Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Nbas'

194067

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13385899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 721 (S721N)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably benign
Transcript: ENSMUST00000042953
AA Change: S721N

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

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: S721N

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,608,814 (GRCm39)	S117N	probably damaging	Het
Acat3	A	G	17: 13,143,695 (GRCm39)	I349T	possibly damaging	Het
Add3	A	G	19: 53,230,981 (GRCm39)	N552S	probably benign	Het
Ak3	G	T	19: 29,000,261 (GRCm39)	P217T	possibly damaging	Het
Aox1	A	T	1: 58,378,751 (GRCm39)	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,216,982 (GRCm39)	M118T	probably damaging	Het
Arhgap28	C	A	17: 68,208,304 (GRCm39)	A105S	probably benign	Het
Arhgef28	T	C	13: 98,073,332 (GRCm39)	E1368G	probably damaging	Het
Armc7	G	A	11: 115,379,583 (GRCm39)	V94I	probably benign	Het
Asxl1	C	A	2: 153,235,374 (GRCm39)	T223N	possibly damaging	Het
Btbd8	T	C	5: 107,599,865 (GRCm39)	S119P	probably damaging	Het
Cltc	T	C	11: 86,597,907 (GRCm39)	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,469,118 (GRCm39)	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,964,529 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,041,568 (GRCm39)	I371V	probably benign	Het
Dennd4c	T	C	4: 86,725,675 (GRCm39)	F710L	probably damaging	Het
Diaph3	T	C	14: 87,310,773 (GRCm39)	D126G	probably damaging	Het
Dnm3	G	A	1: 162,141,153 (GRCm39)	R369C	probably damaging	Het
Dst	A	C	1: 34,199,790 (GRCm39)	Q86P	probably damaging	Het
Ern2	C	A	7: 121,773,042 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,773,043 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,628,217 (GRCm39)		probably null	Het
Glg1	G	A	8: 111,924,305 (GRCm39)	R228C	probably damaging	Het
Gm4736	G	A	6: 132,092,633 (GRCm39)		noncoding transcript	Het
Hmcn2	G	C	2: 31,347,997 (GRCm39)	G4881A	probably benign	Het
Htr2a	T	G	14: 74,943,593 (GRCm39)	F391C	probably damaging	Het
Htr5b	A	T	1: 121,455,647 (GRCm39)	V91E	probably damaging	Het
Ifi44	T	A	3: 151,454,922 (GRCm39)	H101L	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,765,778 (GRCm39)	H608L	probably benign	Het
Lrp4	T	C	2: 91,322,966 (GRCm39)	V1150A	probably damaging	Het
Lyst	T	C	13: 13,932,007 (GRCm39)	F3545S	probably benign	Het
Magi3	T	C	3: 103,941,489 (GRCm39)	D822G	possibly damaging	Het
Nog	T	A	11: 89,192,408 (GRCm39)	M147L	probably benign	Het
Npr1	C	T	3: 90,365,976 (GRCm39)	C605Y	possibly damaging	Het
Or7e173	A	C	9: 19,938,613 (GRCm39)	V207G	probably benign	Het
Or8k21	G	A	2: 86,145,211 (GRCm39)	L140F	probably benign	Het
Pgs1	A	G	11: 117,892,457 (GRCm39)	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,071,655 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,627 (GRCm39)	V371I	possibly damaging	Het
Prom1	C	T	5: 44,164,373 (GRCm39)	V703I	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,359,686 (GRCm39)	I390F	probably damaging	Het
Scrt2	C	T	2: 151,935,638 (GRCm39)	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,302,887 (GRCm39)	E661K	possibly damaging	Het
Skic2	G	T	17: 35,066,782 (GRCm39)	P162H	probably benign	Het
Slc10a5	G	T	3: 10,400,451 (GRCm39)	Q70K	probably benign	Het
Smg8	A	G	11: 86,976,129 (GRCm39)	V484A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stag1	T	A	9: 100,770,353 (GRCm39)	S630T	probably benign	Het
Thyn1	A	C	9: 26,916,509 (GRCm39)	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,614,443 (GRCm39)	R203G	possibly damaging	Het
Ttn	T	C	2: 76,708,860 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,179 (GRCm39)	S99L	probably benign	Het
Vmn2r50	T	A	7: 9,781,605 (GRCm39)	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,507,375 (GRCm39)	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,672,214 (GRCm39)	S168P	probably benign	Het
Zc3h7a	A	G	16: 10,963,117 (GRCm39)	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,820,217 (GRCm39)	E913Q	probably benign	Het
Zfp974	G	T	7: 27,610,506 (GRCm39)	F406L	possibly damaging	Het
Zic4	G	A	9: 91,266,199 (GRCm39)	C274Y	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GTCAAATTCACCCGGCGTTTTCAC -3'
(R):5'- AGGGCTTGGACATTACTCTCCTGTG -3'

Sequencing Primer
(F):5'- CGGCGTTTTCACATAGACGTG -3'
(R):5'- TACTCTCCTGTGGAAATGCAAGG -3'

Posted On

2014-05-23