Incidental Mutation 'R1476:Naip1'
ID 164093
Institutional Source Beutler Lab
Gene Symbol Naip1
Ensembl Gene ENSMUSG00000021640
Gene Name NLR family, apoptosis inhibitory protein 1
Synonyms Naip, Birc1a, D13Lsd1
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100544272-100589372 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100563378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 596 (S596G)
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: S596G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: S596G

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: S596G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null 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
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
R2518:Naip1 UTSW 13 100,559,727 (GRCm39) missense probably benign 0.00
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 PCR Primer
(F):5'- AAACCAGTCAGTACATACTGCTGCC -3'
(R):5'- TAGTTCCATCACACCAGACCAGGG -3'

Sequencing Primer
(F):5'- TACTGCTGCCACGAAGAG -3'
(R):5'- TGTCTGAGCAGCATCATCCAG -3'
Posted On 2014-03-28