Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00833:Nbn'

12278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15964320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 132 (I132V)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: I132V

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

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: I132V

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: I132V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: I132V

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,108,006 (GRCm39)	E350G	probably damaging	Het
Apob	T	C	12: 8,060,101 (GRCm39)	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,106,195 (GRCm39)	Q358*	probably null	Het
Cbfa2t2	T	A	2: 154,370,795 (GRCm39)	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,902,800 (GRCm39)	M102R	probably benign	Het
Ddx42	T	A	11: 106,122,004 (GRCm39)	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,143,315 (GRCm39)	F443L	probably damaging	Het
Exoc4	G	A	6: 33,948,859 (GRCm39)	E901K	probably damaging	Het
Gp5	T	C	16: 30,128,284 (GRCm39)	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,497,933 (GRCm39)	S327R	probably benign	Het
Myo1e	T	C	9: 70,246,060 (GRCm39)	I417T	probably damaging	Het
Nasp	A	G	4: 116,459,933 (GRCm39)	V377A	probably damaging	Het
Nckap5	C	A	1: 125,954,889 (GRCm39)	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,039,896 (GRCm39)	V740I	probably benign	Het
Polr3gl	T	G	3: 96,485,876 (GRCm39)	D130A	probably damaging	Het
Ptprc	T	C	1: 138,006,230 (GRCm39)	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,783,617 (GRCm39)		probably null	Het
Tg	C	T	15: 66,560,650 (GRCm39)	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,127,194 (GRCm39)	I255N	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Zeb1	A	G	18: 5,767,774 (GRCm39)	T762A	probably benign	Het
Zfp345	T	C	2: 150,314,649 (GRCm39)	E296G	probably damaging	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Nbn	APN	4	15,963,833 (GRCm39)	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15,965,221 (GRCm39)	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15,986,613 (GRCm39)	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15,962,362 (GRCm39)	missense	probably damaging	1.00
nebish	UTSW	4	15,965,132 (GRCm39)	critical splice acceptor site	probably null
zenobia	UTSW	4	15,969,391 (GRCm39)	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15,986,672 (GRCm39)	splice site	probably benign
R0244:Nbn	UTSW	4	15,979,353 (GRCm39)	missense	probably benign	0.00
R0432:Nbn	UTSW	4	15,983,951 (GRCm39)	unclassified	probably benign
R0946:Nbn	UTSW	4	15,970,719 (GRCm39)	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15,970,719 (GRCm39)	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15,981,668 (GRCm39)	missense	possibly damaging	0.77
R1579:Nbn	UTSW	4	15,964,289 (GRCm39)	missense	probably damaging	0.99
R1660:Nbn	UTSW	4	15,971,771 (GRCm39)	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15,970,903 (GRCm39)	missense	probably benign	0.13
R2005:Nbn	UTSW	4	15,979,351 (GRCm39)	missense	probably benign	0.01
R2010:Nbn	UTSW	4	15,969,393 (GRCm39)	missense	probably damaging	1.00
R2077:Nbn	UTSW	4	15,979,389 (GRCm39)	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15,970,904 (GRCm39)	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15,970,904 (GRCm39)	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15,970,863 (GRCm39)	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15,963,810 (GRCm39)	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15,963,810 (GRCm39)	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15,962,387 (GRCm39)	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15,976,163 (GRCm39)	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15,964,269 (GRCm39)	missense	probably damaging	0.98
R4756:Nbn	UTSW	4	15,981,470 (GRCm39)	missense	probably benign	0.00
R5042:Nbn	UTSW	4	15,981,446 (GRCm39)	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15,965,132 (GRCm39)	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15,963,893 (GRCm39)	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15,969,391 (GRCm39)	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15,986,593 (GRCm39)	missense	probably benign
R6025:Nbn	UTSW	4	15,981,347 (GRCm39)	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15,979,327 (GRCm39)	missense	probably benign
R6543:Nbn	UTSW	4	15,986,605 (GRCm39)	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15,981,696 (GRCm39)	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15,970,863 (GRCm39)	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15,981,350 (GRCm39)	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15,983,677 (GRCm39)	splice site	probably null
R7241:Nbn	UTSW	4	15,991,190 (GRCm39)	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15,979,320 (GRCm39)	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15,958,080 (GRCm39)	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15,981,588 (GRCm39)	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15,970,893 (GRCm39)	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15,981,470 (GRCm39)	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15,963,911 (GRCm39)	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15,981,555 (GRCm39)	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15,970,833 (GRCm39)	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15,986,585 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06