Incidental Mutation 'R7912:Nbas'
ID 610617
Institutional Source Beutler Lab
Gene Symbol Nbas
Ensembl Gene ENSMUSG00000020576
Gene Name neuroblastoma amplified sequence
Synonyms 4933425L03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7912 (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 G at 13455458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1224 (E1224G)
Ref Sequence ENSEMBL: ENSMUSP00000036082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042953]
AlphaFold E9Q411
Predicted Effect possibly damaging
Transcript: ENSMUST00000042953
AA Change: E1224G

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: E1224G

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: 98.6%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,451 (GRCm39) T403A probably benign Het
Aco1 T C 4: 40,184,983 (GRCm39) L551S probably damaging Het
Acvr1 C T 2: 58,364,230 (GRCm39) V200I probably damaging Het
Adam26b T A 8: 43,973,245 (GRCm39) T586S probably benign Het
Ahctf1 T C 1: 179,580,656 (GRCm39) R1849G probably benign Het
Alox5 T A 6: 116,389,497 (GRCm39) D590V probably benign Het
Anapc5 A G 5: 122,931,498 (GRCm39) probably null Het
Anln T C 9: 22,269,965 (GRCm39) E743G possibly damaging Het
Anpep T C 7: 79,488,174 (GRCm39) K496R probably benign Het
Aox3 T A 1: 58,181,855 (GRCm39) S281T probably benign Het
Arhgef11 C A 3: 87,640,529 (GRCm39) P1258T probably damaging Het
Atp2c2 A T 8: 120,456,917 (GRCm39) D173V possibly damaging Het
Aurka T G 2: 172,210,949 (GRCm39) D22A probably benign Het
B3gat1 A T 9: 26,666,882 (GRCm39) D51V probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCAC 3: 95,795,483 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,466 (GRCm39) probably benign Het
BC028528 TTC TTCGGTGGTCACTGGCTC 3: 95,795,456 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT 3: 95,795,454 (GRCm39) probably benign Het
BC028528 CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA 3: 95,795,452 (GRCm39) probably benign Het
BC028528 CACTG CACTGATTCTGTGGTGACTG 3: 95,795,450 (GRCm39) probably benign Het
Bcas3 G A 11: 85,261,954 (GRCm39) G96S probably damaging Het
Bltp1 C T 3: 37,061,218 (GRCm39) A3309V probably damaging Het
C2cd4d T A 3: 94,270,860 (GRCm39) V42D probably damaging Het
Ccdc127 T C 13: 74,505,151 (GRCm39) L233P probably damaging Het
Cdc42bpa A G 1: 179,921,578 (GRCm39) K573E probably damaging Het
Cend1 T C 7: 141,007,544 (GRCm39) D92G probably damaging Het
Crb1 T C 1: 139,170,909 (GRCm39) D827G probably damaging Het
Cyld G T 8: 89,461,525 (GRCm39) C654F probably damaging Het
Fastkd5 C T 2: 130,458,557 (GRCm39) G11D probably damaging Het
Foxj3 A T 4: 119,477,252 (GRCm39) N354I possibly damaging Het
Gimap8 G T 6: 48,627,999 (GRCm39) C252F probably benign Het
Glra1 T C 11: 55,411,821 (GRCm39) Y329C probably damaging Het
Gm10330 G A 12: 23,829,980 (GRCm39) P67L probably benign Het
Gpm6a T C 8: 55,508,469 (GRCm39) I226T possibly damaging Het
Gstt2 A G 10: 75,668,418 (GRCm39) F121S probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,310,311 (GRCm39) F3302L probably benign Het
Hormad2 T C 11: 4,358,841 (GRCm39) T189A probably damaging Het
Hps5 A T 7: 46,418,826 (GRCm39) S815T probably benign Het
Hydin G T 8: 111,282,239 (GRCm39) R3113L possibly damaging Het
Inava A G 1: 136,155,279 (GRCm39) S109P probably benign Het
Inpp5f T A 7: 128,294,037 (GRCm39) C698S probably benign Het
Irs1 T G 1: 82,267,605 (GRCm39) M204L probably benign Het
Itfg1 T C 8: 86,490,909 (GRCm39) D340G probably damaging Het
Itm2c T A 1: 85,833,032 (GRCm39) I122N probably damaging Het
Lamp3 T A 16: 19,474,247 (GRCm39) T376S probably damaging Het
Lrba T A 3: 86,622,872 (GRCm39) I2418N probably damaging Het
Lrcol1 T A 5: 110,502,715 (GRCm39) V161D probably damaging Het
Lrp2 T A 2: 69,259,016 (GRCm39) Q4558L probably benign Het
Lrrfip2 A T 9: 111,034,836 (GRCm39) Q175L probably damaging Het
Mib1 T G 18: 10,778,187 (GRCm39) S572R probably damaging Het
Mis18bp1 A T 12: 65,199,532 (GRCm39) D456E possibly damaging Het
Mlh1 T A 9: 111,090,581 (GRCm39) T116S possibly damaging Het
Mpp4 T C 1: 59,160,521 (GRCm39) N594S probably damaging Het
Neb T C 2: 52,110,997 (GRCm39) D163G possibly damaging Het
Nectin4 T C 1: 171,207,941 (GRCm39) V111A possibly damaging Het
Nfatc2ip G A 7: 125,989,617 (GRCm39) R256* probably null Het
Nlgn2 G A 11: 69,716,760 (GRCm39) R594C probably damaging Het
Nufip1 A G 14: 76,352,442 (GRCm39) S198G possibly damaging Het
Or2n1 T C 17: 38,486,158 (GRCm39) F61S probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or8b49 T C 9: 38,506,446 (GRCm39) F310L probably benign Het
Or8s8 C T 15: 98,354,574 (GRCm39) H128Y probably benign Het
Pcdhga8 G A 18: 37,859,896 (GRCm39) M317I probably benign Het
Phactr1 A T 13: 42,863,239 (GRCm39) I55L probably benign Het
Prl3c1 G A 13: 27,383,367 (GRCm39) R31Q probably benign Het
Prss55 A T 14: 64,319,180 (GRCm39) F59Y possibly damaging Het
Ptprb T C 10: 116,158,392 (GRCm39) W488R probably damaging Het
Qrich2 GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC 11: 116,346,608 (GRCm39) probably benign Het
Ros1 G T 10: 52,044,791 (GRCm39) T172K probably damaging Het
Rtel1 C T 2: 180,997,869 (GRCm39) R1206W possibly damaging Het
Slf2 A T 19: 44,930,682 (GRCm39) K586N probably damaging Het
Smc2 T A 4: 52,450,854 (GRCm39) M224K probably benign Het
Spata31d1e A T 13: 59,890,329 (GRCm39) I497K probably damaging Het
Spinkl T C 18: 44,299,716 (GRCm39) Y83C probably damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
St13 T C 15: 81,283,719 (GRCm39) E26G possibly damaging Het
Teddm3 T A 16: 20,971,699 (GRCm39) Q290L probably benign Het
Tfec C A 6: 16,840,467 (GRCm39) probably null Het
Trank1 C A 9: 111,220,596 (GRCm39) D2444E probably benign Het
Ttc17 T A 2: 94,209,166 (GRCm39) N96I probably damaging Het
Ttn T C 2: 76,560,130 (GRCm39) T29424A possibly damaging Het
Tut7 C A 13: 59,946,819 (GRCm39) Q1003H probably damaging Het
Vmn1r68 G A 7: 10,261,237 (GRCm39) T287I probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r92 A T 17: 18,404,970 (GRCm39) T705S possibly damaging Het
Vps13d T C 4: 144,899,697 (GRCm39) D200G Het
Wdr48 G A 9: 119,733,405 (GRCm39) C84Y probably damaging Het
Zscan25 T A 5: 145,227,321 (GRCm39) H328Q 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
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 PCR Primer
(F):5'- ACCATTGGCACCTGTCACTG -3'
(R):5'- TAGGAAATTCTCTGAGAATCTGAGG -3'

Sequencing Primer
(F):5'- CCGGGTCTGACAGAGGTTG -3'
(R):5'- CAAAGTTACTCTTTCATTCCAAG -3'
Posted On 2019-12-20