Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Nbas'

30491

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13381096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 696 (T696I)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably damaging
Transcript: ENSMUST00000042953
AA Change: T696I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: T696I

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: ENSMUST00000221212

Meta Mutation Damage Score

0.3898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTTTTGCCTCAGACAGACAG -3'
(R):5'- AATCAACACAGTTCCTCTGCCTCG -3'

Sequencing Primer
(F):5'- CAAAAGGAACTGTGCCGTTG -3'
(R):5'- tcctctgcctcggcttc -3'

Posted On

2013-04-24