Incidental Mutation 'R2091:Nbas'
ID 500564
Institutional Source Beutler Lab
Gene Symbol Nbas
Ensembl Gene ENSMUSG00000020576
Gene Name neuroblastoma amplified sequence
Synonyms 4933425L03Rik
MMRRC Submission 040096-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2091 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 13319134-13633812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13411046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 897 (D897N)
Ref Sequence ENSEMBL: ENSMUSP00000036082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042953]
AlphaFold E9Q411
Predicted Effect probably benign
Transcript: ENSMUST00000042953
AA Change: D897N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: D897N

DomainStartEndE-ValueType
Pfam:Nbas_N 89 370 4.7e-171 PFAM
low complexity region 463 475 N/A INTRINSIC
low complexity region 653 667 N/A INTRINSIC
Pfam:Sec39 725 1375 3.8e-34 PFAM
low complexity region 1392 1404 N/A INTRINSIC
low complexity region 1549 1566 N/A INTRINSIC
low complexity region 2226 2252 N/A INTRINSIC
low complexity region 2275 2285 N/A INTRINSIC
Meta Mutation Damage Score 0.1191 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
Allele List at MGI

All alleles(10) : Targeted, other(2) Gene trapped(8)

Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
AA986860 T C 1: 130,670,906 (GRCm39) L376P probably benign Het
Adamts10 T C 17: 33,770,166 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,493 (GRCm39) probably null Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Arfgap2 A G 2: 91,100,586 (GRCm39) K297R probably benign Het
Armh3 A T 19: 45,941,119 (GRCm39) L300Q probably damaging Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Atp2b4 C A 1: 133,642,968 (GRCm39) V1046F probably benign Het
Best1 A G 19: 9,969,443 (GRCm39) V205A probably benign Het
Bicdl1 A G 5: 115,862,638 (GRCm39) S206P probably damaging Het
Bltp1 T C 3: 37,008,119 (GRCm39) V1725A probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Cacna1h C T 17: 25,651,850 (GRCm39) C98Y possibly damaging Het
Calhm3 T A 19: 47,140,430 (GRCm39) D221V probably damaging Het
Ccdc93 T A 1: 121,411,071 (GRCm39) probably null Het
Cd248 A T 19: 5,120,074 (GRCm39) I641F possibly damaging Het
Chrnb3 C T 8: 27,884,262 (GRCm39) T333M probably damaging Het
Cyb5rl A G 4: 106,928,203 (GRCm39) H113R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddx59 T A 1: 136,344,447 (GRCm39) D39E probably benign Het
Defa5 A G 8: 21,787,513 (GRCm39) D20G probably damaging Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dlc1 A T 8: 37,404,763 (GRCm39) V342E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Dync1h1 A G 12: 110,616,022 (GRCm39) I3057V probably benign Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Fbp2 G T 13: 63,006,021 (GRCm39) L31I probably damaging Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gcfc2 A G 6: 81,920,460 (GRCm39) E415G probably damaging Het
Glp1r T C 17: 31,144,523 (GRCm39) L232P probably damaging Het
Gm10822 A G 2: 73,729,619 (GRCm39) noncoding transcript Het
Gm42669 G A 5: 107,655,776 (GRCm39) V1192M probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Gpt A G 15: 76,582,176 (GRCm39) E211G possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Kcne4 T C 1: 78,795,624 (GRCm39) S91P probably benign Het
Kif5b G A 18: 6,213,248 (GRCm39) Q715* probably null Het
Lamb1 T A 12: 31,337,428 (GRCm39) N386K probably damaging Het
Lcmt2 T C 2: 120,969,097 (GRCm39) N662S probably damaging Het
Lnx1 G T 5: 74,780,727 (GRCm39) H324N probably benign Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Mboat7 T C 7: 3,687,010 (GRCm39) probably benign Het
Mlip C T 9: 77,072,145 (GRCm39) V341I possibly damaging Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myo3a A T 2: 22,338,488 (GRCm39) H442L probably damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nlrp4a T C 7: 26,149,578 (GRCm39) L395P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nsun6 A G 2: 15,044,542 (GRCm39) probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Or4k51 A T 2: 111,584,731 (GRCm39) M46L probably benign Het
Or5aq7 T C 2: 86,938,606 (GRCm39) N42D probably damaging Het
Or5p70 A G 7: 107,995,068 (GRCm39) H247R probably damaging Het
Pate4 C A 9: 35,519,553 (GRCm39) A46S possibly damaging Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pdk4 A G 6: 5,494,857 (GRCm39) probably benign Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Plxdc2 A G 2: 16,718,494 (GRCm39) I379M probably damaging Het
Ppp1r35 A G 5: 137,778,156 (GRCm39) N217S possibly damaging Het
Prex1 G A 2: 166,411,285 (GRCm39) T1438I possibly damaging Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Sacs A T 14: 61,429,368 (GRCm39) I476L possibly damaging Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc10a4 G A 5: 73,174,482 (GRCm39) probably benign Het
Slc24a2 G T 4: 86,929,883 (GRCm39) P538T probably damaging Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Ssbp1 A G 6: 40,453,433 (GRCm39) Y73C probably null Het
St18 G A 1: 6,898,195 (GRCm39) V666M probably benign Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tcp11l1 T C 2: 104,514,484 (GRCm39) I428V possibly damaging Het
Th T A 7: 142,449,280 (GRCm39) D275V probably damaging Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trdv1 C A 14: 54,119,626 (GRCm39) Q96K probably benign Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Ttn C T 2: 76,565,355 (GRCm39) G26545R probably damaging Het
Ttn T C 2: 76,587,488 (GRCm39) D13208G probably damaging Het
Tubb3 A G 8: 124,148,417 (GRCm39) probably null Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Wrn T A 8: 33,757,853 (GRCm39) H812L probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly damaging Het
Zfp955a T A 17: 33,461,731 (GRCm39) K134* probably null Het
Other mutations in Nbas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Nbas APN 12 13,503,076 (GRCm39) missense probably benign 0.19
IGL00712:Nbas APN 12 13,412,626 (GRCm39) splice site probably benign
IGL00808:Nbas APN 12 13,616,121 (GRCm39) splice site probably benign
IGL00915:Nbas APN 12 13,424,753 (GRCm39) nonsense probably null
IGL00923:Nbas APN 12 13,386,285 (GRCm39) missense possibly damaging 0.46
IGL01152:Nbas APN 12 13,410,959 (GRCm39) missense probably damaging 1.00
IGL01633:Nbas APN 12 13,533,898 (GRCm39) missense probably damaging 1.00
IGL01672:Nbas APN 12 13,429,650 (GRCm39) missense possibly damaging 0.63
IGL01799:Nbas APN 12 13,374,401 (GRCm39) splice site probably benign
IGL01812:Nbas APN 12 13,503,504 (GRCm39) missense probably damaging 1.00
IGL01934:Nbas APN 12 13,339,880 (GRCm39) splice site probably benign
IGL02093:Nbas APN 12 13,610,963 (GRCm39) missense probably benign 0.00
IGL02115:Nbas APN 12 13,367,693 (GRCm39) splice site probably benign
IGL02175:Nbas APN 12 13,616,260 (GRCm39) critical splice donor site probably null
IGL02268:Nbas APN 12 13,455,398 (GRCm39) missense possibly damaging 0.94
IGL02483:Nbas APN 12 13,374,295 (GRCm39) missense probably damaging 1.00
IGL02539:Nbas APN 12 13,322,704 (GRCm39) splice site probably benign
IGL02557:Nbas APN 12 13,411,029 (GRCm39) missense probably damaging 1.00
IGL02815:Nbas APN 12 13,360,267 (GRCm39) missense probably damaging 1.00
IGL02951:Nbas APN 12 13,412,542 (GRCm39) missense probably benign
IGL03131:Nbas APN 12 13,329,417 (GRCm39) missense probably benign 0.03
IGL03214:Nbas APN 12 13,381,111 (GRCm39) splice site probably benign
IGL03308:Nbas APN 12 13,374,349 (GRCm39) missense possibly damaging 0.93
IGL03368:Nbas APN 12 13,378,452 (GRCm39) missense probably benign 0.08
IGL03372:Nbas APN 12 13,584,473 (GRCm39) missense probably damaging 1.00
IGL03391:Nbas APN 12 13,533,750 (GRCm39) missense probably benign 0.28
medvedev UTSW 12 13,584,578 (GRCm39) critical splice donor site probably null
oligarchs UTSW 12 13,570,751 (GRCm39) missense possibly damaging 0.75
putin UTSW 12 13,371,756 (GRCm39) missense probably damaging 1.00
1mM(1):Nbas UTSW 12 13,338,729 (GRCm39) missense probably damaging 1.00
R0057:Nbas UTSW 12 13,440,958 (GRCm39) missense probably benign 0.00
R0076:Nbas UTSW 12 13,374,337 (GRCm39) missense probably damaging 1.00
R0153:Nbas UTSW 12 13,323,877 (GRCm39) splice site probably benign
R0371:Nbas UTSW 12 13,381,096 (GRCm39) missense probably damaging 0.97
R0449:Nbas UTSW 12 13,569,109 (GRCm39) missense probably benign 0.18
R0791:Nbas UTSW 12 13,532,634 (GRCm39) missense probably benign 0.28
R0931:Nbas UTSW 12 13,381,115 (GRCm39) splice site probably benign
R1236:Nbas UTSW 12 13,319,242 (GRCm39) missense probably damaging 1.00
R1371:Nbas UTSW 12 13,532,379 (GRCm39) splice site probably benign
R1567:Nbas UTSW 12 13,335,279 (GRCm39) missense possibly damaging 0.70
R1587:Nbas UTSW 12 13,608,686 (GRCm39) missense probably benign
R1719:Nbas UTSW 12 13,610,978 (GRCm39) critical splice donor site probably null
R1747:Nbas UTSW 12 13,385,899 (GRCm39) missense probably benign 0.00
R1777:Nbas UTSW 12 13,563,563 (GRCm39) missense probably benign 0.16
R1848:Nbas UTSW 12 13,463,598 (GRCm39) missense probably damaging 0.97
R1856:Nbas UTSW 12 13,524,230 (GRCm39) missense possibly damaging 0.56
R1891:Nbas UTSW 12 13,440,973 (GRCm39) missense possibly damaging 0.92
R1911:Nbas UTSW 12 13,616,145 (GRCm39) missense probably benign
R1912:Nbas UTSW 12 13,616,145 (GRCm39) missense probably benign
R2006:Nbas UTSW 12 13,464,742 (GRCm39) splice site probably null
R2054:Nbas UTSW 12 13,524,207 (GRCm39) missense probably benign 0.36
R2065:Nbas UTSW 12 13,616,158 (GRCm39) missense probably damaging 1.00
R2089:Nbas UTSW 12 13,411,046 (GRCm39) missense probably benign 0.03
R2091:Nbas UTSW 12 13,411,046 (GRCm39) missense probably benign 0.03
R2156:Nbas UTSW 12 13,491,510 (GRCm39) missense probably damaging 1.00
R2164:Nbas UTSW 12 13,380,647 (GRCm39) missense possibly damaging 0.74
R2339:Nbas UTSW 12 13,412,593 (GRCm39) missense probably benign 0.12
R2398:Nbas UTSW 12 13,482,946 (GRCm39) missense probably damaging 0.99
R3806:Nbas UTSW 12 13,532,505 (GRCm39) missense probably damaging 1.00
R3855:Nbas UTSW 12 13,329,415 (GRCm39) missense possibly damaging 0.50
R4019:Nbas UTSW 12 13,532,520 (GRCm39) missense probably damaging 1.00
R4083:Nbas UTSW 12 13,524,192 (GRCm39) missense probably damaging 0.96
R4201:Nbas UTSW 12 13,424,827 (GRCm39) missense probably benign 0.00
R4231:Nbas UTSW 12 13,443,344 (GRCm39) missense probably damaging 0.98
R4552:Nbas UTSW 12 13,385,938 (GRCm39) critical splice donor site probably null
R4560:Nbas UTSW 12 13,633,528 (GRCm39) missense probably benign 0.00
R4728:Nbas UTSW 12 13,338,740 (GRCm39) missense probably damaging 0.98
R4752:Nbas UTSW 12 13,532,538 (GRCm39) missense possibly damaging 0.92
R4832:Nbas UTSW 12 13,533,740 (GRCm39) missense probably benign 0.00
R4874:Nbas UTSW 12 13,371,756 (GRCm39) missense probably damaging 1.00
R4988:Nbas UTSW 12 13,458,266 (GRCm39) missense probably benign 0.45
R5020:Nbas UTSW 12 13,424,713 (GRCm39) missense probably damaging 0.99
R5079:Nbas UTSW 12 13,424,712 (GRCm39) missense probably damaging 1.00
R5129:Nbas UTSW 12 13,440,961 (GRCm39) missense probably damaging 1.00
R5239:Nbas UTSW 12 13,491,519 (GRCm39) missense probably benign 0.31
R5299:Nbas UTSW 12 13,491,926 (GRCm39) nonsense probably null
R5351:Nbas UTSW 12 13,610,850 (GRCm39) missense probably damaging 1.00
R5389:Nbas UTSW 12 13,584,578 (GRCm39) critical splice donor site probably null
R5436:Nbas UTSW 12 13,424,812 (GRCm39) missense probably damaging 1.00
R5654:Nbas UTSW 12 13,633,476 (GRCm39) missense probably damaging 1.00
R5690:Nbas UTSW 12 13,386,285 (GRCm39) missense probably damaging 1.00
R5842:Nbas UTSW 12 13,319,267 (GRCm39) critical splice donor site probably null
R5959:Nbas UTSW 12 13,338,802 (GRCm39) missense probably damaging 0.99
R5982:Nbas UTSW 12 13,443,431 (GRCm39) missense probably benign 0.00
R6238:Nbas UTSW 12 13,532,596 (GRCm39) missense probably benign
R6270:Nbas UTSW 12 13,374,294 (GRCm39) missense probably damaging 1.00
R6363:Nbas UTSW 12 13,532,577 (GRCm39) missense probably benign
R6424:Nbas UTSW 12 13,465,734 (GRCm39) critical splice donor site probably null
R6458:Nbas UTSW 12 13,338,750 (GRCm39) missense probably damaging 1.00
R6526:Nbas UTSW 12 13,455,426 (GRCm39) missense probably damaging 1.00
R6654:Nbas UTSW 12 13,533,875 (GRCm39) nonsense probably null
R7085:Nbas UTSW 12 13,335,259 (GRCm39) missense probably damaging 1.00
R7179:Nbas UTSW 12 13,455,398 (GRCm39) missense possibly damaging 0.94
R7197:Nbas UTSW 12 13,570,751 (GRCm39) missense possibly damaging 0.75
R7378:Nbas UTSW 12 13,324,220 (GRCm39) missense probably damaging 1.00
R7393:Nbas UTSW 12 13,443,493 (GRCm39) missense probably damaging 1.00
R7425:Nbas UTSW 12 13,519,881 (GRCm39) missense probably damaging 1.00
R7446:Nbas UTSW 12 13,443,499 (GRCm39) missense probably benign 0.02
R7481:Nbas UTSW 12 13,406,960 (GRCm39) missense probably damaging 0.97
R7535:Nbas UTSW 12 13,329,390 (GRCm39) missense probably damaging 0.97
R7626:Nbas UTSW 12 13,608,661 (GRCm39) missense probably benign 0.00
R7678:Nbas UTSW 12 13,465,662 (GRCm39) missense probably damaging 0.97
R7912:Nbas UTSW 12 13,455,458 (GRCm39) missense possibly damaging 0.91
R7964:Nbas UTSW 12 13,406,896 (GRCm39) missense probably damaging 0.99
R8193:Nbas UTSW 12 13,483,010 (GRCm39) missense probably damaging 1.00
R8325:Nbas UTSW 12 13,338,796 (GRCm39) missense probably damaging 1.00
R8405:Nbas UTSW 12 13,329,394 (GRCm39) missense probably damaging 1.00
R8437:Nbas UTSW 12 13,616,251 (GRCm39) missense possibly damaging 0.46
R8559:Nbas UTSW 12 13,402,809 (GRCm39) missense probably benign 0.00
R8684:Nbas UTSW 12 13,386,368 (GRCm39) missense probably damaging 1.00
R8826:Nbas UTSW 12 13,402,875 (GRCm39) splice site probably benign
R8921:Nbas UTSW 12 13,463,590 (GRCm39) missense probably benign
R8956:Nbas UTSW 12 13,482,923 (GRCm39) missense possibly damaging 0.51
R9083:Nbas UTSW 12 13,385,856 (GRCm39) missense possibly damaging 0.56
R9172:Nbas UTSW 12 13,424,751 (GRCm39) missense possibly damaging 0.65
R9430:Nbas UTSW 12 13,371,654 (GRCm39) missense probably benign 0.35
R9627:Nbas UTSW 12 13,350,203 (GRCm39) missense possibly damaging 0.76
R9649:Nbas UTSW 12 13,633,417 (GRCm39) missense probably damaging 1.00
RF013:Nbas UTSW 12 13,329,409 (GRCm39) missense possibly damaging 0.54
T0722:Nbas UTSW 12 13,402,809 (GRCm39) missense probably benign 0.00
Z1176:Nbas UTSW 12 13,533,877 (GRCm39) missense probably benign 0.06
Predicted Primers
Posted On 2017-12-01