Incidental Mutation 'R2518:Naip1'
ID 476603
Institutional Source Beutler Lab
Gene Symbol Naip1
Ensembl Gene ENSMUSG00000021640
Gene Name NLR family, apoptosis inhibitory protein 1
Synonyms Naip, Birc1a, D13Lsd1
MMRRC Submission 040422-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2518 (G1)
Quality Score 106
Status Not validated
Chromosome 13
Chromosomal Location 100544272-100589372 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100559727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1092 (D1092E)
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: D1092E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: D1092E

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: D1092E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A G 8: 25,127,157 (GRCm39) C480R probably damaging Het
Aftph G T 11: 20,675,797 (GRCm39) T604K probably damaging Het
Bivm T C 1: 44,168,775 (GRCm39) V279A probably damaging Het
C2cd2 G A 16: 97,723,286 (GRCm39) T77I probably benign Het
Ccdc146 T C 5: 21,510,526 (GRCm39) H527R probably benign Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Cit A G 5: 116,125,105 (GRCm39) K1612E probably damaging Het
Cmtr1 T A 17: 29,900,954 (GRCm39) Y663* probably null Het
Col3a1 T A 1: 45,376,672 (GRCm39) probably benign Het
Copa A G 1: 171,947,468 (GRCm39) N1095D probably benign Het
Cpne1 G T 2: 155,915,891 (GRCm39) A433E probably damaging Het
Cyfip1 C T 7: 55,578,032 (GRCm39) L1181F probably damaging Het
Dnajc6 T A 4: 101,470,127 (GRCm39) I220N probably damaging Het
Duxbl1 G C 14: 25,988,172 (GRCm39) probably benign Het
Fam135b C T 15: 71,335,760 (GRCm39) R478H probably benign Het
Fam91a1 T A 15: 58,322,449 (GRCm39) S734T possibly damaging Het
Fut10 T G 8: 31,726,495 (GRCm39) S417A probably benign Het
Gm9945 C T 11: 53,371,163 (GRCm39) probably benign Het
Golga4 A G 9: 118,385,680 (GRCm39) E934G probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Hdac5 A G 11: 102,087,962 (GRCm39) V949A probably damaging Het
Hdgfl1 G T 13: 26,953,732 (GRCm39) L114I probably benign Het
Ifi27l2b T A 12: 103,422,083 (GRCm39) M94L unknown Het
Irs2 C A 8: 11,055,352 (GRCm39) A1027S probably benign Het
Itga2 A T 13: 115,017,578 (GRCm39) C111S probably damaging Het
Khdrbs1 T C 4: 129,614,540 (GRCm39) T338A probably benign Het
Klk1 T C 7: 43,870,161 (GRCm39) probably null Het
Kmt2b T C 7: 30,275,493 (GRCm39) N1822S probably benign Het
Lrig3 T C 10: 125,830,310 (GRCm39) I136T probably benign Het
Lyar T A 5: 38,385,276 (GRCm39) D105E probably benign Het
Mat1a T A 14: 40,844,469 (GRCm39) D366E probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Neb T A 2: 52,139,523 (GRCm39) K95* probably null Het
Nectin4 A G 1: 171,207,776 (GRCm39) D56G probably benign Het
Nup58 A T 14: 60,470,109 (GRCm39) F334Y probably damaging Het
Or14a256 A T 7: 86,265,395 (GRCm39) F153I probably benign Het
Or9i1 A G 19: 13,839,673 (GRCm39) N172S probably damaging Het
Pde8a C A 7: 80,967,170 (GRCm39) T437K probably benign Het
Ppp1r3a A T 6: 14,719,377 (GRCm39) N512K possibly damaging Het
Pramel12 A G 4: 143,144,473 (GRCm39) Q273R possibly damaging Het
Rad51ap2 A G 12: 11,507,068 (GRCm39) D330G probably damaging Het
Ren1 G A 1: 133,287,862 (GRCm39) A399T probably damaging Het
Rnft2 G T 5: 118,332,670 (GRCm39) probably benign Het
Septin14 A T 5: 129,776,099 (GRCm39) S27T probably benign Het
Shld1 T A 2: 132,592,447 (GRCm39) S165T probably damaging Het
Shox2 T C 3: 66,885,692 (GRCm39) K128E possibly damaging Het
Skint1 T C 4: 111,882,678 (GRCm39) W241R probably benign Het
Slc24a4 T A 12: 102,188,310 (GRCm39) H134Q probably benign Het
Slc25a36 A T 9: 96,961,124 (GRCm39) L165Q possibly damaging Het
Slc35f1 A G 10: 52,949,630 (GRCm39) I240V probably benign Het
Slc66a1 A G 4: 139,029,810 (GRCm39) F74L probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tarbp2 A G 15: 102,426,992 (GRCm39) E3G possibly damaging Het
Tas2r130 A T 6: 131,607,036 (GRCm39) I253K probably damaging Het
Timm44 A C 8: 4,316,588 (GRCm39) C319G probably null Het
Tjap1 A T 17: 46,571,021 (GRCm39) N165K probably damaging Het
Tmem63b A G 17: 45,977,080 (GRCm39) I429T probably benign Het
Trabd2b A T 4: 114,457,100 (GRCm39) D339V probably damaging Het
Tst T C 15: 78,290,033 (GRCm39) M1V probably null Het
Ube4a A T 9: 44,859,435 (GRCm39) N335K probably benign Het
Vps54 C T 11: 21,256,394 (GRCm39) T633M probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp953 A G 13: 67,496,003 (GRCm39) Y13H probably damaging Het
Other mutations in Naip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Naip1 APN 13 100,580,228 (GRCm39) critical splice acceptor site probably null
IGL01145:Naip1 APN 13 100,545,629 (GRCm39) missense probably benign 0.00
IGL01356:Naip1 APN 13 100,559,722 (GRCm39) missense probably damaging 0.99
IGL01414:Naip1 APN 13 100,545,681 (GRCm39) critical splice acceptor site probably null
IGL01505:Naip1 APN 13 100,562,441 (GRCm39) missense probably damaging 1.00
IGL01573:Naip1 APN 13 100,563,890 (GRCm39) missense probably benign 0.03
IGL01931:Naip1 APN 13 100,545,540 (GRCm39) nonsense probably null
IGL02043:Naip1 APN 13 100,563,304 (GRCm39) missense probably benign 0.03
IGL02097:Naip1 APN 13 100,562,096 (GRCm39) missense probably benign 0.03
IGL02331:Naip1 APN 13 100,563,304 (GRCm39) missense probably benign 0.03
IGL02627:Naip1 APN 13 100,562,156 (GRCm39) missense possibly damaging 0.68
IGL02675:Naip1 APN 13 100,545,626 (GRCm39) missense probably benign
IGL02801:Naip1 APN 13 100,580,876 (GRCm39) missense probably damaging 1.00
IGL02851:Naip1 APN 13 100,569,770 (GRCm39) missense probably damaging 1.00
IGL03038:Naip1 APN 13 100,573,841 (GRCm39) nonsense probably null
IGL03399:Naip1 APN 13 100,545,426 (GRCm39) missense probably damaging 1.00
FR4340:Naip1 UTSW 13 100,559,584 (GRCm39) missense probably benign
FR4342:Naip1 UTSW 13 100,561,979 (GRCm39) missense probably benign 0.00
R0051:Naip1 UTSW 13 100,547,509 (GRCm39) missense probably damaging 0.96
R0095:Naip1 UTSW 13 100,559,591 (GRCm39) missense probably benign 0.24
R0147:Naip1 UTSW 13 100,563,418 (GRCm39) missense possibly damaging 0.67
R0375:Naip1 UTSW 13 100,545,656 (GRCm39) missense probably benign 0.21
R0442:Naip1 UTSW 13 100,581,024 (GRCm39) missense probably benign 0.00
R0455:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
R0491:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
R0614:Naip1 UTSW 13 100,580,708 (GRCm39) missense probably benign 0.00
R0785:Naip1 UTSW 13 100,559,593 (GRCm39) missense probably benign 0.00
R0785:Naip1 UTSW 13 100,559,584 (GRCm39) missense probably benign
R0787:Naip1 UTSW 13 100,562,604 (GRCm39) missense probably benign 0.22
R1081:Naip1 UTSW 13 100,559,578 (GRCm39) missense probably benign 0.21
R1177:Naip1 UTSW 13 100,563,572 (GRCm39) missense possibly damaging 0.91
R1476:Naip1 UTSW 13 100,563,378 (GRCm39) missense probably benign 0.35
R1672:Naip1 UTSW 13 100,559,657 (GRCm39) missense probably benign 0.00
R1809:Naip1 UTSW 13 100,562,747 (GRCm39) missense probably benign
R2057:Naip1 UTSW 13 100,562,081 (GRCm39) missense probably damaging 0.96
R2182:Naip1 UTSW 13 100,550,188 (GRCm39) missense probably benign 0.01
R2395:Naip1 UTSW 13 100,559,614 (GRCm39) missense possibly damaging 0.83
R3033:Naip1 UTSW 13 100,568,966 (GRCm39) missense probably benign 0.01
R3122:Naip1 UTSW 13 100,545,503 (GRCm39) missense probably damaging 1.00
R3439:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
R4167:Naip1 UTSW 13 100,580,794 (GRCm39) missense probably benign 0.04
R4179:Naip1 UTSW 13 100,562,684 (GRCm39) missense probably damaging 0.99
R4212:Naip1 UTSW 13 100,563,383 (GRCm39) splice site probably null
R4639:Naip1 UTSW 13 100,580,791 (GRCm39) missense probably benign 0.31
R4674:Naip1 UTSW 13 100,580,682 (GRCm39) missense probably damaging 1.00
R4736:Naip1 UTSW 13 100,581,034 (GRCm39) missense possibly damaging 0.47
R4740:Naip1 UTSW 13 100,581,034 (GRCm39) missense possibly damaging 0.47
R4778:Naip1 UTSW 13 100,563,156 (GRCm39) missense probably damaging 1.00
R4806:Naip1 UTSW 13 100,562,129 (GRCm39) missense probably benign 0.00
R4855:Naip1 UTSW 13 100,559,728 (GRCm39) splice site probably null
R5740:Naip1 UTSW 13 100,569,009 (GRCm39) critical splice acceptor site probably null
R5797:Naip1 UTSW 13 100,581,034 (GRCm39) missense possibly damaging 0.47
R5806:Naip1 UTSW 13 100,581,243 (GRCm39) start codon destroyed probably null 1.00
R5895:Naip1 UTSW 13 100,559,636 (GRCm39) missense probably benign 0.00
R5896:Naip1 UTSW 13 100,559,636 (GRCm39) missense probably benign 0.00
R6023:Naip1 UTSW 13 100,562,694 (GRCm39) missense probably benign 0.00
R6109:Naip1 UTSW 13 100,563,690 (GRCm39) missense probably damaging 1.00
R6117:Naip1 UTSW 13 100,581,245 (GRCm39) start codon destroyed probably damaging 0.99
R6133:Naip1 UTSW 13 100,581,151 (GRCm39) missense probably benign 0.10
R6241:Naip1 UTSW 13 100,562,169 (GRCm39) missense probably damaging 0.99
R6335:Naip1 UTSW 13 100,563,060 (GRCm39) missense probably damaging 1.00
R6404:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
R6475:Naip1 UTSW 13 100,545,596 (GRCm39) missense probably damaging 1.00
R6508:Naip1 UTSW 13 100,572,973 (GRCm39) missense probably damaging 1.00
R6580:Naip1 UTSW 13 100,581,157 (GRCm39) missense probably damaging 0.99
R6600:Naip1 UTSW 13 100,559,666 (GRCm39) missense probably benign 0.00
R6600:Naip1 UTSW 13 100,559,578 (GRCm39) missense probably benign 0.21
R6603:Naip1 UTSW 13 100,559,666 (GRCm39) missense probably benign 0.00
R6603:Naip1 UTSW 13 100,559,578 (GRCm39) missense probably benign 0.21
R6633:Naip1 UTSW 13 100,559,593 (GRCm39) missense probably benign 0.00
R6633:Naip1 UTSW 13 100,559,584 (GRCm39) missense probably benign
R6720:Naip1 UTSW 13 100,559,585 (GRCm39) missense probably benign 0.00
R6805:Naip1 UTSW 13 100,563,849 (GRCm39) missense probably benign 0.04
R7043:Naip1 UTSW 13 100,563,422 (GRCm39) missense probably damaging 1.00
R7615:Naip1 UTSW 13 100,562,284 (GRCm39) missense probably benign 0.00
R7797:Naip1 UTSW 13 100,580,986 (GRCm39) missense probably damaging 1.00
R7820:Naip1 UTSW 13 100,559,578 (GRCm39) missense probably benign 0.21
R7842:Naip1 UTSW 13 100,563,506 (GRCm39) missense probably damaging 1.00
R8117:Naip1 UTSW 13 100,563,509 (GRCm39) missense possibly damaging 0.67
R8132:Naip1 UTSW 13 100,573,883 (GRCm39) missense possibly damaging 0.84
R8177:Naip1 UTSW 13 100,563,911 (GRCm39) missense probably benign 0.00
R8203:Naip1 UTSW 13 100,562,328 (GRCm39) missense probably benign 0.02
R8283:Naip1 UTSW 13 100,563,695 (GRCm39) missense probably damaging 1.00
R8319:Naip1 UTSW 13 100,565,721 (GRCm39) missense probably benign 0.13
R8377:Naip1 UTSW 13 100,562,374 (GRCm39) missense possibly damaging 0.53
R8864:Naip1 UTSW 13 100,562,828 (GRCm39) missense possibly damaging 0.55
R8871:Naip1 UTSW 13 100,580,146 (GRCm39) missense probably damaging 1.00
R8987:Naip1 UTSW 13 100,563,434 (GRCm39) missense probably damaging 1.00
R9079:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
R9275:Naip1 UTSW 13 100,562,684 (GRCm39) missense probably damaging 0.99
R9354:Naip1 UTSW 13 100,563,994 (GRCm39) missense probably benign 0.31
R9524:Naip1 UTSW 13 100,563,101 (GRCm39) missense probably benign 0.06
R9617:Naip1 UTSW 13 100,569,821 (GRCm39) missense probably benign 0.01
R9776:Naip1 UTSW 13 100,559,584 (GRCm39) missense probably benign
R9802:Naip1 UTSW 13 100,562,713 (GRCm39) missense probably benign
RF007:Naip1 UTSW 13 100,562,642 (GRCm39) missense probably benign 0.03
X0066:Naip1 UTSW 13 100,573,830 (GRCm39) missense probably damaging 1.00
Y4335:Naip1 UTSW 13 100,562,030 (GRCm39) missense probably benign 0.00
Y4336:Naip1 UTSW 13 100,562,030 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-05-11