Incidental Mutation 'R0614:Naip1'
ID 54972
Institutional Source Beutler Lab
Gene Symbol Naip1
Ensembl Gene ENSMUSG00000021640
Gene Name NLR family, apoptosis inhibitory protein 1
Synonyms Birc1a, D13Lsd1, Naip
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0614 (G1)
Quality Score 185
Status Not validated
Chromosome 13
Chromosomal Location 100407764-100452869 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100444200 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 180 (V180L)
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: V180L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: V180L

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
AA Change: V180L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221943
AA Change: V180L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222155
AA Change: V180L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,192,663 (GRCm38) T137I probably benign Het
3110082I17Rik C T 5: 139,364,031 (GRCm38) V88I possibly damaging Het
4930453N24Rik T A 16: 64,766,614 (GRCm38) Q249L probably damaging Het
Akap2 C A 4: 57,856,720 (GRCm38) A926E probably benign Het
Ap1g2 C T 14: 55,099,773 (GRCm38) V702I probably benign Het
Armcx5 G A X: 135,746,815 (GRCm38) E547K probably damaging Het
Asah2 C A 19: 32,016,728 (GRCm38) V406L probably damaging Het
Atp8b1 T C 18: 64,533,587 (GRCm38) probably benign Het
Axl C A 7: 25,774,163 (GRCm38) R346L probably benign Het
Baz1a G A 12: 54,941,519 (GRCm38) R282* probably null Het
Card14 A G 11: 119,322,827 (GRCm38) N200S probably benign Het
Cdt1 A G 8: 122,568,137 (GRCm38) T28A probably benign Het
Cep250 C T 2: 155,970,097 (GRCm38) Q438* probably null Het
Dapk1 C A 13: 60,718,132 (GRCm38) P181Q probably damaging Het
Dnah17 C T 11: 118,070,568 (GRCm38) probably benign Het
Dph7 T C 2: 24,968,956 (GRCm38) probably null Het
Edc4 A T 8: 105,889,396 (GRCm38) D801V possibly damaging Het
Eif4g2 A G 7: 111,077,223 (GRCm38) probably null Het
Eml2 T C 7: 19,202,591 (GRCm38) L531P probably damaging Het
Ephb2 T C 4: 136,673,365 (GRCm38) Y533C probably benign Het
Fcho1 C T 8: 71,712,560 (GRCm38) A418T probably benign Het
Fsip2 A G 2: 82,977,533 (GRCm38) K1399E probably benign Het
Hcls1 A G 16: 36,962,625 (GRCm38) D446G probably damaging Het
Hif1a T A 12: 73,945,631 (GRCm38) N787K probably damaging Het
Ints14 T C 9: 64,964,433 (GRCm38) S18P probably benign Het
Kalrn A T 16: 33,993,670 (GRCm38) probably benign Het
Llgl2 T A 11: 115,850,267 (GRCm38) D502E probably damaging Het
Lrwd1 A G 5: 136,123,500 (GRCm38) V570A probably damaging Het
Mga C G 2: 119,964,466 (GRCm38) P2877R probably damaging Het
Mvd T C 8: 122,436,553 (GRCm38) I313V probably benign Het
Myo15b C A 11: 115,882,913 (GRCm38) P270T probably damaging Het
Ofd1 T C X: 166,435,540 (GRCm38) probably benign Het
Or1j19 T A 2: 36,786,693 (GRCm38) L56H probably damaging Het
Or4c125 T A 2: 89,339,985 (GRCm38) I106F probably damaging Het
Or4d11 A T 19: 12,036,565 (GRCm38) M59K possibly damaging Het
Otogl G A 10: 107,798,355 (GRCm38) P1420S probably benign Het
Pcnt C T 10: 76,420,316 (GRCm38) V697M probably damaging Het
Plekha7 A T 7: 116,154,645 (GRCm38) Y702* probably null Het
Plxnb3 A G X: 73,764,358 (GRCm38) probably benign Het
Ptgis A G 2: 167,206,882 (GRCm38) F405L probably damaging Het
Ptprk C T 10: 28,075,136 (GRCm38) P19L probably damaging Het
Ptprt A G 2: 161,812,120 (GRCm38) V530A possibly damaging Het
Rasgrp4 A T 7: 29,145,851 (GRCm38) Y299F probably damaging Het
Slc39a11 T A 11: 113,523,626 (GRCm38) probably null Het
Slc6a15 T A 10: 103,404,352 (GRCm38) L312* probably null Het
Slf1 T A 13: 77,049,114 (GRCm38) M794L probably benign Het
Sntg2 G A 12: 30,257,978 (GRCm38) T236I possibly damaging Het
Stau1 T C 2: 166,950,806 (GRCm38) Y413C probably damaging Het
Syne2 T G 12: 75,912,353 (GRCm38) probably null Het
Tas2r104 A T 6: 131,685,202 (GRCm38) N181K probably damaging Het
Tmem81 G A 1: 132,507,731 (GRCm38) V92I probably benign Het
Trap1 A G 16: 4,060,751 (GRCm38) probably benign Het
Trip12 T C 1: 84,757,761 (GRCm38) E905G probably damaging Het
Usp2 C T 9: 44,092,492 (GRCm38) R494* probably null Het
Vps13a G T 19: 16,652,694 (GRCm38) R2692S probably damaging Het
Zfhx3 C G 8: 108,948,967 (GRCm38) Y2216* probably null Het
Zfhx3 T C 8: 108,948,539 (GRCm38) S2074P probably benign Het
Zfp423 A G 8: 87,782,114 (GRCm38) F409S probably damaging Het
Zfp472 G A 17: 32,977,934 (GRCm38) E328K possibly damaging Het
Zfp619 T A 7: 39,537,675 (GRCm38) M1043K possibly damaging Het
Zfp940 T C 7: 29,846,246 (GRCm38) I79V probably benign 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
FR4342:Naip1 UTSW 13 100,425,471 (GRCm38) missense probably benign 0.00
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
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'- CAGCCCACTGCTGGTACATTTAAGG -3'
(R):5'- ACGTTCAGATCATGGACGCCACAG -3'

Sequencing Primer
(F):5'- CAGGCAAATACATGGCTGC -3'
(R):5'- TCTTTGGCAATAGCCTCAGGAAG -3'
Posted On 2013-07-11