Incidental Mutation 'R9627:Nbas'
ID 725232
Institutional Source Beutler Lab
Gene Symbol Nbas
Ensembl Gene ENSMUSG00000020576
Gene Name neuroblastoma amplified sequence
Synonyms 4933425L03Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 13319134-13633812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13350203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 285 (V285F)
Ref Sequence ENSEMBL: ENSMUSP00000036082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042953]
AlphaFold E9Q411
Predicted Effect possibly damaging
Transcript: ENSMUST00000042953
AA Change: V285F

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: V285F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,487,834 (GRCm39) probably benign Het
Abca14 T C 7: 119,854,530 (GRCm39) V898A probably benign Het
Adamtsl1 A T 4: 86,306,762 (GRCm39) D1400V possibly damaging Het
Akap6 T A 12: 53,151,413 (GRCm39) M1159K Het
Atg13 C A 2: 91,509,098 (GRCm39) G446* probably null Het
Atp6v1g2 G T 17: 35,454,956 (GRCm39) probably null Het
Bmp2k C T 5: 97,201,028 (GRCm39) A316V possibly damaging Het
Ccdc34 AAGA AA 2: 109,871,010 (GRCm39) probably null Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Cln6 T A 9: 62,754,303 (GRCm39) I115N probably damaging Het
Cma1 T C 14: 56,181,289 (GRCm39) T39A probably benign Het
Cpsf1 A T 15: 76,484,088 (GRCm39) M744K probably damaging Het
Csf1r A G 18: 61,260,972 (GRCm39) Y721C probably damaging Het
Dcaf12 A G 4: 41,293,976 (GRCm39) L387P probably benign Het
Ephb1 T C 9: 101,918,468 (GRCm39) E347G possibly damaging Het
Fig4 T A 10: 41,108,178 (GRCm39) H674L probably benign Het
Foxa3 T A 7: 18,748,458 (GRCm39) K223* probably null Het
Gimap7 T C 6: 48,700,600 (GRCm39) V62A probably damaging Het
Glrx3 T A 7: 137,046,755 (GRCm39) V49E probably benign Het
Greb1 T C 12: 16,756,167 (GRCm39) Y823C probably damaging Het
H3c7 G T 13: 23,728,793 (GRCm39) V47L possibly damaging Het
Hapln4 C A 8: 70,539,520 (GRCm39) R184S possibly damaging Het
Hmcn1 C T 1: 150,506,054 (GRCm39) C3824Y probably damaging Het
Hrnr T C 3: 93,233,235 (GRCm39) S1158P unknown Het
Itln1 A G 1: 171,360,985 (GRCm39) S36P probably benign Het
Kcnh5 A C 12: 75,160,990 (GRCm39) I306S probably damaging Het
Kctd19 T A 8: 106,113,997 (GRCm39) M559L probably benign Het
Kif2a A G 13: 107,158,558 (GRCm39) I9T possibly damaging Het
Klra5 G A 6: 129,883,701 (GRCm39) T142I probably benign Het
Ldlrad3 A G 2: 101,785,423 (GRCm39) V184A probably damaging Het
Lrrc27 T C 7: 138,808,582 (GRCm39) probably benign Het
Mark1 A G 1: 184,646,817 (GRCm39) V340A probably benign Het
Mrps31 T C 8: 22,901,558 (GRCm39) V26A probably benign Het
Mtrr G A 13: 68,725,756 (GRCm39) L118F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nfrkb T C 9: 31,321,189 (GRCm39) L675P possibly damaging Het
Or10v9 T A 19: 11,832,910 (GRCm39) I136F possibly damaging Het
Or1q1 T A 2: 36,887,665 (GRCm39) V281E Het
Or5k15 T A 16: 58,709,771 (GRCm39) I271L probably benign Het
Phkg1 C T 5: 129,893,376 (GRCm39) W358* probably null Het
Plekhj1 A C 10: 80,633,494 (GRCm39) I51S possibly damaging Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prkg2 T C 5: 99,079,869 (GRCm39) *763W probably null Het
Rhobtb2 A G 14: 70,034,349 (GRCm39) F292S probably damaging Het
Rlf A T 4: 121,007,002 (GRCm39) C769* probably null Het
Rmi1 C A 13: 58,557,366 (GRCm39) D538E possibly damaging Het
Scn4a C T 11: 106,212,839 (GRCm39) V1389I probably benign Het
Serpinc1 A T 1: 160,821,101 (GRCm39) K183* probably null Het
Setd4 A T 16: 93,380,562 (GRCm39) M399K possibly damaging Het
Setx T C 2: 29,034,661 (GRCm39) M382T probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Slfn2 A T 11: 82,960,367 (GRCm39) K115N Het
Snrk A T 9: 121,966,427 (GRCm39) K117* probably null Het
Spata31 A G 13: 65,065,409 (GRCm39) Y38C possibly damaging Het
Stab2 T C 10: 86,793,704 (GRCm39) T464A probably damaging Het
Tagap1 C T 17: 7,224,327 (GRCm39) G123D probably benign Het
Tas2r136 T C 6: 132,754,948 (GRCm39) K60E possibly damaging Het
Tasor T C 14: 27,194,123 (GRCm39) S1108P probably benign Het
Tmem200b A C 4: 131,649,437 (GRCm39) Y119S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Wwp2 T G 8: 108,278,959 (GRCm39) L578W probably damaging Het
Zfp53 T A 17: 21,728,745 (GRCm39) C259* 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
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
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 PCR Primer
(F):5'- TGGGTACAACAACAGCAATTTTAGC -3'
(R):5'- GGAAGCCAAGTTAAGCTCAATATAC -3'

Sequencing Primer
(F):5'- GCTTTCTATGTAAAGGTAGCTGTTTC -3'
(R):5'- GCCAAGTTAAGCTCAATATACTTGAC -3'
Posted On 2022-09-12