Mutagenetix > Incidental Mutation

Incidental Mutation 'R4752:Nbas'

357691

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

042032-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13532538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1749 (T1749A)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042953
AA Change: T1749A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: T1749A

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: ENSMUST00000221714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223081

Meta Mutation Damage Score

0.1737

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (68/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,775,751 (GRCm39)	Q1647K	possibly damaging	Het
Abcf3	A	G	16: 20,369,326 (GRCm39)	E236G	probably damaging	Het
Adamts17	A	G	7: 66,654,218 (GRCm39)	T483A	probably damaging	Het
Ankrd26	G	T	6: 118,517,426 (GRCm39)	P465Q	probably null	Het
Babam2	C	T	5: 31,859,391 (GRCm39)		probably benign	Het
Bpifb1	T	A	2: 154,058,200 (GRCm39)		probably benign	Het
Ccnb1ip1	T	A	14: 51,031,122 (GRCm39)	T64S	possibly damaging	Het
Cdhr3	A	G	12: 33,136,102 (GRCm39)	V46A	probably damaging	Het
Cep170	A	T	1: 176,584,254 (GRCm39)	D708E	probably benign	Het
Cpsf6	A	T	10: 117,197,273 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,286,219 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,572,528 (GRCm39)	F42I	probably benign	Het
Dip2a	A	T	10: 76,112,491 (GRCm39)	V1059E	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,496,364 (GRCm39)	I3K	probably benign	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Eif2b4	G	A	5: 31,348,575 (GRCm39)	R213*	probably null	Het
Eif3b	A	G	5: 140,426,856 (GRCm39)	D704G	probably benign	Het
Epn2	T	C	11: 61,437,197 (GRCm39)	E125G	probably damaging	Het
F830016B08Rik	A	G	18: 60,434,153 (GRCm39)	N412S	probably benign	Het
Fbln2	A	G	6: 91,233,225 (GRCm39)	M570V	probably benign	Het
Gm16686	A	T	4: 88,673,725 (GRCm39)		probably benign	Het
Hook2	C	T	8: 85,729,349 (GRCm39)	Q632*	probably null	Het
Ipcef1	A	T	10: 6,929,573 (GRCm39)	W56R	probably damaging	Het
Krt78	T	C	15: 101,856,637 (GRCm39)	I418M	probably benign	Het
Limk1	G	A	5: 134,699,295 (GRCm39)	T154I	probably damaging	Het
Lyl1	A	T	8: 85,430,910 (GRCm39)	T271S	probably benign	Het
Megf6	A	G	4: 154,336,895 (GRCm39)	I333V	probably damaging	Het
Meioc	A	G	11: 102,565,259 (GRCm39)	T236A	probably benign	Het
Nfib	T	A	4: 82,215,016 (GRCm39)	Q529L	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nisch	A	T	14: 30,914,545 (GRCm39)	F42L	probably damaging	Het
Nomo1	T	A	7: 45,706,626 (GRCm39)	Y547N	probably damaging	Het
Or10g3	C	T	14: 52,609,764 (GRCm39)	V249I	probably damaging	Het
Or13a24	T	C	7: 140,154,515 (GRCm39)	S150P	possibly damaging	Het
Or5l14	A	G	2: 87,792,693 (GRCm39)	L181P	probably damaging	Het
Or8g51	T	C	9: 38,609,266 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,709,563 (GRCm39)	N117I	probably damaging	Het
Prkn	T	C	17: 12,223,010 (GRCm39)	S387P	probably benign	Het
Prl3c1	A	T	13: 27,387,508 (GRCm39)	K164N	probably benign	Het
Prr23a3	T	A	9: 98,747,700 (GRCm39)	L218Q	probably damaging	Het
Prss43	A	G	9: 110,656,836 (GRCm39)	H114R	possibly damaging	Het
Ptcd3	A	T	6: 71,878,296 (GRCm39)	M142K	probably damaging	Het
Shisa7	G	A	7: 4,837,249 (GRCm39)	T89I	possibly damaging	Het
Slco1a1	C	T	6: 141,892,340 (GRCm39)	A9T	possibly damaging	Het
Srcap	C	T	7: 127,158,172 (GRCm39)		probably benign	Het
Tdg-ps	G	A	15: 82,400,572 (GRCm39)		noncoding transcript	Het
Tgm4	A	G	9: 122,880,451 (GRCm39)	D284G	probably damaging	Het
Tmc1	T	A	19: 20,804,013 (GRCm39)	I355F	probably benign	Het
Tmem121b	A	T	6: 120,469,995 (GRCm39)	F241I	possibly damaging	Het
Tmem200c	T	A	17: 69,149,235 (GRCm39)	V606E	probably benign	Het
Ttc39c	A	G	18: 12,861,782 (GRCm39)	K370R	probably benign	Het
Vmn2r87	G	A	10: 130,314,336 (GRCm39)	Q417*	probably null	Het
Vps45	T	C	3: 95,955,699 (GRCm39)	Y97C	possibly damaging	Het
Zfp407	A	G	18: 84,581,039 (GRCm39)	S25P	probably benign	Het
Zfp566	A	G	7: 29,777,306 (GRCm39)	S292P	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
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
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'- TGTCTGCCAGGGATTAAAGATAATG -3'
(R):5'- AGCTGGCTGTGTGTAGAAAATC -3'

Sequencing Primer
(F):5'- ATAGTATTGTAACGTAGACTGTTTGG -3'
(R):5'- CTGGCTGTGTGTAGAAAATCCCTAG -3'

Posted On

2015-11-11