Incidental Mutation 'R9649:Nbas'
ID 726984
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 # R9649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 13319134-13633812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13633417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 2274 (E2274V)
Ref Sequence ENSEMBL: ENSMUSP00000036082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042953]
AlphaFold E9Q411
Predicted Effect probably damaging
Transcript: ENSMUST00000042953
AA Change: E2274V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: E2274V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik A T 2: 173,561,706 (GRCm39) H5L unknown Het
Aatk A G 11: 119,901,733 (GRCm39) S888P probably damaging Het
Ahnak A T 19: 8,985,786 (GRCm39) K2357* probably null Het
Arl9 T A 5: 77,155,139 (GRCm39) L90Q probably damaging Het
Atosa A G 9: 74,924,349 (GRCm39) D864G possibly damaging Het
Atxn2 T C 5: 121,949,055 (GRCm39) V1144A probably damaging Het
Batf3 C T 1: 190,830,623 (GRCm39) probably benign Het
Bltp3b C A 10: 89,626,593 (GRCm39) T429K probably benign Het
Brpf3 G A 17: 29,037,597 (GRCm39) E822K probably benign Het
Cabin1 T A 10: 75,575,239 (GRCm39) Q602L probably damaging Het
Cadps T C 14: 12,597,418 (GRCm38) E424G probably damaging Het
Camta1 A G 4: 151,216,004 (GRCm39) L972P possibly damaging Het
Ccdc159 A G 9: 21,840,672 (GRCm39) N80D possibly damaging Het
Cdh1 A C 8: 107,388,604 (GRCm39) E553D possibly damaging Het
Cdk14 T A 5: 5,423,477 (GRCm39) E35V probably benign Het
Cfap70 A G 14: 20,450,546 (GRCm39) L995P probably damaging Het
Col18a1 T A 10: 76,916,673 (GRCm39) E334V unknown Het
Colec12 T A 18: 9,877,000 (GRCm39) I741K unknown Het
Crot A G 5: 9,024,170 (GRCm39) V342A probably benign Het
Ctnnal1 A G 4: 56,865,036 (GRCm39) S27P possibly damaging Het
Cyp2j9 A G 4: 96,460,193 (GRCm39) S437P probably damaging Het
Dennd4c A T 4: 86,743,160 (GRCm39) T1001S probably benign Het
Dffa G A 4: 149,202,276 (GRCm39) V227I probably benign Het
Dnaaf5 T A 5: 139,159,909 (GRCm39) H602Q probably benign Het
Efcab7 G T 4: 99,761,902 (GRCm39) K397N probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Fadd G A 7: 144,134,384 (GRCm39) T167I probably benign Het
Fam184b T C 5: 45,796,484 (GRCm39) D33G probably damaging Het
Fam237b C T 5: 5,625,549 (GRCm39) Q82* probably null Het
Fam83h G A 15: 75,877,976 (GRCm39) R141W probably damaging Het
Fanci G A 7: 79,076,954 (GRCm39) R564Q probably damaging Het
Fat3 A T 9: 15,908,054 (GRCm39) D2649E possibly damaging Het
Fcrl1 A G 3: 87,291,918 (GRCm39) T46A possibly damaging Het
Fig4 C T 10: 41,143,763 (GRCm39) G232D probably benign Het
Frem3 A T 8: 81,341,145 (GRCm39) H1146L probably damaging Het
Fyttd1 T A 16: 32,715,472 (GRCm39) F133L probably benign Het
Gata2 A G 6: 88,179,505 (GRCm39) N326D probably damaging Het
Gm7298 A T 6: 121,764,491 (GRCm39) T1457S probably damaging Het
Hdac1-ps A T 17: 78,799,075 (GRCm39) Y22F probably benign Het
Heatr5b C T 17: 79,141,524 (GRCm39) probably null Het
Hfm1 T A 5: 107,066,329 (GRCm39) D33V possibly damaging Het
Hmcn2 G A 2: 31,292,450 (GRCm39) A2447T possibly damaging Het
Hs3st3b1 A G 11: 63,812,331 (GRCm39) F128S probably benign Het
Hs3st6 G T 17: 24,972,226 (GRCm39) R56L possibly damaging Het
Hsd17b3 C T 13: 64,212,171 (GRCm39) M168I probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Itgb4 A T 11: 115,885,171 (GRCm39) I1018F possibly damaging Het
Itih3 T C 14: 30,637,605 (GRCm39) D518G possibly damaging Het
Kcnma1 C T 14: 23,501,666 (GRCm39) probably null Het
Klhl11 A T 11: 100,363,506 (GRCm39) S17T probably benign Het
Lilra6 T C 7: 3,917,521 (GRCm39) E158G possibly damaging Het
Loxl1 A G 9: 58,220,037 (GRCm39) W45R probably damaging Het
Lratd1 T C 12: 14,200,190 (GRCm39) N179S probably benign Het
Lrfn1 G T 7: 28,166,255 (GRCm39) V550F probably damaging Het
Lrp1 T C 10: 127,409,368 (GRCm39) K1584E probably benign Het
Lrp4 C G 2: 91,338,914 (GRCm39) P1782A possibly damaging Het
Map3k1 A G 13: 111,885,478 (GRCm39) S1480P probably damaging Het
Mark4 G T 7: 19,160,015 (GRCm39) N748K probably benign Het
Mrpl38 G A 11: 116,025,900 (GRCm39) T142M probably damaging Het
Mrpl41 T C 2: 24,864,481 (GRCm39) T64A probably benign Het
Mrps2 G A 2: 28,359,764 (GRCm39) R207K possibly damaging Het
Myo5a A T 9: 75,099,726 (GRCm39) E96D Het
Or4x13 T C 2: 90,231,338 (GRCm39) F111S probably damaging Het
Or51a8 T C 7: 102,549,652 (GRCm39) I26T probably benign Het
Or51ac3 T C 7: 103,213,850 (GRCm39) D212G probably damaging Het
Or5m10b T C 2: 85,699,278 (GRCm39) L114P possibly damaging Het
Or5m10b T A 2: 85,699,819 (GRCm39) N294K probably damaging Het
Or6c35 T A 10: 129,169,368 (GRCm39) I206N possibly damaging Het
Pcdhga12 T A 18: 37,900,288 (GRCm39) D373E probably damaging Het
Pgd A C 4: 149,235,596 (GRCm39) F395V probably damaging Het
Pi16 A G 17: 29,538,363 (GRCm39) M59V possibly damaging Het
Pik3r5 A T 11: 68,381,720 (GRCm39) T255S probably benign Het
Plch2 A T 4: 155,068,516 (GRCm39) V1370E probably benign Het
Plec A G 15: 76,067,153 (GRCm39) I1309T unknown Het
Ppp2r3d A T 9: 124,440,831 (GRCm38) S22R Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Ptk2b C A 14: 66,413,154 (GRCm39) E342* probably null Het
Ptpn23 T C 9: 110,215,226 (GRCm39) probably null Het
Rfx8 A C 1: 39,722,850 (GRCm39) S256A probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rnf213 A G 11: 119,370,457 (GRCm39) Y4753C Het
S100a10 A C 3: 93,471,590 (GRCm39) D58A possibly damaging Het
Serpina12 T C 12: 104,004,317 (GRCm39) K105R probably benign Het
Slc20a2 G A 8: 23,028,900 (GRCm39) G124S probably damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stard9 C A 2: 120,526,635 (GRCm39) T964N probably benign Het
Stxbp5 T A 10: 9,774,938 (GRCm39) I72F probably damaging Het
Sumf2 T A 5: 129,891,482 (GRCm39) M282K possibly damaging Het
Tle7 T C 8: 110,837,580 (GRCm39) F375L probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem185b G T 1: 119,454,613 (GRCm39) V125L probably benign Het
Tmtc1 A G 6: 148,144,714 (GRCm39) M887T probably damaging Het
Tnfaip8 C T 18: 50,223,512 (GRCm39) Q83* probably null Het
Tnks A G 8: 35,306,089 (GRCm39) V1162A probably damaging Het
Tomm70a T A 16: 56,961,072 (GRCm39) Y342N possibly damaging Het
Tpo T A 12: 30,125,875 (GRCm39) D828V probably damaging Het
Ugt8a A T 3: 125,708,338 (GRCm39) N257K probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vim T A 2: 13,579,703 (GRCm39) M154K probably damaging Het
Virma G T 4: 11,486,045 (GRCm39) M1I probably null Het
Zfp715 A T 7: 42,950,653 (GRCm39) M100K probably benign Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging 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
R9627:Nbas UTSW 12 13,350,203 (GRCm39) missense possibly damaging 0.76
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'- GCTACATTGTCTCCTTAGGCTG -3'
(R):5'- AGCCAGCTTCGACTTCATGG -3'

Sequencing Primer
(F):5'- AAGAAGCCATGTCTGCTGTC -3'
(R):5'- TTCGACTTCATGGCCGGC -3'
Posted On 2022-10-06