Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02093:Nbas'

279507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02093

Quality Score

Status

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13610963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 2218 (M2218K)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042953]

AlphaFold

E9Q411

Predicted Effect

probably benign
Transcript: ENSMUST00000042953
AA Change: M2218K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: M2218K

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223081

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,396 (GRCm39)	Y41F	probably benign	Het
Amigo1	T	C	3: 108,095,214 (GRCm39)	Y238H	probably benign	Het
Ankrd17	A	G	5: 90,390,822 (GRCm39)	S2283P	possibly damaging	Het
Apobec4	A	G	1: 152,632,119 (GRCm39)	H49R	possibly damaging	Het
Arhgap44	T	C	11: 64,965,360 (GRCm39)	K34R	probably damaging	Het
Arsg	A	G	11: 109,416,272 (GRCm39)	Y173C	possibly damaging	Het
Arv1	C	A	8: 125,457,617 (GRCm39)	L56M	probably damaging	Het
B3glct	A	T	5: 149,656,150 (GRCm39)	R194S	probably benign	Het
Ccdc39	T	A	3: 33,886,717 (GRCm39)	Y297F	probably benign	Het
Dnah8	A	G	17: 30,936,854 (GRCm39)	E1552G	probably damaging	Het
Dnajb9	T	C	12: 44,253,987 (GRCm39)	H140R	probably damaging	Het
Dock5	T	G	14: 68,076,992 (GRCm39)		probably benign	Het
Egr2	G	A	10: 67,375,854 (GRCm39)	G92D	probably damaging	Het
Evi2a	G	A	11: 79,418,490 (GRCm39)	S40L	probably benign	Het
Fshr	A	G	17: 89,309,317 (GRCm39)		probably null	Het
Glce	G	A	9: 61,977,821 (GRCm39)	T21I	probably damaging	Het
Gucy2d	C	A	7: 98,092,755 (GRCm39)	S44*	probably null	Het
Heatr5a	T	C	12: 51,962,858 (GRCm39)	E1014G	possibly damaging	Het
Hnrnpll	A	T	17: 80,351,933 (GRCm39)	H337Q	probably benign	Het
Jhy	G	T	9: 40,856,163 (GRCm39)		probably null	Het
Kat5	A	T	19: 5,653,903 (GRCm39)	M427K	probably benign	Het
Lama5	G	A	2: 179,830,380 (GRCm39)	P1876S	probably damaging	Het
Lamc3	C	A	2: 31,777,667 (GRCm39)	H104Q	probably damaging	Het
Lcn5	T	C	2: 25,548,462 (GRCm39)	Y84H	probably damaging	Het
Mageb18	T	A	X: 91,163,872 (GRCm39)	K123N	probably damaging	Het
Mfhas1	T	A	8: 36,056,498 (GRCm39)	N324K	probably damaging	Het
Nagk	T	C	6: 83,776,352 (GRCm39)	F189S	probably damaging	Het
Nuak2	C	A	1: 132,259,850 (GRCm39)	P543T	probably benign	Het
Or2ag17	C	T	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or5bh3	C	T	X: 49,098,705 (GRCm39)	M136I	possibly damaging	Het
Prl8a9	T	C	13: 27,743,436 (GRCm39)	Y123C	probably damaging	Het
Rapgef5	T	C	12: 117,682,867 (GRCm39)	F220S	probably damaging	Het
Rexo4	T	C	2: 26,852,530 (GRCm39)	D135G	probably benign	Het
Slc39a10	C	T	1: 46,874,369 (GRCm39)	R311Q	probably damaging	Het
Slfn10-ps	A	T	11: 82,923,016 (GRCm39)		noncoding transcript	Het
Tfrc	A	G	16: 32,449,012 (GRCm39)	E717G	probably benign	Het
Tg	T	A	15: 66,564,223 (GRCm39)	N1141K	possibly damaging	Het
Topors	T	C	4: 40,261,467 (GRCm39)	S606G	probably damaging	Het
Usp11	A	G	X: 20,585,591 (GRCm39)	D827G	probably benign	Het
Vmn2r1	A	T	3: 64,012,130 (GRCm39)	M664L	probably benign	Het
Vmn2r14	A	T	5: 109,368,275 (GRCm39)	M239K	possibly damaging	Het
Xiap	T	C	X: 41,188,704 (GRCm39)		probably benign	Het
Zfp2	G	A	11: 50,791,831 (GRCm39)	P71S	probably benign	Het
Zhx1	T	A	15: 57,916,264 (GRCm39)	T661S	probably benign	Het

Other mutations in Nbas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16