Incidental Mutation 'IGL01936:Npat'
ID 180716
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 # IGL01936
Quality Score
Status
Chromosome 9
Chromosomal Location 53448347-53485642 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 53469526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035850]
AlphaFold Q8BMA5
Predicted Effect probably benign
Transcript: ENSMUST00000035850
SMART Domains Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Arhgap31 T A 16: 38,423,287 (GRCm39) L926F probably damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Drc7 T A 8: 95,800,760 (GRCm39) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kdm4b T A 17: 56,704,355 (GRCm39) V813E probably damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Psmb8 T A 17: 34,419,168 (GRCm39) L154Q probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P 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
IGL01626:Npat APN 9 53,467,871 (GRCm39) missense possibly damaging 0.92
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 2014-05-07