Incidental Mutation 'IGL01626:Npat'
ID 92727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npat
Ensembl Gene ENSMUSG00000033054
Gene Name nuclear protein in the AT region
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01626
Quality Score
Status
Chromosome 9
Chromosomal Location 53448347-53485642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53467871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 275 (D275E)
Ref Sequence ENSEMBL: ENSMUSP00000048709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035850]
AlphaFold Q8BMA5
Predicted Effect possibly damaging
Transcript: ENSMUST00000035850
AA Change: D275E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: D275E

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,595 (GRCm39) D188G probably damaging Het
Aoc1 A G 6: 48,883,465 (GRCm39) Y447C probably damaging Het
Brd1 A T 15: 88,585,090 (GRCm39) L915M probably damaging Het
Cacna2d3 T A 14: 28,665,564 (GRCm39) E152D possibly damaging Het
Dnase2b A G 3: 146,290,371 (GRCm39) probably null Het
Ecpas G A 4: 58,832,814 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,181 (GRCm39) V1860A probably damaging Het
Fbxl5 C A 5: 43,916,047 (GRCm39) G455V probably benign Het
Fpr-rs4 G A 17: 18,242,493 (GRCm39) V167M probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gnptab A G 10: 88,273,357 (GRCm39) T1045A probably damaging Het
Gucy1a1 T A 3: 82,015,926 (GRCm39) D354V probably damaging Het
Gucy2e A G 11: 69,123,681 (GRCm39) V406A possibly damaging Het
Herc2 T C 7: 55,734,890 (GRCm39) F160S probably benign Het
Ice2 T G 9: 69,314,614 (GRCm39) V42G probably benign Het
L3mbtl4 A G 17: 68,937,197 (GRCm39) Y406C probably damaging Het
Lepr C T 4: 101,590,731 (GRCm39) T103I probably benign Het
Ly75 T A 2: 60,131,359 (GRCm39) M1589L probably benign Het
Map4k3 A G 17: 80,913,238 (GRCm39) V644A probably damaging Het
Micall1 A G 15: 79,014,712 (GRCm39) D696G possibly damaging Het
Muc4 T C 16: 32,555,220 (GRCm39) V8A possibly damaging Het
Myo1h A G 5: 114,453,027 (GRCm39) D9G probably damaging Het
Nop14 T A 5: 34,806,689 (GRCm39) K472* probably null Het
Nt5c1b A G 12: 10,424,798 (GRCm39) T115A probably benign Het
Or2d3c A T 7: 106,526,627 (GRCm39) I13N probably benign Het
Or6n1 A G 1: 173,917,122 (GRCm39) N172S probably damaging Het
Pnpla7 T A 2: 24,940,905 (GRCm39) S1086T possibly damaging Het
Pold1 C T 7: 44,182,796 (GRCm39) probably null Het
Ppfia1 A G 7: 144,035,456 (GRCm39) F1165L probably benign Het
Prlr T A 15: 10,328,804 (GRCm39) D426E probably benign Het
Ptgs2 G A 1: 149,979,478 (GRCm39) R231H probably damaging Het
Rorc A G 3: 94,296,094 (GRCm39) D91G probably damaging Het
Scaper C T 9: 55,819,335 (GRCm39) V127M possibly damaging Het
Sema3g A T 14: 30,943,684 (GRCm39) Y188F probably damaging Het
Slc45a3 G T 1: 131,906,725 (GRCm39) A400S possibly damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Spg11 T A 2: 121,891,452 (GRCm39) H1973L probably damaging Het
Srgap3 A G 6: 112,750,609 (GRCm39) Y359H probably damaging Het
Stx16 T G 2: 173,935,813 (GRCm39) I248S probably damaging Het
Sytl3 A G 17: 7,002,839 (GRCm39) R287G probably damaging Het
Tiam1 T C 16: 89,609,856 (GRCm39) T82A probably damaging Het
Trpm1 T C 7: 63,918,637 (GRCm39) L659P probably damaging Het
Ttc13 G A 8: 125,400,477 (GRCm39) probably benign Het
Unc80 T C 1: 66,590,213 (GRCm39) probably null Het
Vldlr G T 19: 27,221,173 (GRCm39) R613L probably damaging Het
Wdr77 C T 3: 105,867,002 (GRCm39) R35* probably null Het
Zc3h14 T G 12: 98,745,445 (GRCm39) I478R possibly damaging Het
Zfp366 A G 13: 99,364,920 (GRCm39) H27R probably damaging 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
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 53,481,861 (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
Posted On 2013-12-09