Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Nbas'

576007

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

045503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13519881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1598 (V1598L)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably damaging
Transcript: ENSMUST00000042953
AA Change: V1598L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: V1598L

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: 99.8%
20x: 99.3%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,456 (GRCm39)	E215G	probably benign	Het
Adam8	T	A	7: 139,572,394 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,104 (GRCm39)	S797G	not run	Het
Anxa3	T	A	5: 96,982,680 (GRCm39)	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,557,426 (GRCm39)	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,305,682 (GRCm39)	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,116,278 (GRCm39)	Q613*	probably null	Het
Bltp1	T	A	3: 37,002,490 (GRCm39)	H1478Q	probably benign	Het
Bltp1	A	T	3: 37,037,543 (GRCm39)	H2448L	probably benign	Het
Bmpr2	T	G	1: 59,906,510 (GRCm39)	N534K	probably benign	Het
C1qbp	T	C	11: 70,869,072 (GRCm39)		probably null	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
C1ql3	T	G	2: 13,015,229 (GRCm39)	K144Q	possibly damaging	Het
C3	T	C	17: 57,511,039 (GRCm39)	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,052,148 (GRCm39)	Y252N	probably benign	Het
Capn13	T	C	17: 73,625,053 (GRCm39)	I632M	probably benign	Het
Catsperb	A	G	12: 101,557,757 (GRCm39)	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,856,179 (GRCm39)	V242D	probably damaging	Het
Cd68	T	C	11: 69,555,938 (GRCm39)	D200G	probably benign	Het
Cela3a	T	C	4: 137,132,899 (GRCm39)	N118D	probably benign	Het
Celsr2	A	G	3: 108,309,773 (GRCm39)	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,177,666 (GRCm39)	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,766,868 (GRCm39)	E190D	probably benign	Het
Cntnap3	G	A	13: 64,906,066 (GRCm39)	R847C	probably damaging	Het
Cntrob	G	A	11: 69,205,560 (GRCm39)	Q425*	probably null	Het
Commd9	G	A	2: 101,730,245 (GRCm39)	W128*	probably null	Het
Csnk1a1	C	T	18: 61,718,330 (GRCm39)	S352L	unknown	Het
Dact2	A	G	17: 14,416,593 (GRCm39)	S536P	probably damaging	Het
Ddx25	A	G	9: 35,465,882 (GRCm39)	I113T	probably benign	Het
Dscam	T	A	16: 96,430,598 (GRCm39)	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fryl	T	C	5: 73,262,091 (GRCm39)	T559A	probably damaging	Het
Hpx	C	A	7: 105,241,068 (GRCm39)	D402Y	probably damaging	Het
Ints13	A	G	6: 146,476,198 (GRCm39)		probably null	Het
Ipcef1	T	C	10: 6,906,066 (GRCm39)	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,780,031 (GRCm39)	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,518,362 (GRCm39)		probably null	Het
Lmod2	A	T	6: 24,603,475 (GRCm39)	H150L	probably benign	Het
Lrch3	T	C	16: 32,826,077 (GRCm39)	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287 (GRCm39)	V1082A	probably benign	Het
Nrxn3	C	T	12: 89,479,870 (GRCm39)	R671*	probably null	Het
Or4c110	A	T	2: 88,832,544 (GRCm39)	F29L		Het
Or4c58	A	G	2: 89,674,789 (GRCm39)	L176P	probably damaging	Het
Or52e8	A	T	7: 104,624,268 (GRCm39)	L312*	probably null	Het
Or5a3	A	C	19: 12,400,204 (GRCm39)	H177P	probably damaging	Het
Or6d14	A	T	6: 116,533,398 (GRCm39)	E4V	possibly damaging	Het
Pcdhga6	T	A	18: 37,841,619 (GRCm39)	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,320,303 (GRCm39)	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,192,933 (GRCm39)	R245C	probably damaging	Het
Rgl3	G	A	9: 21,888,123 (GRCm39)	Q464*	probably null	Het
Ryr2	T	C	13: 11,720,530 (GRCm39)	D2706G	probably benign	Het
Sbf2	G	A	7: 109,974,984 (GRCm39)	Q718*	probably null	Het
Sdad1	T	C	5: 92,447,980 (GRCm39)	T252A	probably benign	Het
Sgk1	T	C	10: 21,870,009 (GRCm39)	L16P	probably damaging	Het
Slc38a8	A	G	8: 120,212,327 (GRCm39)	S339P	possibly damaging	Het
Slc44a4	T	C	17: 35,140,667 (GRCm39)	S287P	possibly damaging	Het
Syne1	T	C	10: 5,375,760 (GRCm39)	I111V	probably damaging	Het
Synm	A	C	7: 67,383,194 (GRCm39)	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,365,269 (GRCm39)	F232L	probably benign	Het
Traf3	A	T	12: 111,227,095 (GRCm39)	K328*	probably null	Het
Trim38	C	A	13: 23,972,365 (GRCm39)	Q229K	probably benign	Het
Vcan	A	G	13: 89,837,951 (GRCm39)	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211 (GRCm39)	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,551 (GRCm39)	M1K	probably null	Het
Vmn2r87	T	C	10: 130,314,761 (GRCm39)	N275S	probably damaging	Het
Vps13a	T	A	19: 16,701,066 (GRCm39)	H701L	probably benign	Het
Vrk3	T	A	7: 44,420,348 (GRCm39)		probably null	Het
Zfp993	T	A	4: 146,742,098 (GRCm39)	S141T	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
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'- AAAGTGCTACTTCCGACTTGGC -3'
(R):5'- AAGTGACCCCTTACTCTGCC -3'

Sequencing Primer
(F):5'- ACTTCCGACTTGGCTTTTAGG -3'
(R):5'- AGGCCCAGGATGGTTTCTC -3'

Posted On

2019-10-07