Incidental Mutation 'R6508:Naip1'
ID 524027
Institutional Source Beutler Lab
Gene Symbol Naip1
Ensembl Gene ENSMUSG00000021640
Gene Name NLR family, apoptosis inhibitory protein 1
Synonyms Naip, Birc1a, D13Lsd1
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6508 (G1)
Quality Score 188.009
Status Not validated
Chromosome 13
Chromosomal Location 100544272-100589372 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100572973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 254 (F254L)
Ref Sequence ENSEMBL: ENSMUSP00000152120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022142] [ENSMUST00000221727] [ENSMUST00000221943] [ENSMUST00000222155]
AlphaFold Q9QWK5
Predicted Effect probably damaging
Transcript: ENSMUST00000022142
AA Change: F254L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: F254L

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 possibly damaging
Transcript: ENSMUST00000221727
AA Change: F254L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000221943
AA Change: F254L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222155
AA Change: F254L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dcc G T 18: 71,439,144 (GRCm39) P1246Q probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mllt1 A T 17: 57,234,054 (GRCm39) I44N probably damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pramel29 A T 4: 143,934,171 (GRCm39) L312* probably null Het
Pum2 T C 12: 8,798,861 (GRCm39) Y991H probably benign Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spata4 T C 8: 55,053,887 (GRCm39) S18P probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L probably benign 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
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
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'- TCCATAATAGAGAAATCACTTGTGAAG -3'
(R):5'- TCACTGATGTTTGGAACTGCATAAA -3'

Sequencing Primer
(F):5'- CAGAGGTCCTGAGTTCAGTTCC -3'
(R):5'- GTTTGGAACTGCATAAAAATCCTCC -3'
Posted On 2018-06-22