Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Nbas'

276127

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

040901-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13329415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 120 (I120N)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042953
AA Change: I120N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: I120N

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

Meta Mutation Damage Score

0.1749

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,291,705 (GRCm39)	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,765,187 (GRCm39)	S623P	unknown	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Ccnq	T	C	11: 78,642,013 (GRCm39)	N159S	probably benign	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,256,742 (GRCm39)		probably null	Het
Dennd4c	G	A	4: 86,698,084 (GRCm39)	V191M	probably damaging	Het
Dthd1	T	A	5: 62,984,472 (GRCm39)	H392Q	probably benign	Het
Dthd1	T	C	5: 63,045,366 (GRCm39)	V710A	probably benign	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm4868	A	G	5: 125,925,609 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,232,260 (GRCm39)	E648G	probably damaging	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,686,957 (GRCm39)	E76G	possibly damaging	Het
Khk	A	G	5: 31,084,401 (GRCm39)	D82G	probably benign	Het
Kif17	A	G	4: 138,018,821 (GRCm39)	S533G	probably benign	Het
Kmt2a	A	G	9: 44,741,796 (GRCm39)		probably benign	Het
Kmt5c	T	C	7: 4,749,255 (GRCm39)	F104S	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Nfia	A	G	4: 97,951,259 (GRCm39)	H362R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nme5	A	G	18: 34,702,884 (GRCm39)	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Nufip2	T	C	11: 77,583,715 (GRCm39)	V543A	probably damaging	Het
Or1l4b	A	T	2: 37,036,835 (GRCm39)	I204F	possibly damaging	Het
Or2y10	A	G	11: 49,454,918 (GRCm39)	T57A	probably damaging	Het
Otog	T	C	7: 45,923,184 (GRCm39)	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,659,228 (GRCm39)	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,915,047 (GRCm39)		probably null	Het
Pla2g4a	T	A	1: 149,705,928 (GRCm39)	I711F	possibly damaging	Het
Ppig	G	A	2: 69,579,719 (GRCm39)	V418I	unknown	Het
Prg4	T	C	1: 150,327,751 (GRCm39)	Y234C	probably damaging	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,821,616 (GRCm39)	R74C	probably damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Sox11	C	A	12: 27,391,501 (GRCm39)	G303C	probably damaging	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het
Xylt1	T	G	7: 117,192,777 (GRCm39)	L361R	probably damaging	Het
Zfp512	A	G	5: 31,637,593 (GRCm39)	R505G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGACTCCATTTGAGACACTAAACC -3'
(R):5'- CCCTGCATTGATTCCAAAATAGAAG -3'

Sequencing Primer
(F):5'- TTGAGACACTAAACCACATCTGTG -3'
(R):5'- CTCTTTCAGAAAAAAAGTCTTGA -3'

Posted On

2015-04-06