Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Nbr1'

239399

Institutional Source

Beutler Lab

Gene Symbol

Nbr1

Ensembl Gene

ENSMUSG00000017119

Gene Name

neighbor of Brca1 gene 1

Synonyms

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101552149-101581951 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 101567264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071537] [ENSMUST00000071537] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000107218] [ENSMUST00000107218] [ENSMUST00000123558]

AlphaFold

P97432

Predicted Effect

probably null
Transcript: ENSMUST00000071537

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	2.05e-8	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
Pfam:N_BRCA1_IG	378	479	7.1e-34	PFAM
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000071537

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	2.05e-8	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
Pfam:N_BRCA1_IG	378	479	7.1e-34	PFAM
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000103098

SMART Domains

Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000103099

SMART Domains

Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107208

SMART Domains

Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	1e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107212

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	3e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	689	719	N/A	INTRINSIC
PDB:2MJ5\|B	910	956	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107212

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	3e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	689	719	N/A	INTRINSIC
PDB:2MJ5\|B	910	956	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107213

SMART Domains

Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	2e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	677	707	N/A	INTRINSIC
PDB:2MJ5\|B	898	944	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107218

SMART Domains

Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107218

SMART Domains

Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123558

SMART Domains

Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	2e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146452

Predicted Effect

probably null
Transcript: ENSMUST00000149019

SMART Domains

Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
coiled coil region	50	89	N/A	INTRINSIC
Pfam:N_BRCA1_IG	138	239	2.3e-34	PFAM
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	473	500	N/A	INTRINSIC
PDB:2MJ5\|B	659	705	1e-24	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000149019

SMART Domains

Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
coiled coil region	50	89	N/A	INTRINSIC
Pfam:N_BRCA1_IG	138	239	2.3e-34	PFAM
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	473	500	N/A	INTRINSIC
PDB:2MJ5\|B	659	705	1e-24	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149170

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice of the genetic truncation allele had an age-dependent increase in bone mass and bone mineral density. Mice homozygous for a floxed allele activated in T cells exhibit decreased ovalbumin-induced inflammation and defective Th2 polarization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	possibly damaging	Het

Other mutations in Nbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02187:Nbr1	APN	11	101569359	missense	possibly damaging	0.91
IGL02192:Nbr1	APN	11	101569591	missense	probably damaging	1.00
IGL02259:Nbr1	APN	11	101577990	missense	probably damaging	0.99
IGL02951:Nbr1	APN	11	101571979	critical splice donor site	probably null
IGL02994:Nbr1	APN	11	101556227	missense	probably damaging	1.00
R0087:Nbr1	UTSW	11	101564693	missense	probably benign	0.16
R0630:Nbr1	UTSW	11	101567087	unclassified	probably benign
R0723:Nbr1	UTSW	11	101576319	nonsense	probably null
R0733:Nbr1	UTSW	11	101576371	missense	probably benign	0.00
R1482:Nbr1	UTSW	11	101572841	missense	probably benign	0.34
R1567:Nbr1	UTSW	11	101575211	missense	probably damaging	0.98
R1570:Nbr1	UTSW	11	101564830	unclassified	probably benign
R1668:Nbr1	UTSW	11	101569766	missense	probably benign	0.00
R1759:Nbr1	UTSW	11	101559543	missense	probably damaging	1.00
R1903:Nbr1	UTSW	11	101575152	missense	probably damaging	0.98
R1927:Nbr1	UTSW	11	101567214	missense	possibly damaging	0.78
R2131:Nbr1	UTSW	11	101566191	splice site	probably null
R2255:Nbr1	UTSW	11	101572817	missense	possibly damaging	0.80
R4270:Nbr1	UTSW	11	101567222	missense	possibly damaging	0.87
R4271:Nbr1	UTSW	11	101567222	missense	possibly damaging	0.87
R4710:Nbr1	UTSW	11	101575275	missense	probably damaging	1.00
R4947:Nbr1	UTSW	11	101575077	missense	probably benign	0.06
R5468:Nbr1	UTSW	11	101572464	missense	probably benign	0.10
R5554:Nbr1	UTSW	11	101564807	missense	probably benign	0.34
R5771:Nbr1	UTSW	11	101559538	missense	probably damaging	1.00
R6119:Nbr1	UTSW	11	101567112	splice site	probably null
R6400:Nbr1	UTSW	11	101565774	missense	probably damaging	1.00
R6603:Nbr1	UTSW	11	101556105	unclassified	probably benign
R6943:Nbr1	UTSW	11	101577951	missense	probably damaging	1.00
R7347:Nbr1	UTSW	11	101569321	nonsense	probably null
R7472:Nbr1	UTSW	11	101571939	missense	probably damaging	1.00
R7501:Nbr1	UTSW	11	101566200	missense	probably damaging	1.00
R7709:Nbr1	UTSW	11	101556241	missense	probably damaging	1.00
R7744:Nbr1	UTSW	11	101569384	missense	probably damaging	1.00
R7795:Nbr1	UTSW	11	101569328	missense	probably damaging	1.00
R8865:Nbr1	UTSW	11	101564694	missense	probably benign	0.00
R9377:Nbr1	UTSW	11	101565764	missense	possibly damaging	0.95
R9615:Nbr1	UTSW	11	101575152	missense	probably benign	0.02
R9667:Nbr1	UTSW	11	101560435	missense	possibly damaging	0.68
R9801:Nbr1	UTSW	11	101556199	missense	probably damaging	0.99
X0019:Nbr1	UTSW	11	101567124	missense	possibly damaging	0.50
Z1176:Nbr1	UTSW	11	101572554	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCCTATGCCCATCCTACAAC -3'
(R):5'- AGTGCTGGGGATTACATCTGATT -3'

Sequencing Primer
(F):5'- TGCCCATCCTACAACATTTGTGAAG -3'
(R):5'- TGTGCCTGATGCTCACAAAAG -3'

Posted On

2014-10-15