Mutagenetix > Incidental Mutation

Incidental Mutation 'R0449:Nbas'

39546

Institutional Source

Beutler Lab

Gene Symbol

Nbas

Ensembl Gene

ENSMUSG00000020576

Gene Name

neuroblastoma amplified sequence

Synonyms

4933425L03Rik

MMRRC Submission

038649-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13319134-13633812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13569109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 2021 (I2021K)

Ref Sequence

ENSEMBL: ENSMUSP00000036082 (fasta)

Gene Model

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

AlphaFold

E9Q411

Predicted Effect

probably benign
Transcript: ENSMUST00000042953
AA Change: I2021K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: I2021K

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: ENSMUST00000223081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223424

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,885 (GRCm39)	R813*	probably null	Het
Accsl	T	A	2: 93,696,419 (GRCm39)	I60F	probably benign	Het
Adam29	C	T	8: 56,325,716 (GRCm39)	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,697,351 (GRCm39)	I319V	probably benign	Het
Bag6	T	G	17: 35,360,442 (GRCm39)	V327G	probably damaging	Het
Barhl1	C	T	2: 28,805,304 (GRCm39)	A130T	probably benign	Het
Bend4	T	C	5: 67,555,583 (GRCm39)	D541G	probably damaging	Het
Birc6	A	C	17: 74,999,290 (GRCm39)	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,539,679 (GRCm39)	R186G	probably damaging	Het
Cdyl2	A	G	8: 117,309,931 (GRCm39)	F342L	probably damaging	Het
Chd3	C	A	11: 69,248,367 (GRCm39)	V748L	probably damaging	Het
CN725425	G	T	15: 91,123,147 (GRCm39)	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,834,520 (GRCm39)		probably null	Het
Cops3	A	G	11: 59,709,243 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,433,606 (GRCm39)	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,641,971 (GRCm39)	Q45*	probably null	Het
Efr3a	T	A	15: 65,714,553 (GRCm39)	I280K	probably damaging	Het
Eml6	A	C	11: 29,843,213 (GRCm39)	V167G	probably benign	Het
Fam83c	T	A	2: 155,672,215 (GRCm39)	M407L	probably benign	Het
Fasn	T	C	11: 120,701,894 (GRCm39)	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,420,155 (GRCm39)	I486T	probably damaging	Het
Gpr182	A	G	10: 127,586,565 (GRCm39)	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,842,456 (GRCm39)	S454G	probably damaging	Het
Hectd4	G	A	5: 121,502,653 (GRCm39)		probably null	Het
Hsf4	A	G	8: 106,002,222 (GRCm39)	T411A	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il4	A	T	11: 53,509,432 (GRCm39)	M1K	probably null	Het
Ints11	G	T	4: 155,972,405 (GRCm39)	R463L	probably benign	Het
Ints4	G	A	7: 97,178,430 (GRCm39)	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,647,216 (GRCm39)	C50Y	probably damaging	Het
Krt14	C	A	11: 100,098,221 (GRCm39)	G21C	unknown	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lama3	A	G	18: 12,633,569 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,634,478 (GRCm39)	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,687 (GRCm39)	S684P	probably damaging	Het
Mga	T	A	2: 119,771,862 (GRCm39)	V1574D	probably damaging	Het
Mia2	T	C	12: 59,219,380 (GRCm39)		probably null	Het
Mrpl21	T	A	19: 3,342,459 (GRCm39)		probably benign	Het
Msh5	T	A	17: 35,260,458 (GRCm39)	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,376,822 (GRCm39)	C758F	probably damaging	Het
Myo15a	G	A	11: 60,400,422 (GRCm39)	A2932T	possibly damaging	Het
Neurl4	T	C	11: 69,796,393 (GRCm39)	S424P	probably damaging	Het
Or10j5	T	A	1: 172,784,965 (GRCm39)	V201E	probably damaging	Het
Or2w3	A	C	11: 58,556,789 (GRCm39)	I135L	probably benign	Het
Or6c6	A	G	10: 129,187,103 (GRCm39)	M224V	probably benign	Het
Or7g17	T	C	9: 18,767,945 (GRCm39)	M8T	probably benign	Het
Or7g32	T	A	9: 19,389,388 (GRCm39)	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,278,308 (GRCm39)	R907W	probably damaging	Het
Pigg	T	C	5: 108,484,277 (GRCm39)	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,364,915 (GRCm39)	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,534,534 (GRCm39)	I34N	probably damaging	Het
Pramel17	T	C	4: 101,694,158 (GRCm39)	S242G	probably benign	Het
Prex1	A	G	2: 166,411,297 (GRCm39)	V1434A	probably benign	Het
Ptprh	T	A	7: 4,601,005 (GRCm39)	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131 (GRCm39)	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507 (GRCm39)	N493S	probably benign	Het
Rfx7	A	T	9: 72,517,586 (GRCm39)		probably null	Het
Serpini1	A	G	3: 75,520,648 (GRCm39)	K82E	probably benign	Het
Slc27a6	T	G	18: 58,742,237 (GRCm39)		probably null	Het
Slc35f2	G	T	9: 53,724,201 (GRCm39)	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,727,762 (GRCm39)	I158M	probably damaging	Het
Slurp2	G	A	15: 74,614,955 (GRCm39)	P62L	probably damaging	Het
Sspo	C	T	6: 48,443,674 (GRCm39)	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,634,715 (GRCm39)	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,757,857 (GRCm39)	I217L	probably damaging	Het
Top1	C	T	2: 160,554,628 (GRCm39)	R460*	probably null	Het
Trpm3	T	A	19: 22,965,418 (GRCm39)	S1638T	probably benign	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Vars1	T	G	17: 35,231,703 (GRCm39)		probably null	Het
Xylt2	A	G	11: 94,557,159 (GRCm39)	Y111H	probably benign	Het
Zbed5	G	A	5: 129,930,567 (GRCm39)	G172D	probably damaging	Het
Zfp53	C	T	17: 21,729,095 (GRCm39)	T376I	probably benign	Het
Zfp937	G	T	2: 150,081,466 (GRCm39)	V499L	probably benign	Het
Zyx	T	A	6: 42,328,247 (GRCm39)	L152Q	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
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'- TTCACAGTGCCCTCTGGTCACAAG -3'
(R):5'- TACGGCATACTTCTCCATGCCTGG -3'

Sequencing Primer
(F):5'- GCTTGTAGACCATGCGAATATC -3'
(R):5'- CATGCCTGGGGATAACTTAGC -3'

Posted On

2013-05-23