Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Nbas'

679277

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13463590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1292 (H1292Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably benign
Transcript: ENSMUST00000042953
AA Change: H1292Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: H1292Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
4930516K23Rik	G	A	7: 103,708,083 (GRCm39)	T242M	probably damaging	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Akr1b1	A	T	6: 34,289,639 (GRCm39)	V57E	probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cd79b	T	A	11: 106,203,632 (GRCm39)	Q145L	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or52e2	T	C	7: 102,804,660 (GRCm39)	D98G	probably benign	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Tpm3-rs7	T	C	14: 113,552,493 (GRCm39)	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	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
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
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'- TATGATCTCTTCCAAGTCCTGGG -3'
(R):5'- AGATAAACTATAGCACCTGAGTCC -3'

Sequencing Primer
(F):5'- GGGGATTTCCATGCATAAAAAGTAG -3'
(R):5'- CACGCTTGCTACTAACAAAATGTATC -3'

Posted On

2021-08-02