Mutagenetix > Incidental Mutations

Incidental Mutation 'R5468:Nbr1'

433366

Institutional Source

Beutler Lab

Gene Symbol

Nbr1

Ensembl Gene

ENSMUSG00000017119

Gene Name

neighbor of Brca1 gene 1

Synonyms

MMRRC Submission

043029-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101552149-101581951 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101572464 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 586 (M586L)

Ref Sequence

ENSEMBL: ENSMUSP00000133619 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071537
AA Change: M586L

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: M586L

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 benign
Transcript: ENSMUST00000103098
AA Change: M586L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: M586L

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: ENSMUST00000103099
AA Change: M586L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: M586L

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: ENSMUST00000107208
AA Change: M586L

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: M586L

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 benign
Transcript: ENSMUST00000107212
AA Change: M586L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: M586L

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 benign
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 benign
Transcript: ENSMUST00000107218
AA Change: M586L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: M586L

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
AA Change: M586L

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: M586L

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: ENSMUST00000148805

Predicted Effect

unknown
Transcript: ENSMUST00000149019
AA Change: M345L

SMART Domains

Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: M345L

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: ENSMUST00000149170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174013

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,360,235	R181Q	probably damaging	Het
Abca13	T	A	11: 9,294,062	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,206,098	I180N	probably benign	Het
Adam12	T	C	7: 133,975,473	D221G	probably damaging	Het
Adamts4	A	G	1: 171,252,609	T244A	probably benign	Het
Adrb2	A	T	18: 62,179,625	I43N	probably damaging	Het
Anxa1	A	T	19: 20,378,483	Y207N	probably damaging	Het
Apba2	T	C	7: 64,745,762	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,912,671	I593K	probably damaging	Het
Arsj	T	C	3: 126,438,388	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,059,970		probably null	Het
C2cd2	C	T	16: 97,868,591		probably null	Het
C530008M17Rik	A	T	5: 76,840,763		probably benign	Het
Cenpf	A	T	1: 189,652,371	S2571T	probably damaging	Het
Cep162	A	C	9: 87,227,237	L438V	probably benign	Het
Cfap74	A	T	4: 155,426,041	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,628	I548T	probably damaging	Het
Dglucy	A	G	12: 100,850,335	N382S	probably benign	Het
Dnah10	C	A	5: 124,830,493	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,316,678	M281L	probably benign	Het
Fam186b	A	G	15: 99,278,870	I713T	possibly damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fry	A	T	5: 150,399,588	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,603,235	I231V	probably benign	Het
Gbf1	A	G	19: 46,284,296	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,131,649	P5S	probably damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Impg1	T	C	9: 80,465,265	I9V	probably benign	Het
Lama4	A	G	10: 39,072,682		probably null	Het
Lamc1	A	G	1: 153,233,564	S1161P	probably damaging	Het
Lipm	T	A	19: 34,109,554		probably null	Het
Lrrc7	G	T	3: 158,318,436	N107K	probably damaging	Het
Lypd8	T	C	11: 58,386,760	S123P	probably damaging	Het
Man2a2	T	C	7: 80,352,981	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,807,175	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,322,414	C71Y	probably benign	Het
Mtus1	A	G	8: 41,084,578	S34P	probably benign	Het
Myo3b	A	G	2: 70,234,441	N406S	probably benign	Het
Nfatc1	C	T	18: 80,649,855	R677H	probably benign	Het
Nlrc3	A	C	16: 3,964,035	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,365,000	F968I	probably benign	Het
Olfr340	A	T	2: 36,453,443	N286I	probably damaging	Het
Olfr881	G	A	9: 37,993,011	C168Y	probably damaging	Het
Olfr951	A	G	9: 39,393,961	N57D	probably benign	Het
Onecut1	A	T	9: 74,863,332	T346S	probably damaging	Het
Pclo	A	T	5: 14,680,952	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562		probably null	Het
Plcb4	T	C	2: 135,967,152	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,628,100	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,230,890	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,225,444	F69L	possibly damaging	Het
Prss27	C	A	17: 24,038,313	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,321,046	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,448,365	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,956,627	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,032,031	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 5,167,140		probably null	Het
Sepsecs	A	T	5: 52,644,014	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,446,210	K223E	probably benign	Het
Sh3tc2	G	A	18: 61,973,431		probably null	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Tmprss7	A	G	16: 45,656,448	F817S	probably damaging	Het
Tril	T	C	6: 53,819,647	N197D	probably damaging	Het
Tspan18	T	C	2: 93,209,862	T183A	probably benign	Het
Uroc1	A	T	6: 90,338,604	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,161	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,995,519	Y592H	probably benign	Het
Zfp553	T	C	7: 127,237,030	S586P	probably benign	Het
Zfp619	C	T	7: 39,535,728	A394V	unknown	Het
Zfp985	A	G	4: 147,583,245	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,550,337	D309E	probably benign	Het
Zmynd15	T	C	11: 70,461,820	L73P	probably 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
R2211:Nbr1	UTSW	11	101567264	critical splice donor 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
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
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'- TCAGCTTTGATGAGCCAGAGC -3'
(R):5'- CATCGATTTGCTGAGGTAGAGG -3'

Sequencing Primer
(F):5'- CTAGTTGCGTTCCTGGTGAGC -3'
(R):5'- ATCGATTTGCTGAGGTAGAGGTAATG -3'

Posted On

2016-10-06