Mutagenetix > Incidental Mutation

Incidental Mutation 'R7937:Nbn'

648792

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

045983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7937 (G1)

Quality Score

126.008

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15958080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 3 (K3E)

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: K3E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: K3E

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 damaging
Transcript: ENSMUST00000149069
AA Change: K3E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: K3E

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: 100.0%
10x: 99.7%
20x: 99.0%

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
4922502D21Rik	A	G	6: 129,331,011	W32R	possibly damaging	Het
Abcb11	GTTGATCCATACA	G	2: 69,323,873		probably benign	Het
Ano6	C	A	15: 95,972,589	T875K	probably damaging	Het
Armc8	G	A	9: 99,536,219	T94I	probably damaging	Het
Ash1l	C	T	3: 89,070,317	R2685*	probably null	Het
Bri3bp	A	T	5: 125,454,331	N114Y	probably damaging	Het
Camkk2	G	T	5: 122,764,034	Q71K	probably benign	Het
Cc2d2b	T	C	19: 40,777,292	F49S		Het
Cdh10	A	G	15: 18,964,249	T166A	probably benign	Het
Chd8	A	G	14: 52,227,506	F633L	probably benign	Het
Cntn5	G	A	9: 9,748,445	T477I	probably damaging	Het
Cyp2c37	T	A	19: 39,993,758	Y68N	probably damaging	Het
Dnah2	A	T	11: 69,517,685	L53*	probably null	Het
Dnajc11	A	G	4: 151,950,452	D44G	probably damaging	Het
Elovl3	T	C	19: 46,134,729	F248S	probably damaging	Het
Etfdh	A	G	3: 79,609,816	L422P	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fgd4	A	G	16: 16,469,773	Y355H	probably damaging	Het
Fgfr2	A	G	7: 130,219,093	M237T	probably damaging	Het
Gdap1	A	T	1: 17,159,953	K203N	probably benign	Het
Glis1	A	G	4: 107,627,526	D594G	possibly damaging	Het
Gm4787	T	A	12: 81,377,905	H493L	probably benign	Het
Gpatch3	G	T	4: 133,582,997	V418L	probably damaging	Het
Greb1	T	C	12: 16,716,669	N376S	probably damaging	Het
Hspg2	A	G	4: 137,550,932	Q3010R	probably benign	Het
Ice2	T	A	9: 69,410,785	F223I	possibly damaging	Het
March11	A	G	15: 26,409,237	T341A	probably damaging	Het
Mllt10	A	G	2: 18,206,084	K770E	probably damaging	Het
Mug1	A	G	6: 121,861,169	T453A	probably benign	Het
Myh15	C	T	16: 49,155,646	T1359I	probably benign	Het
Nlrp4a	T	C	7: 26,464,146	F913L	probably benign	Het
Nlrx1	G	T	9: 44,264,789	A48D	probably damaging	Het
Noc3l	C	G	19: 38,795,003	G643A	possibly damaging	Het
Olfr1307	T	C	2: 111,944,530	R309G	probably benign	Het
Olfr895	T	A	9: 38,269,048	N170K	probably benign	Het
Pde6b	G	T	5: 108,419,773		probably null	Het
Phactr1	A	G	13: 43,077,729	I247V	unknown	Het
Pid1	G	T	1: 84,116,024	Q48K	probably benign	Het
Ppfia2	A	G	10: 106,863,372	N794S	probably benign	Het
Ppox	G	A	1: 171,279,972	S123L	possibly damaging	Het
Ptprd	A	C	4: 76,095,535	D778E	probably benign	Het
Rgs13	A	G	1: 144,140,862	Y48H	probably damaging	Het
Rgs17	T	A	10: 5,833,078	M190L	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Scaf8	C	T	17: 3,197,207	P935L	probably damaging	Het
Slc17a2	A	G	13: 23,812,665	H51R	probably benign	Het
Slc22a6	T	C	19: 8,623,889	I435T	probably benign	Het
Snx4	T	C	16: 33,291,829	L378P	probably damaging	Het
Spns1	A	G	7: 126,374,054	L155P	probably damaging	Het
St8sia4	T	C	1: 95,653,595	T141A	possibly damaging	Het
Syt10	A	T	15: 89,782,617	S510R	probably damaging	Het
Tmprss11d	A	T	5: 86,309,490	F241L	probably benign	Het
Tnfrsf21	A	T	17: 43,037,925	T143S	probably benign	Het
Trim72	A	G	7: 128,010,319	N431S	probably benign	Het
Usp43	A	G	11: 67,855,789	S1031P	probably damaging	Het
Wdr75	A	G	1: 45,819,639	Y656C	probably benign	Het
Zfp28	T	C	7: 6,393,786	C407R	probably damaging	Het
Zfp804b	C	T	5: 6,771,866	R399Q	possibly damaging	Het
Zfp949	T	A	9: 88,569,270	C298S	probably 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
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
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'- GCATCTTCAGCACTAGGTGG -3'
(R):5'- GGTGTCGCGTGATTTCTCCTAAC -3'

Sequencing Primer
(F):5'- AGCACTAGGTGGCGCCC -3'
(R):5'- AGCTTCCGTGTCCAGTCAG -3'

Posted On

2020-09-15