Incidental Mutation 'R8956:Nbas'
ID 682036
Institutional Source Beutler Lab
Gene Symbol Nbas
Ensembl Gene ENSMUSG00000020576
Gene Name neuroblastoma amplified sequence
Synonyms 4933425L03Rik
MMRRC Submission 068792-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8956 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 13319134-13633812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13482923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 1400 (S1400L)
Ref Sequence ENSEMBL: ENSMUSP00000036082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042953]
AlphaFold E9Q411
Predicted Effect possibly damaging
Transcript: ENSMUST00000042953
AA Change: S1400L

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: S1400L

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: 98.7%
Validation Efficiency 98% (87/89)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan C T 7: 78,750,713 (GRCm39) T1828I probably benign Het
Acsf2 A G 11: 94,461,211 (GRCm39) S322P probably benign Het
Acss2 T A 2: 155,391,438 (GRCm39) I170N probably damaging Het
Adam22 G A 5: 8,142,343 (GRCm39) T814I probably damaging Het
Agrn G T 4: 156,250,995 (GRCm39) D1914E probably damaging Het
Akap6 T C 12: 53,187,127 (GRCm39) S1514P probably benign Het
Akap9 T C 5: 3,998,805 (GRCm39) L58P possibly damaging Het
Apof A G 10: 128,105,712 (GRCm39) I289V probably benign Het
Arhgap35 G A 7: 16,348,404 (GRCm39) probably benign Het
Atad3a A C 4: 155,838,054 (GRCm39) F239L probably damaging Het
Atf6 T C 1: 170,621,576 (GRCm39) T482A probably damaging Het
Atg9b T C 5: 24,591,850 (GRCm39) probably benign Het
Atp8b4 T A 2: 126,167,327 (GRCm39) probably null Het
B4galt5 T C 2: 167,143,260 (GRCm39) Y388C probably damaging Het
Bahd1 T C 2: 118,749,689 (GRCm39) L495P probably damaging Het
Bcl6 T C 16: 23,793,716 (GRCm39) E77G probably damaging Het
Bst1 C A 5: 43,982,716 (GRCm39) S187* probably null Het
Car4 A G 11: 84,855,377 (GRCm39) N170S probably null Het
Cdk14 A T 5: 5,277,182 (GRCm39) V131E probably damaging Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Cebpe T C 14: 54,949,121 (GRCm39) R99G probably damaging Het
Col9a1 G A 1: 24,276,300 (GRCm39) G736D probably damaging Het
Copa T A 1: 171,937,480 (GRCm39) V477D possibly damaging Het
Coq9 G A 8: 95,576,886 (GRCm39) G166D probably benign Het
Cttnbp2 A T 6: 18,434,165 (GRCm39) N564K possibly damaging Het
Dgkq T C 5: 108,798,095 (GRCm39) N721S probably benign Het
Dnhd1 A T 7: 105,341,852 (GRCm39) Y1217F probably damaging Het
Eef1akmt4 G T 16: 20,437,398 (GRCm39) E247* probably null Het
Elovl7 A T 13: 108,393,320 (GRCm39) I18F probably benign Het
Eml5 T C 12: 98,818,952 (GRCm39) K785E possibly damaging Het
Faap100 C A 11: 120,268,185 (GRCm39) C196F probably damaging Het
Fat2 G A 11: 55,173,729 (GRCm39) T2328M probably damaging Het
Gcnt2 T A 13: 41,041,204 (GRCm39) I121N probably benign Het
Gm12253 A G 11: 58,327,605 (GRCm39) K152E probably benign Het
Gm16440 T A 14: 17,574,527 (GRCm39) R167* probably null Het
Gm43302 T A 5: 105,425,602 (GRCm39) I276F possibly damaging Het
Gys2 A G 6: 142,374,267 (GRCm39) S593P probably damaging Het
H2-M10.4 T A 17: 36,772,245 (GRCm39) N168Y probably benign Het
Hpca C A 4: 129,012,287 (GRCm39) R83L probably damaging Het
Igkv8-28 A G 6: 70,121,109 (GRCm39) F13L probably benign Het
Il17ra A T 6: 120,458,465 (GRCm39) I539F probably damaging Het
Kdm4a A G 4: 118,019,013 (GRCm39) V401A possibly damaging Het
Krt86 A T 15: 101,375,157 (GRCm39) T351S probably benign Het
Lig4 A G 8: 10,021,378 (GRCm39) C801R probably benign Het
Lrrn4 G A 2: 132,714,011 (GRCm39) P312S probably damaging Het
Macf1 T A 4: 123,368,641 (GRCm39) H2040L probably benign Het
Madcam1 A G 10: 79,502,466 (GRCm39) K317E possibly damaging Het
Maip1 T C 1: 57,450,961 (GRCm39) I201T probably damaging Het
Map4k4 C A 1: 40,039,840 (GRCm39) D513E probably benign Het
Mideas T A 12: 84,209,102 (GRCm39) I667L probably benign Het
Mpped1 G A 15: 83,740,469 (GRCm39) G137R probably damaging Het
Mrgprd T G 7: 144,875,923 (GRCm39) F265V probably benign Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Mylk A G 16: 34,791,779 (GRCm39) T1484A probably benign Het
Nedd4 T A 9: 72,633,708 (GRCm39) S405T probably benign Het
Neil2 A G 14: 63,429,227 (GRCm39) V22A probably damaging Het
Nrip1 G C 16: 76,089,193 (GRCm39) A788G probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or10ab4 A G 7: 107,655,160 (GRCm39) T324A probably benign Het
Or10d4c C T 9: 39,558,496 (GRCm39) T158I probably damaging Het
Or2b7 T C 13: 21,740,169 (GRCm39) I8V probably benign Het
Or2bd2 G A 7: 6,442,020 (GRCm39) probably benign Het
Or2r2 T A 6: 42,463,830 (GRCm39) Q99L probably damaging Het
Or6c215 C T 10: 129,638,222 (GRCm39) M57I possibly damaging Het
Orc2 T C 1: 58,505,221 (GRCm39) N478S probably damaging Het
Oxct1 A G 15: 4,064,806 (GRCm39) E48G possibly damaging Het
Pcca A G 14: 122,975,324 (GRCm39) I28V probably benign Het
Pcdha8 T C 18: 37,126,241 (GRCm39) V241A probably benign Het
Pgap6 T A 17: 26,339,374 (GRCm39) S563T possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkd2 T A 5: 104,631,090 (GRCm39) W505R probably damaging Het
Plxnc1 C T 10: 94,746,448 (GRCm39) V430I probably benign Het
Prkd3 A G 17: 79,278,883 (GRCm39) M401T probably damaging Het
Rgmb A G 17: 16,027,748 (GRCm39) C324R probably benign Het
Rsph6a A T 7: 18,799,364 (GRCm39) probably benign Het
Sclt1 A T 3: 41,636,209 (GRCm39) M264K probably benign Het
Serhl T A 15: 82,985,899 (GRCm39) V30D possibly damaging Het
Sfrp1 T C 8: 23,902,159 (GRCm39) V120A probably damaging Het
Slc22a8 C T 19: 8,587,030 (GRCm39) Q408* probably null Het
Slc35b2 A G 17: 45,877,673 (GRCm39) T218A probably damaging Het
Slco4c1 A T 1: 96,765,242 (GRCm39) F403I probably damaging Het
Sorbs1 T A 19: 40,351,660 (GRCm39) H250L probably damaging Het
Sorcs3 T A 19: 48,737,810 (GRCm39) C742* probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tor1aip1 T A 1: 155,909,582 (GRCm39) probably benign Het
Trim9 T C 12: 70,393,665 (GRCm39) Q93R probably damaging Het
Tsnaxip1 A G 8: 106,570,813 (GRCm39) Y613C probably damaging Het
Ttc6 C T 12: 57,775,196 (GRCm39) Q1631* probably null Het
Ubr5 A G 15: 38,015,367 (GRCm39) L881P probably damaging Het
Upp2 C T 2: 58,457,454 (GRCm39) probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn2r116 A T 17: 23,605,736 (GRCm39) D216V probably damaging Het
Vps52 A G 17: 34,177,049 (GRCm39) Q96R probably benign 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
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 PCR Primer
(F):5'- CTGAAAGTGAGTGTTGACTTGATGC -3'
(R):5'- TTGTGACAACTGGTGAGTGCC -3'

Sequencing Primer
(F):5'- GGGGAACGATGAACTATTAGCATTTC -3'
(R):5'- CAACTGGTGAGTGCCTTGCTTAC -3'
Posted On 2021-08-31