Incidental Mutation 'FR4342:Naip1'
ID 511288
Institutional Source Beutler Lab
Gene Symbol Naip1
Ensembl Gene ENSMUSG00000021640
Gene Name NLR family, apoptosis inhibitory protein 1
Synonyms Birc1a, D13Lsd1, Naip
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # FR4342 ()
Quality Score 83.0076
Status Not validated
Chromosome 13
Chromosomal Location 100407764-100452869 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100425471 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 1062 (R1062K)
Ref Sequence ENSEMBL: ENSMUSP00000152583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022142] [ENSMUST00000221727] [ENSMUST00000221943] [ENSMUST00000222155]
AlphaFold Q9QWK5
Predicted Effect probably benign
Transcript: ENSMUST00000022142
AA Change: R1062K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: R1062K

DomainStartEndE-ValueType
low complexity region 36 51 N/A INTRINSIC
BIR 58 129 1.18e-20 SMART
BIR 157 229 1.06e-36 SMART
BIR 276 347 7.82e-26 SMART
AAA 462 603 1.14e-2 SMART
low complexity region 908 919 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221727
Predicted Effect probably benign
Transcript: ENSMUST00000221943
Predicted Effect probably benign
Transcript: ENSMUST00000222155
AA Change: R1062K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik TT TTATGT 8: 124,839,833 (GRCm38) probably null Homo
4930402H24Rik TCC TCCCCC 2: 130,770,742 (GRCm38) probably benign Het
4930433I11Rik AACC A 7: 40,993,055 (GRCm38) probably benign Het
4930548H24Rik GAGAAG GAG 5: 31,487,373 (GRCm38) probably benign Homo
7530416G11Rik T A 15: 85,494,307 (GRCm38) E45V unknown Homo
AF366264 G C 8: 13,837,613 (GRCm38) H159Q probably benign Het
Ankrd35 TCCCC TCCC 3: 96,683,515 (GRCm38) probably null Het
Anxa2 CCC CCCACC 9: 69,480,205 (GRCm38) probably benign Het
Anxa2 C CCCA 9: 69,480,210 (GRCm38) probably benign Het
Apc CAATAAAGC CAATAAAGCAAATAAAGC 18: 34,281,999 (GRCm38) probably benign Homo
Arrb2 C T 11: 70,438,671 (GRCm38) T269M probably damaging Homo
Bcas3 G A 11: 85,509,497 (GRCm38) V431I probably benign Homo
Begain CCCCGCC CCCCGCCCCCGCC 12: 109,033,418 (GRCm38) probably benign Homo
Catsper2 TCA TCAACA 2: 121,397,793 (GRCm38) probably benign Het
Cd164 G T 10: 41,521,926 (GRCm38) A59S probably benign Homo
Cd22 C T 7: 30,878,082 (GRCm38) R2H possibly damaging Homo
Cluh GCCTGA GCCTGAACCTGA 11: 74,669,526 (GRCm38) probably benign Het
Cluh GAGCCT GAGCCTCAGCCT 11: 74,669,524 (GRCm38) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,189,575 (GRCm38) probably benign Het
Col2a1 C A 15: 97,988,981 (GRCm38) probably null Het
Col6a5 A T 9: 105,934,174 (GRCm38) N715K unknown Homo
Cpeb4 T TGA 11: 31,927,638 (GRCm38) probably benign Homo
D230025D16Rik G A 8: 105,241,098 (GRCm38) G207E probably benign Homo
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,583,680 (GRCm38) probably benign Het
Defa29 C G 8: 21,326,144 (GRCm38) R69P probably benign Het
Dhx8 CG CGAGAACGG 11: 101,738,206 (GRCm38) probably null Het
Dnah12 G T 14: 26,849,385 (GRCm38) G2817V probably damaging Homo
Dthd1 C CTTA 5: 62,843,026 (GRCm38) probably benign Homo
E4f1 GC GCCCC 17: 24,455,197 (GRCm38) probably benign Het
F830016B08Rik A ACAG 18: 60,299,941 (GRCm38) probably benign Homo
Fam166b CAGAG CAG 4: 43,427,384 (GRCm38) probably null Homo
Fbrsl1 GTGTGTGTGCTGGTGCGTGTGCTGGTG GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG 5: 110,378,125 (GRCm38) probably benign Het
Fbxo22 A C 9: 55,221,070 (GRCm38) probably null Het
Flg G A 3: 93,290,513 (GRCm38) probably benign Het
Fmn1 TCC TCCTCCACC 2: 113,525,783 (GRCm38) probably benign Homo
Frmpd2 G T 14: 33,511,021 (GRCm38) L399F probably damaging Homo
Gbp2b A G 3: 142,603,652 (GRCm38) I175V probably benign Het
Gjc2 T TCCCG 11: 59,182,743 (GRCm38) probably benign Homo
Gm13103 AA AATA 4: 143,851,643 (GRCm38) probably null Homo
Gm14496 A C 2: 181,995,906 (GRCm38) K258Q probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,196,099 (GRCm38) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,196,066 (GRCm38) probably benign Het
Gm7534 G GCTC 4: 134,202,631 (GRCm38) probably benign Homo
Gpatch11 AGAGGA AGAGGATGAGGA 17: 78,842,178 (GRCm38) probably benign Het
H2-Q4 G A 17: 35,380,405 (GRCm38) D155N probably damaging Homo
Hist1h1t TGTGG TG 13: 23,695,913 (GRCm38) probably benign Homo
Hoxa3 G GCTT 6: 52,170,130 (GRCm38) probably benign Homo
Ifi208 ATGGTG ATG 1: 173,677,698 (GRCm38) probably benign Homo
Ighv5-9 C T 12: 113,661,877 (GRCm38) S82N probably benign Homo
Klra10 G A 6: 130,272,747 (GRCm38) R192C probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,586,375 (GRCm38) probably benign Het
Krt10 CGCC CGCCGCC 11: 99,386,199 (GRCm38) probably benign Het
Krt10 ACC ACCCCC 11: 99,386,203 (GRCm38) probably benign Homo
Lce1m CGCTGCTGCTGCCACAGCA C 3: 93,018,247 (GRCm38) probably benign Het
Mak16 T G,A 8: 31,161,749 (GRCm38) E203D probably benign Homo
Med12l AGC AGCGGC 3: 59,275,988 (GRCm38) probably benign Het
Med12l AGCGGC AGCGGCGGC 3: 59,275,994 (GRCm38) probably benign Het
Mn1 AGC AGCGGC 5: 111,419,706 (GRCm38) probably benign Het
Nacad TC TCAGGGGC 11: 6,599,762 (GRCm38) probably benign Het
Ndel1 G A 11: 68,833,409 (GRCm38) P246L probably damaging Het
Nelfe AC ACAAAGAGCGGGATCGAGACAGAGCC 17: 34,854,089 (GRCm38) probably benign Het
Olfr495 G A 7: 108,395,898 (GRCm38) M259I probably benign Het
Olfr495 A G 7: 108,395,893 (GRCm38) T258A probably benign Het
Olfr635 TCC TCCC 7: 103,979,903 (GRCm38) probably null Het
P4ha2 GTGTTGCTG GTG 11: 54,110,251 (GRCm38) probably benign Homo
Park2 G A 17: 11,854,763 (GRCm38) V323M probably damaging Homo
Pde3b GGTGGTGGTG GGTGGTGGTGGTG 7: 114,534,775 (GRCm38) probably benign Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,279,509 (GRCm38) probably benign Homo
Plekhs1 AGAC AGACCTCCCCCGCGAC 19: 56,479,861 (GRCm38) probably benign Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,479,858 (GRCm38) probably benign Homo
Pramef25 AAGAG AAG 4: 143,949,757 (GRCm38) probably null Het
Pramef25 G A 4: 143,949,742 (GRCm38) T264M probably damaging Het
Ptms TCT TCTCCT 6: 124,914,454 (GRCm38) probably benign Homo
Raet1d A G 10: 22,371,559 (GRCm38) Q178R probably benign Het
Rtbdn AGCG AGCGCCGGCG 8: 84,956,168 (GRCm38) probably benign Het
Rtbdn GC GCAGCGCC 8: 84,956,178 (GRCm38) probably benign Het
Serac1 T A 17: 6,070,808 (GRCm38) K70N probably damaging Homo
Sfswap CCCACTC CCCACTCAGACCACTC 5: 129,569,757 (GRCm38) probably benign Homo
Sp110 ACT ACTGCT 1: 85,587,488 (GRCm38) probably benign Het
Spaca1 GCTCTC GCTCTCACTCTC 4: 34,049,838 (GRCm38) probably benign Het
Spag17 GGAGGAGGA GGAGGAGGAGGA 3: 100,056,252 (GRCm38) probably benign Homo
Spag17 GGA GGATGA 3: 100,056,249 (GRCm38) probably benign Het
Speer4a C A 5: 26,036,748 (GRCm38) E127* probably null Het
Sry TGG TGGGGG Y: 2,662,835 (GRCm38) probably benign Het
Sry GGT GGTTGT Y: 2,662,836 (GRCm38) probably benign Het
Sry GGT GGTAGT Y: 2,662,839 (GRCm38) probably benign Homo
Sry CTGCTGGTG CTG Y: 2,663,146 (GRCm38) probably benign Het
Tdpoz3 C T 3: 93,826,512 (GRCm38) P165S probably benign Het
Tdpoz4 GAA GA 3: 93,796,880 (GRCm38) probably null Het
Tert AGGCC AGGCCAAGGGGGCC 13: 73,648,300 (GRCm38) probably benign Homo
Tmbim7 C T 5: 3,670,064 (GRCm38) R100C possibly damaging Homo
Tnfrsf9 CT CTGAT 4: 150,934,394 (GRCm38) probably benign Homo
Tob1 AGC AGCCGC 11: 94,214,472 (GRCm38) probably benign Het
Trav6n-5 GCTT G 14: 53,104,912 (GRCm38) probably benign Homo
Triobp G GTCA 15: 78,993,392 (GRCm38) probably benign Homo
Tsen2 AGG AGGTGG 6: 115,560,072 (GRCm38) probably benign Het
Ubtf TCC TCCGCC 11: 102,306,956 (GRCm38) probably benign Het
Ubtf TC TCCCC 11: 102,306,959 (GRCm38) probably benign Het
Vmn2r125 G A 4: 156,350,965 (GRCm38) V213I probably benign Het
Vmn2r87 C T 10: 130,478,714 (GRCm38) M334I probably benign Homo
Zdhhc16 G A 19: 41,942,149 (GRCm38) probably benign Het
Zfp28 G A 7: 6,394,863 (GRCm38) G766R probably damaging Het
Zfp335 C CCCC 2: 164,907,477 (GRCm38) probably benign Het
Zfp335 GTCGTC GTCGTCGTC 2: 164,907,465 (GRCm38) probably benign Het
Zfp428 G A 7: 24,515,081 (GRCm38) D41N probably damaging Homo
Zfp429 A T 13: 67,396,650 (GRCm38) F48Y probably benign Het
Zfp598 CCACC CCACCCACACC 17: 24,680,780 (GRCm38) probably benign Het
Zfp93 G A 7: 24,275,586 (GRCm38) R332H possibly damaging Het
Other mutations in Naip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Naip1 APN 13 100,443,720 (GRCm38) critical splice acceptor site probably null
IGL01145:Naip1 APN 13 100,409,121 (GRCm38) missense probably benign 0.00
IGL01356:Naip1 APN 13 100,423,214 (GRCm38) missense probably damaging 0.99
IGL01414:Naip1 APN 13 100,409,173 (GRCm38) critical splice acceptor site probably null
IGL01505:Naip1 APN 13 100,425,933 (GRCm38) missense probably damaging 1.00
IGL01573:Naip1 APN 13 100,427,382 (GRCm38) missense probably benign 0.03
IGL01931:Naip1 APN 13 100,409,032 (GRCm38) nonsense probably null
IGL02043:Naip1 APN 13 100,426,796 (GRCm38) missense probably benign 0.03
IGL02097:Naip1 APN 13 100,425,588 (GRCm38) missense probably benign 0.03
IGL02331:Naip1 APN 13 100,426,796 (GRCm38) missense probably benign 0.03
IGL02627:Naip1 APN 13 100,425,648 (GRCm38) missense possibly damaging 0.68
IGL02675:Naip1 APN 13 100,409,118 (GRCm38) missense probably benign
IGL02801:Naip1 APN 13 100,444,368 (GRCm38) missense probably damaging 1.00
IGL02851:Naip1 APN 13 100,433,262 (GRCm38) missense probably damaging 1.00
IGL03038:Naip1 APN 13 100,437,333 (GRCm38) nonsense probably null
IGL03399:Naip1 APN 13 100,408,918 (GRCm38) missense probably damaging 1.00
FR4340:Naip1 UTSW 13 100,423,076 (GRCm38) missense probably benign
R0051:Naip1 UTSW 13 100,411,001 (GRCm38) missense probably damaging 0.96
R0095:Naip1 UTSW 13 100,423,083 (GRCm38) missense probably benign 0.24
R0147:Naip1 UTSW 13 100,426,910 (GRCm38) missense possibly damaging 0.67
R0375:Naip1 UTSW 13 100,409,148 (GRCm38) missense probably benign 0.21
R0442:Naip1 UTSW 13 100,444,516 (GRCm38) missense probably benign 0.00
R0455:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R0491:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R0614:Naip1 UTSW 13 100,444,200 (GRCm38) missense probably benign 0.00
R0785:Naip1 UTSW 13 100,423,076 (GRCm38) missense probably benign
R0785:Naip1 UTSW 13 100,423,085 (GRCm38) missense probably benign 0.00
R0787:Naip1 UTSW 13 100,426,096 (GRCm38) missense probably benign 0.22
R1081:Naip1 UTSW 13 100,423,070 (GRCm38) missense probably benign 0.21
R1177:Naip1 UTSW 13 100,427,064 (GRCm38) missense possibly damaging 0.91
R1476:Naip1 UTSW 13 100,426,870 (GRCm38) missense probably benign 0.35
R1672:Naip1 UTSW 13 100,423,149 (GRCm38) missense probably benign 0.00
R1809:Naip1 UTSW 13 100,426,239 (GRCm38) missense probably benign
R2057:Naip1 UTSW 13 100,425,573 (GRCm38) missense probably damaging 0.96
R2182:Naip1 UTSW 13 100,413,680 (GRCm38) missense probably benign 0.01
R2395:Naip1 UTSW 13 100,423,106 (GRCm38) missense possibly damaging 0.83
R2518:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R3033:Naip1 UTSW 13 100,432,458 (GRCm38) missense probably benign 0.01
R3122:Naip1 UTSW 13 100,408,995 (GRCm38) missense probably damaging 1.00
R3439:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R4167:Naip1 UTSW 13 100,444,286 (GRCm38) missense probably benign 0.04
R4179:Naip1 UTSW 13 100,426,176 (GRCm38) missense probably damaging 0.99
R4212:Naip1 UTSW 13 100,426,875 (GRCm38) splice site probably null
R4639:Naip1 UTSW 13 100,444,283 (GRCm38) missense probably benign 0.31
R4674:Naip1 UTSW 13 100,444,174 (GRCm38) missense probably damaging 1.00
R4736:Naip1 UTSW 13 100,444,526 (GRCm38) missense possibly damaging 0.47
R4740:Naip1 UTSW 13 100,444,526 (GRCm38) missense possibly damaging 0.47
R4778:Naip1 UTSW 13 100,426,648 (GRCm38) missense probably damaging 1.00
R4806:Naip1 UTSW 13 100,425,621 (GRCm38) missense probably benign 0.00
R4855:Naip1 UTSW 13 100,423,220 (GRCm38) splice site probably null
R5740:Naip1 UTSW 13 100,432,501 (GRCm38) critical splice acceptor site probably null
R5797:Naip1 UTSW 13 100,444,526 (GRCm38) missense possibly damaging 0.47
R5806:Naip1 UTSW 13 100,444,735 (GRCm38) start codon destroyed probably null 1.00
R5895:Naip1 UTSW 13 100,423,128 (GRCm38) missense probably benign 0.00
R5896:Naip1 UTSW 13 100,423,128 (GRCm38) missense probably benign 0.00
R6023:Naip1 UTSW 13 100,426,186 (GRCm38) missense probably benign 0.00
R6109:Naip1 UTSW 13 100,427,182 (GRCm38) missense probably damaging 1.00
R6117:Naip1 UTSW 13 100,444,737 (GRCm38) start codon destroyed probably damaging 0.99
R6133:Naip1 UTSW 13 100,444,643 (GRCm38) missense probably benign 0.10
R6241:Naip1 UTSW 13 100,425,661 (GRCm38) missense probably damaging 0.99
R6335:Naip1 UTSW 13 100,426,552 (GRCm38) missense probably damaging 1.00
R6404:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R6475:Naip1 UTSW 13 100,409,088 (GRCm38) missense probably damaging 1.00
R6508:Naip1 UTSW 13 100,436,465 (GRCm38) missense probably damaging 1.00
R6580:Naip1 UTSW 13 100,444,649 (GRCm38) missense probably damaging 0.99
R6600:Naip1 UTSW 13 100,423,158 (GRCm38) missense probably benign 0.00
R6600:Naip1 UTSW 13 100,423,070 (GRCm38) missense probably benign 0.21
R6603:Naip1 UTSW 13 100,423,158 (GRCm38) missense probably benign 0.00
R6603:Naip1 UTSW 13 100,423,070 (GRCm38) missense probably benign 0.21
R6633:Naip1 UTSW 13 100,423,085 (GRCm38) missense probably benign 0.00
R6633:Naip1 UTSW 13 100,423,076 (GRCm38) missense probably benign
R6720:Naip1 UTSW 13 100,423,077 (GRCm38) missense probably benign 0.00
R6805:Naip1 UTSW 13 100,427,341 (GRCm38) missense probably benign 0.04
R7043:Naip1 UTSW 13 100,426,914 (GRCm38) missense probably damaging 1.00
R7615:Naip1 UTSW 13 100,425,776 (GRCm38) missense probably benign 0.00
R7797:Naip1 UTSW 13 100,444,478 (GRCm38) missense probably damaging 1.00
R7820:Naip1 UTSW 13 100,423,070 (GRCm38) missense probably benign 0.21
R7842:Naip1 UTSW 13 100,426,998 (GRCm38) missense probably damaging 1.00
R8117:Naip1 UTSW 13 100,427,001 (GRCm38) missense possibly damaging 0.67
R8132:Naip1 UTSW 13 100,437,375 (GRCm38) missense possibly damaging 0.84
R8177:Naip1 UTSW 13 100,427,403 (GRCm38) missense probably benign 0.00
R8203:Naip1 UTSW 13 100,425,820 (GRCm38) missense probably benign 0.02
R8283:Naip1 UTSW 13 100,427,187 (GRCm38) missense probably damaging 1.00
R8319:Naip1 UTSW 13 100,429,213 (GRCm38) missense probably benign 0.13
R8377:Naip1 UTSW 13 100,425,866 (GRCm38) missense possibly damaging 0.53
R8864:Naip1 UTSW 13 100,426,320 (GRCm38) missense possibly damaging 0.55
R8871:Naip1 UTSW 13 100,443,638 (GRCm38) missense probably damaging 1.00
R8987:Naip1 UTSW 13 100,426,926 (GRCm38) missense probably damaging 1.00
R9079:Naip1 UTSW 13 100,423,219 (GRCm38) missense probably benign 0.00
R9275:Naip1 UTSW 13 100,426,176 (GRCm38) missense probably damaging 0.99
R9354:Naip1 UTSW 13 100,427,486 (GRCm38) missense probably benign 0.31
R9524:Naip1 UTSW 13 100,426,593 (GRCm38) missense probably benign 0.06
R9617:Naip1 UTSW 13 100,433,313 (GRCm38) missense probably benign 0.01
R9776:Naip1 UTSW 13 100,423,076 (GRCm38) missense probably benign
R9802:Naip1 UTSW 13 100,426,205 (GRCm38) missense probably benign
RF007:Naip1 UTSW 13 100,426,134 (GRCm38) missense probably benign 0.03
X0066:Naip1 UTSW 13 100,437,322 (GRCm38) missense probably damaging 1.00
Y4335:Naip1 UTSW 13 100,425,522 (GRCm38) missense probably benign 0.00
Y4336:Naip1 UTSW 13 100,425,522 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCATTCTGCTACCCTAAAGAG -3'
(R):5'- ATCCCTAGGCTGGAAGTTGGAG -3'

Sequencing Primer
(F):5'- TCTGCTACCCTAAAGAGTGAAAGTG -3'
(R):5'- CTAGGCTGGAAGTTGGAGTGACC -3'
Posted On 2018-04-05