Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Nbas'

577312

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13443499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1185 (T1185S)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably benign
Transcript: ENSMUST00000042953
AA Change: T1185S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: T1185S

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% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,503,650 (GRCm39)	I275T	possibly damaging	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,137,610 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Spock1	A	G	13: 57,583,898 (GRCm39)	I339T	unknown	Het
Srsf6	T	A	2: 162,776,636 (GRCm39)	S327T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	Het
Zfp629	T	C	7: 127,210,201 (GRCm39)	E536G	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
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
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'- ATTTACGGAGAGCCTTCTGTG -3'
(R):5'- TAATGAGCAAAATGACTCAGCC -3'

Sequencing Primer
(F):5'- AGAGCCTTCTGTGCTCCAG -3'
(R):5'- TGCCAGTAAGGGGAGGG -3'

Posted On

2019-10-07