Mutagenetix > Incidental Mutations

Incidental Mutation 'R6965:Nbn'

541931

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15970863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 282 (I282T)

Ref Sequence

ENSEMBL: ENSMUSP00000120829 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: I282T

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: I282T

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

probably benign
Transcript: ENSMUST00000149069
AA Change: I282T

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: I282T

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,283,229	Q1205*	probably null	Het
Als2	A	G	1: 59,170,557	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,835,751	V68A	possibly damaging	Het
Atmin	T	C	8: 116,957,038	F479S	probably damaging	Het
Atp7b	T	C	8: 22,028,085	T234A	probably benign	Het
Bpifa1	G	A	2: 154,145,661	G144S	probably damaging	Het
Brf2	A	T	8: 27,124,558	M200K	probably benign	Het
C1ql2	G	A	1: 120,341,215	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,117,581	V269A	probably damaging	Het
Clcc1	T	C	3: 108,673,309	V313A	probably damaging	Het
Cntrl	A	T	2: 35,162,833	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533	E236K	probably damaging	Het
Comp	T	C	8: 70,376,514	L278P	probably damaging	Het
Dlg5	C	A	14: 24,149,430	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,279,475	V23D	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915	Y516C	probably damaging	Het
Esr2	T	C	12: 76,121,857	D526G	probably damaging	Het
Fam184b	T	C	5: 45,555,135	T514A	probably benign	Het
Fcmr	A	C	1: 130,875,987	E176A	possibly damaging	Het
Fry	T	A	5: 150,416,220	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,650,881	C156R	probably damaging	Het
Gm10031	C	T	1: 156,524,549	R107*	probably null	Het
Gm5431	T	C	11: 48,895,200	Y116C	probably benign	Het
Gm5493	T	A	17: 22,748,074	V61E	possibly damaging	Het
Golga4	A	T	9: 118,548,779	Q456L	probably damaging	Het
Gpam	T	C	19: 55,074,609	Y757C	probably damaging	Het
Iqcg	C	T	16: 33,030,804	A266T	probably benign	Het
Lta4h	G	T	10: 93,471,897	G331*	probably null	Het
Macf1	C	A	4: 123,408,745	V655F	probably benign	Het
Map3k13	T	A	16: 21,922,150	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,552,849	L43F	probably damaging	Het
N4bp1	T	C	8: 86,844,833	R846G	probably damaging	Het
Ncor1	C	T	11: 62,353,233		probably null	Het
Olfr1250	G	T	2: 89,656,665	P259T	probably damaging	Het
Olfr1426	A	G	19: 12,088,756	F12S	possibly damaging	Het
Olfr874	T	A	9: 37,746,137	M1K	probably null	Het
Pclo	A	G	5: 14,681,962		probably benign	Het
Pde9a	G	T	17: 31,443,887	V97L	probably benign	Het
Ptch1	T	C	13: 63,525,067	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,562,845	D94N	probably damaging	Het
Rnpep	T	A	1: 135,263,120	K602*	probably null	Het
Rph3al	T	C	11: 75,854,450	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,433,911	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,325,876	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,259,881	H459R	probably damaging	Het
Spata31	A	C	13: 64,922,834	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,723,129	A963T	probably damaging	Het
Syne1	A	T	10: 5,229,120	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 53,856,924		probably null	Het
Thap12	T	A	7: 98,715,462	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,444,128	D544G	probably damaging	Het
Tox2	A	G	2: 163,323,010	*523W	probably null	Het
Txnrd1	T	C	10: 82,881,818	I212T	probably benign	Het
Unc80	T	C	1: 66,646,566	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,835,674	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,591,022	T456I	probably benign	Het
Vmn2r79	T	A	7: 87,001,892	H166Q	probably benign	Het
Zer1	A	G	2: 30,101,047	V723A	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
R1579:Nbn	UTSW	4	15964289	missense	probably damaging	0.99
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
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'- GAGAATGTGCTCAGAACCCTCAC -3'
(R):5'- AGATATTCCACTGCCTAGCATCG -3'

Sequencing Primer
(F):5'- AGAACCCTCACTGCAGCTGG -3'
(R):5'- TGCCTAGCATCGCACATC -3'

Posted On

2018-11-28