Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00921:Nbn'

27240

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 #

IGL00921

Quality Score

Status

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15963833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029879
AA Change: V78A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: V78A

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: V78A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: V78A

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,888 (GRCm39)	I1530T	probably damaging	Het
Actb	T	C	5: 142,890,191 (GRCm39)	E237G	probably damaging	Het
Atrnl1	A	G	19: 57,690,585 (GRCm39)	E931G	probably damaging	Het
Cenpc1	T	C	5: 86,185,387 (GRCm39)	T375A	probably benign	Het
D1Pas1	A	G	1: 186,700,983 (GRCm39)	D304G	probably benign	Het
Ddx49	G	A	8: 70,747,406 (GRCm39)	Q345*	probably null	Het
Dnttip2	A	T	3: 122,068,939 (GRCm39)	K51N	probably benign	Het
Fxr2	A	G	11: 69,543,066 (GRCm39)	E621G	probably damaging	Het
Grhpr	A	G	4: 44,988,991 (GRCm39)	D216G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hook2	T	C	8: 85,729,126 (GRCm39)		probably benign	Het
Hspbp1	A	G	7: 4,667,750 (GRCm39)	S248P	probably damaging	Het
Kat6a	C	T	8: 23,430,279 (GRCm39)	P1878L	unknown	Het
Klrg1	A	T	6: 122,259,711 (GRCm39)	D20E	probably benign	Het
Layn	G	A	9: 50,968,708 (GRCm39)	T345I	probably damaging	Het
Mpi	G	A	9: 57,459,549 (GRCm39)	L9F	probably damaging	Het
Pkdrej	A	G	15: 85,701,427 (GRCm39)	I1503T	probably damaging	Het
Pou2f2	C	A	7: 24,792,125 (GRCm39)	E577*	probably null	Het
Prim2	G	T	1: 33,551,241 (GRCm39)	H292Q	probably damaging	Het
Tg	A	G	15: 66,636,302 (GRCm39)	N630D	probably benign	Het
Trim80	A	G	11: 115,338,490 (GRCm39)	N440S	probably benign	Het
Ttn	T	C	2: 76,766,746 (GRCm39)	S3111G	probably damaging	Het
Ubash3a	A	G	17: 31,447,160 (GRCm39)	T339A	probably benign	Het
Zbtb21	A	C	16: 97,753,222 (GRCm39)	S354A	probably damaging	Het
Zfp335	T	C	2: 164,736,696 (GRCm39)	T980A	possibly damaging	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15,964,320 (GRCm39)	missense	probably benign	0.01
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

2013-04-17