 (GRCm39) missense possibly damaging 0.82
IGL00503:Npat APN 9 53,483,949 (GRCm39) utr 3 prime probably benign
IGL00694:Npat APN 9 53,474,817 (GRCm39) missense probably benign 0.00
IGL00731:Npat APN 9 53,473,386 (GRCm39) missense probably damaging 0.99
IGL00907:Npat APN 9 53,474,590 (GRCm39) missense possibly damaging 0.64
IGL00949:Npat APN 9 53,474,662 (GRCm39) missense probably benign 0.17
IGL01403:Npat APN 9 53,466,429 (GRCm39) missense probably benign 0.02
IGL01626:Npat APN 9 53,467,871 (GRCm39) missense possibly damaging 0.92
IGL01936:Npat APN 9 53,469,526 (GRCm39) splice site probably benign
IGL02142:Npat APN 9 53,481,207 (GRCm39) missense probably benign
IGL02215:Npat APN 9 53,470,417 (GRCm39) missense probably benign 0.00
IGL02250:Npat APN 9 53,460,251 (GRCm39) nonsense probably null
IGL02624:Npat APN 9 53,478,110 (GRCm39) missense probably damaging 1.00
IGL02928:Npat APN 9 53,478,138 (GRCm39) splice site probably benign
IGL02931:Npat APN 9 53,482,341 (GRCm39) nonsense probably null
IGL03128:Npat APN 9 53,461,333 (GRCm39) splice site probably benign
IGL03238:Npat APN 9 53,481,726 (GRCm39) missense probably damaging 0.98
Flotsam UTSW 9 53,481,870 (GRCm39) nonsense probably null
kindling UTSW 9 53,474,749 (GRCm39) missense probably damaging 0.99
R0606:Npat UTSW 9 53,467,781 (GRCm39) critical splice donor site probably null
R0688:Npat UTSW 9 53,481,522 (GRCm39) missense probably benign 0.18
R0839:Npat UTSW 9 53,456,480 (GRCm39) missense probably damaging 0.99
R0947:Npat UTSW 9 53,481,624 (GRCm39) missense probably benign 0.08
R1070:Npat UTSW 9 53,483,892 (GRCm39) missense probably damaging 1.00
R1480:Npat UTSW 9 53,474,366 (GRCm39) frame shift probably null
R1599:Npat UTSW 9 53,473,704 (GRCm39) missense possibly damaging 0.62
R1644:Npat UTSW 9 53,481,472 (GRCm39) missense probably damaging 1.00
R1699:Npat UTSW 9 53,473,960 (GRCm39) missense probably benign
R1765:Npat UTSW 9 53,481,522 (GRCm39) missense probably benign 0.00
R1793:Npat UTSW 9 53,463,589 (GRCm39) missense probably damaging 1.00
R1866:Npat UTSW 9 53,474,416 (GRCm39) missense probably damaging 1.00
R1898:Npat UTSW 9 53,474,937 (GRCm39) missense probably damaging 1.00
R2018:Npat UTSW 9 53,473,791 (GRCm39) missense probably benign 0.34
R2019:Npat UTSW 9 53,473,791 (GRCm39) missense probably benign 0.34
R2213:Npat UTSW 9 53,463,681 (GRCm39) missense probably benign 0.00
R2432:Npat UTSW 9 53,469,435 (GRCm39) missense probably damaging 1.00
R3816:Npat UTSW 9 53,481,216 (GRCm39) missense probably damaging 0.99
R4764:Npat UTSW 9 53,483,920 (GRCm39) missense probably damaging 1.00
R4889:Npat UTSW 9 53,473,507 (GRCm39) missense probably benign 0.00
R4895:Npat UTSW 9 53,481,789 (GRCm39) missense probably damaging 1.00
R4923:Npat UTSW 9 53,482,330 (GRCm39) missense probably damaging 1.00
R5377:Npat UTSW 9 53,461,336 (GRCm39) critical splice acceptor site probably null
R5397:Npat UTSW 9 53,481,774 (GRCm39) missense probably damaging 1.00
R5504:Npat UTSW 9 53,481,564 (GRCm39) missense probably benign 0.01
R5509:Npat UTSW 9 53,481,542 (GRCm39) missense probably benign 0.00
R5563:Npat UTSW 9 53,474,427 (GRCm39) missense probably damaging 0.97
R5677:Npat UTSW 9 53,466,400 (GRCm39) missense probably benign 0.00
R5868:Npat UTSW 9 53,481,424 (GRCm39) missense probably damaging 0.96
R5927:Npat UTSW 9 53,473,521 (GRCm39) nonsense probably null
R6009:Npat UTSW 9 53,474,749 (GRCm39) missense probably damaging 0.99
R6247:Npat UTSW 9 53,456,538 (GRCm39) missense probably damaging 1.00
R6434:Npat UTSW 9 53,474,739 (GRCm39) missense possibly damaging 0.81
R6784:Npat UTSW 9 53,469,458 (GRCm39) missense probably damaging 1.00
R6799:Npat UTSW 9 53,462,930 (GRCm39) missense probably benign 0.21
R6878:Npat UTSW 9 53,467,899 (GRCm39) missense probably benign
R7027:Npat UTSW 9 53,481,216 (GRCm39) missense possibly damaging 0.90
R7383:Npat UTSW 9 53,474,078 (GRCm39) missense probably benign
R7404:Npat UTSW 9 53,466,233 (GRCm39) splice site probably null
R7408:Npat UTSW 9 53,481,216 (GRCm39) missense probably damaging 0.99
R7444:Npat UTSW 9 53,460,210 (GRCm39) missense probably damaging 0.97
R7755:Npat UTSW 9 53,470,470 (GRCm39) missense possibly damaging 0.92
R7992:Npat UTSW 9 53,474,167 (GRCm39) missense probably benign 0.00
R8108:Npat UTSW 9 53,482,429 (GRCm39) missense probably benign 0.00
R8126:Npat UTSW 9 53,463,634 (GRCm39) missense probably benign
R8213:Npat UTSW 9 53,481,870 (GRCm39) nonsense probably null
R8354:Npat UTSW 9 53,478,251 (GRCm39) missense possibly damaging 0.93
R8429:Npat UTSW 9 53,481,909 (GRCm39) nonsense probably null
R8454:Npat UTSW 9 53,478,251 (GRCm39) missense possibly damaging 0.93
R8865:Npat UTSW 9 53,481,940 (GRCm39) missense probably benign 0.00
R8894:Npat UTSW 9 53,467,951 (GRCm39) missense probably damaging 1.00
R9045:Npat UTSW 9 53,474,776 (GRCm39) missense possibly damaging 0.83
R9375:Npat UTSW 9 53,474,456 (GRCm39) missense possibly damaging 0.69
R9511:Npat UTSW 9 53,473,406 (GRCm39) missense probably benign 0.02
R9723:Npat UTSW 9 53,481,861 (GRCm39) missense probably damaging 1.00
R9723:Npat UTSW 9 53,473,746 (GRCm39) missense probably benign 0.01
Z1177:Npat UTSW 9 53,478,128 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GCTTGTACACTTAGGACCACAGAGCTA -3'
(R):5'- GTCGGGTTCTCTAACTGCTACTTTCAG -3'

Sequencing Primer
(F):5'- gtttttccattcacttgttttctttc -3'
(R):5'- ttggttttccccgagacag -3'
Posted On 2014-04-24