Mutagenetix > Incidental Mutations

Incidental Mutation 'R1579:Nbn'

171273

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

039616-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15964289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 121 (D121E)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]

AlphaFold

Q9R207

Predicted Effect

probably damaging
Transcript: ENSMUST00000029879
AA Change: D121E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: D121E

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
FHA	23	83	2.27e-4	SMART
BRCT	103	184	6.37e0	SMART
Pfam:NIBRIN_BRCT_II	216	325	2.2e-34	PFAM
low complexity region	557	565	N/A	INTRINSIC
Nbs1_C	680	744	2.14e-34	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149069
AA Change: D121E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: D121E

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
FHA	23	83	2.27e-4	SMART
BRCT	103	184	6.37e0	SMART
PDB:2K2W\|A	217	326	3e-32	PDB

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	C	16: 3,906,175	R162G	probably benign	Het
Adamtsl4	T	A	3: 95,685,497		probably benign	Het
Adgrv1	A	T	13: 81,563,779	L306H	probably damaging	Het
Aknad1	T	A	3: 108,752,136	Y155*	probably null	Het
Aldh6a1	C	T	12: 84,441,848	R88H	possibly damaging	Het
Apc2	G	C	10: 80,311,345	K715N	probably damaging	Het
Arhgap45	G	A	10: 80,028,977	V798M	probably damaging	Het
BC037034	T	C	5: 138,261,866	I338V	probably benign	Het
Calcrl	T	C	2: 84,333,537	T437A	probably benign	Het
Cdan1	A	G	2: 120,730,739	F183L	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cntnap4	A	G	8: 112,881,830	E1294G	possibly damaging	Het
Crybg3	C	A	16: 59,530,198	G2607V	probably damaging	Het
Dhx29	G	T	13: 112,935,598		probably null	Het
Dmrtb1	T	A	4: 107,684,125	H13L	probably damaging	Het
Echdc2	A	G	4: 108,173,809	M162V	probably benign	Het
Entpd8	A	G	2: 25,084,974	D439G	possibly damaging	Het
Fastkd2	C	G	1: 63,745,887	H477Q	probably null	Het
Fbrs	A	G	7: 127,485,357	E517G	probably damaging	Het
Gchfr	A	G	2: 119,172,021	T71A	possibly damaging	Het
Hecw1	A	T	13: 14,377,907	C35S	probably damaging	Het
Izumo1r	C	T	9: 14,901,802	R58H	probably benign	Het
Kif13a	T	C	13: 46,752,856	E537G	possibly damaging	Het
Kif13b	G	A	14: 64,782,341		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Lnpk	A	T	2: 74,547,996	D140E	probably damaging	Het
Ltbp1	A	G	17: 75,252,367	M284V	probably benign	Het
Me3	A	T	7: 89,845,842	T323S	possibly damaging	Het
Mtus1	A	G	8: 41,082,858	V607A	probably damaging	Het
Myh14	A	T	7: 44,655,694		probably null	Het
Myo1h	T	A	5: 114,347,435	C545*	probably null	Het
Nox4	A	G	7: 87,370,023	Y408C	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1153	G	A	2: 87,896,942	A248T	probably benign	Het
Olfr1491	A	G	19: 13,705,202	D125G	probably damaging	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Osbpl5	T	C	7: 143,709,202	T150A	possibly damaging	Het
Pgap3	C	A	11: 98,390,053	M265I	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd2l2	A	T	18: 34,427,393	N351I	possibly damaging	Het
Prkdc	T	A	16: 15,675,328	Y700N	probably benign	Het
Pzp	A	G	6: 128,523,968		probably null	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rptor	A	T	11: 119,896,001	Q1264L	probably benign	Het
Scnn1a	T	C	6: 125,322,140	F61S	probably damaging	Het
Tenm2	C	A	11: 36,106,783	W825C	probably damaging	Het
Tex264	A	T	9: 106,681,917	I70N	possibly damaging	Het
Tns2	G	T	15: 102,111,210	D504Y	probably damaging	Het
Trpc2	T	A	7: 102,084,240	F132Y	probably damaging	Het
Trpm4	A	G	7: 45,308,597	F816S	probably damaging	Het
Uqcc1	G	A	2: 155,921,721	Q5*	probably null	Het
Usp36	G	T	11: 118,284,945	T130N	probably damaging	Het
Vav1	A	G	17: 57,297,252	M165V	probably benign	Het
Vmn1r64	A	T	7: 5,883,804	F247I	probably damaging	Het
Vmn2r26	G	C	6: 124,039,747	R390P	probably benign	Het
Vmn2r57	G	T	7: 41,400,124	H734N	probably benign	Het
Wfdc16	G	T	2: 164,635,923	H69N	possibly damaging	Het
Zfp316	C	T	5: 143,253,562	E901K	probably damaging	Het
Zfp334	T	C	2: 165,381,799	E108G	probably damaging	Het
Zfp407	T	C	18: 84,209,638	S1949G	probably benign	Het
Zfp408	A	G	2: 91,646,128	L227P	probably benign	Het
Zfp560	T	C	9: 20,347,991	H525R	possibly damaging	Het
Zfp609	G	A	9: 65,704,472	A403V	possibly damaging	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15964320	missense	probably benign	0.01
IGL00921:Nbn	APN	4	15963833	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15965221	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15986613	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15962362	missense	probably damaging	1.00
nebish	UTSW	4	15965132	critical splice acceptor site	probably null
zenobia	UTSW	4	15969391	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15986672	splice site	probably benign
R0244:Nbn	UTSW	4	15979353	missense	probably benign	0.00
R0432:Nbn	UTSW	4	15983951	unclassified	probably benign
R0946:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15981668	missense	possibly damaging	0.77
R1660:Nbn	UTSW	4	15971771	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15970903	missense	probably benign	0.13
R2005:Nbn	UTSW	4	15979351	missense	probably benign	0.01
R2010:Nbn	UTSW	4	15969393	missense	probably damaging	1.00
R2077:Nbn	UTSW	4	15979389	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15970863	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15962387	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15976163	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15964269	missense	probably damaging	0.98
R4756:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R5042:Nbn	UTSW	4	15981446	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15965132	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15963893	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15969391	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15986593	missense	probably benign
R6025:Nbn	UTSW	4	15981347	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15979327	missense	probably benign
R6543:Nbn	UTSW	4	15986605	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15981696	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15970863	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15981350	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15983677	splice site	probably null
R7241:Nbn	UTSW	4	15991190	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15979320	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15958080	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15981588	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15970893	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15981555	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15970833	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15986585	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTGACAAGTGTAACAGGGAAC -3'
(R):5'- GCCTATAACGGAGGGCAAACTGAC -3'

Sequencing Primer
(F):5'- AACAGGGAACTCAGCTTGTTTG -3'
(R):5'- ACTGACGGAACTTGATCTGAAC -3'

Posted On

2014-04-13