Incidental Mutation 'R9723:Npat'
ID 730929
Institutional Source Beutler Lab
Gene Symbol Npat
Ensembl Gene ENSMUSG00000033054
Gene Name nuclear protein in the AT region
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 53448347-53485642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53481861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 1190 (L1190V)
Ref Sequence ENSEMBL: ENSMUSP00000048709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035850]
AlphaFold Q8BMA5
Predicted Effect probably damaging
Transcript: ENSMUST00000035850
AA Change: L1190V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: L1190V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 G A 1: 75,156,366 (GRCm39) R133W probably benign Het
Abcc3 T A 11: 94,250,725 (GRCm39) T877S probably benign Het
Alb A T 5: 90,611,962 (GRCm39) K130N probably damaging Het
Alkbh8 G A 9: 3,385,283 (GRCm39) S560N probably benign Het
Angel2 T G 1: 190,671,342 (GRCm39) L234R probably damaging Het
Catip C T 1: 74,403,745 (GRCm39) T154I probably benign Het
Ccdc163 C T 4: 116,569,595 (GRCm39) Q102* probably null Het
Cep250 A G 2: 155,823,337 (GRCm39) E997G probably benign Het
Ces2f T C 8: 105,677,463 (GRCm39) I183T possibly damaging Het
Commd8 A G 5: 72,318,309 (GRCm39) V158A possibly damaging Het
Cyp2b9 C T 7: 25,909,596 (GRCm39) Q455* probably null Het
D5Ertd579e G T 5: 36,772,284 (GRCm39) H704N probably damaging Het
Dnah1 T C 14: 30,987,946 (GRCm39) T3491A probably damaging Het
Dnai1 T G 4: 41,603,302 (GRCm39) F195C possibly damaging Het
Dock7 A G 4: 98,908,270 (GRCm39) V620A Het
Dock7 A T 4: 98,960,660 (GRCm39) D289E Het
Dpys T A 15: 39,691,509 (GRCm39) E271V probably damaging Het
Elovl3 T C 19: 46,123,155 (GRCm39) Y244H probably damaging Het
Enam G A 5: 88,652,241 (GRCm39) G1250E probably damaging Het
Espl1 C T 15: 102,229,170 (GRCm39) T1774M probably benign Het
Fasl T C 1: 161,615,535 (GRCm39) K107R probably benign Het
Fbn1 A T 2: 125,202,119 (GRCm39) C1251* probably null Het
Fn1 G T 1: 71,663,369 (GRCm39) Q1040K possibly damaging Het
Frem3 C T 8: 81,341,352 (GRCm39) S1215L probably benign Het
G3bp2 A T 5: 92,214,388 (GRCm39) D135E possibly damaging Het
Gabpb1 C T 2: 126,488,648 (GRCm39) V240I probably benign Het
Galnt12 C G 4: 47,119,541 (GRCm39) Y452* probably null Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Gm12258 C T 11: 58,750,448 (GRCm39) P541L unknown Het
Gm12789 T A 4: 101,846,083 (GRCm39) W115R possibly damaging Het
Gm8126 T C 14: 43,119,141 (GRCm39) probably null Het
Gpr179 A T 11: 97,225,546 (GRCm39) L2203H possibly damaging Het
H1f6 A G 13: 23,879,906 (GRCm39) K20E probably damaging Het
Hapln3 A T 7: 78,771,736 (GRCm39) V51E possibly damaging Het
Ifit1 A G 19: 34,626,257 (GRCm39) *464W probably null Het
Il1r1 A C 1: 40,332,721 (GRCm39) I137L probably benign Het
Il1rap T A 16: 26,442,907 (GRCm39) M1K probably null Het
Lgi2 A G 5: 52,695,843 (GRCm39) L372P probably damaging Het
Lrrc46 A G 11: 96,925,773 (GRCm39) S230P possibly damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mapk8ip3 C A 17: 25,132,585 (GRCm39) W339L possibly damaging Het
Msln A T 17: 25,969,008 (GRCm39) M459K possibly damaging Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Ndst2 G T 14: 20,775,512 (GRCm39) D659E probably benign Het
Npc1 A G 18: 12,343,649 (GRCm39) I448T probably benign Het
Omd T C 13: 49,743,838 (GRCm39) F296S probably damaging Het
Oprm1 A G 10: 6,788,514 (GRCm39) N423S possibly damaging Het
Oxtr G A 6: 112,466,304 (GRCm39) T152I probably benign Het
Pak2 A T 16: 31,852,650 (GRCm39) V297E probably damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pet100 G A 8: 3,672,374 (GRCm39) M20I probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Plekhn1 A G 4: 156,306,875 (GRCm39) S505P probably benign Het
Plin5 G A 17: 56,423,290 (GRCm39) A90V probably damaging Het
Poc5 A G 13: 96,551,026 (GRCm39) T526A probably benign Het
Potefam1 T C 2: 111,058,700 (GRCm39) H84R probably damaging Het
Pramel7 C T 2: 87,320,019 (GRCm39) V425I possibly damaging Het
Rad51d A T 11: 82,781,162 (GRCm39) probably null Het
Rbp3 T C 14: 33,677,474 (GRCm39) M474T possibly damaging Het
Rcan3 A G 4: 135,152,680 (GRCm39) S14P probably benign Het
Rps6ka4 A T 19: 6,816,663 (GRCm39) V140E probably damaging Het
Rsbn1l G A 5: 21,101,464 (GRCm39) S692L possibly damaging Het
Sgk1 A T 10: 21,872,239 (GRCm39) I272F probably damaging Het
Skor1 A G 9: 63,053,714 (GRCm39) V85A probably damaging Het
Slc12a1 A T 2: 125,059,827 (GRCm39) D909V probably damaging Het
Slc25a18 C A 6: 120,770,489 (GRCm39) A283E probably benign Het
Slc41a1 T C 1: 131,772,103 (GRCm39) L411P possibly damaging Het
Spata13 T C 14: 60,928,498 (GRCm39) S19P probably damaging Het
Stab1 T A 14: 30,885,848 (GRCm39) H42L probably benign Het
Stag3 T A 5: 138,298,103 (GRCm39) D698E probably benign Het
Syngap1 G A 17: 27,189,510 (GRCm39) R1305H possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Trappc9 A G 15: 72,461,963 (GRCm39) Y1101H possibly damaging Het
Ttn A G 2: 76,601,929 (GRCm39) Y10251H probably damaging Het
Uhrf1 A G 17: 56,625,061 (GRCm39) K535E probably damaging Het
Usp14 G T 18: 10,009,993 (GRCm39) Q185K probably damaging Het
Usp32 A T 11: 84,935,536 (GRCm39) Y413* probably null Het
Uvssa G A 5: 33,547,382 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,774 (GRCm39) L34Q probably damaging Het
Wdr41 T C 13: 95,151,671 (GRCm39) L277P probably damaging Het
Zc2hc1b T A 10: 13,044,497 (GRCm39) L55F probably damaging Het
Zfp345 A C 2: 150,314,189 (GRCm39) Y449* 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
R1646:Npat UTSW 9 53,466,434 (GRCm39) missense probably benign 0.32
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 53,473,746 (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'- CAGAAACTGCCTCTAGTCGAC -3'
(R):5'- AAGTCAGTATCGGCACTCCTATTG -3'

Sequencing Primer
(F):5'- TGCCTCTAGTCGACACACC -3'
(R):5'- ATCGGCACTCCTATTGGCTGG -3'
Posted On 2022-10-06