Mutagenetix > Incidental Mutation

Incidental Mutation 'R1563:Nbn'

170735

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

039602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15981668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 587 (I587F)

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: I587F

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: I587F

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

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,719,534	Y707C	probably damaging	Het
4930519G04Rik	T	C	5: 114,863,508	M22T	probably benign	Het
A930018M24Rik	A	G	14: 50,897,119	L22P	probably damaging	Het
Aipl1	A	T	11: 72,036,712	M59K	probably damaging	Het
Atg2b	T	C	12: 105,623,488	I1835V	probably damaging	Het
Cacna1i	T	C	15: 80,321,188	V115A	probably damaging	Het
Cacna1i	A	T	15: 80,389,855		probably benign	Het
Catsperb	T	A	12: 101,588,102	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,767	Y361*	probably null	Het
Clcn4	C	T	7: 7,293,982	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,285,737	V924M	probably damaging	Het
Cpxm2	T	C	7: 132,143,682	E138G	probably benign	Het
Dennd1a	T	C	2: 37,858,429	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,635,664	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,599,137	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,059,231	L954P	probably damaging	Het
Eral1	A	T	11: 78,075,406	D315E	probably benign	Het
Fam129a	A	T	1: 151,715,673	Y522F	possibly damaging	Het
Fbln2	G	T	6: 91,263,383	E724*	probably null	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Fzd3	T	A	14: 65,235,724	E198D	probably damaging	Het
Fzd9	T	C	5: 135,250,554	N159S	probably damaging	Het
Galnt6	T	A	15: 100,703,378	Q340L	probably benign	Het
Gm20939	C	T	17: 94,877,094	A390V	probably damaging	Het
Gm5435	T	G	12: 82,495,690		noncoding transcript	Het
Gm9949	A	C	18: 62,184,018		probably benign	Het
Gprc5b	G	A	7: 118,983,761	T295I	probably benign	Het
Gria2	G	T	3: 80,691,397	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Haao	T	C	17: 83,834,889	T174A	probably benign	Het
Hes6	A	T	1: 91,413,136	M1K	probably null	Het
Hook3	G	T	8: 26,110,752	Q43K	probably benign	Het
Klhl35	T	C	7: 99,471,695	V390A	probably damaging	Het
Myh9	G	T	15: 77,771,857	T1151K	probably damaging	Het
Nek4	A	G	14: 30,982,451	D696G	probably damaging	Het
Nlrp2	T	C	7: 5,308,725	D52G	probably damaging	Het
Oit3	G	T	10: 59,428,074	R413S	probably damaging	Het
Olfr1298	T	A	2: 111,645,682	H105L	probably damaging	Het
Olfr786	A	G	10: 129,437,711	M300V	probably benign	Het
Otof	T	C	5: 30,371,005	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939		probably null	Het
Pitrm1	T	C	13: 6,563,470	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,595,282	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,096,809	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,840,982	E157G	probably damaging	Het
Psmd3	C	T	11: 98,694,225	R466W	probably damaging	Het
Ptgfrn	A	G	3: 101,060,651	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,245,202	M393L	possibly damaging	Het
Qpct	T	A	17: 79,064,063	S87T	probably benign	Het
Qtrt1	T	A	9: 21,419,311	V269D	probably benign	Het
Rassf9	C	G	10: 102,544,960	R68G	probably damaging	Het
Rif1	A	G	2: 52,073,223	E25G	probably damaging	Het
Rnf213	T	C	11: 119,414,526	F528L	probably benign	Het
Sgip1	T	C	4: 102,966,260	S693P	probably benign	Het
She	A	G	3: 89,854,614	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,341,161	V54L	probably benign	Het
Slc8a3	T	A	12: 81,205,007	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,882,513	E601D	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,661,278	S425P	probably damaging	Het
Tbck	T	C	3: 132,715,693	V187A	possibly damaging	Het
Tcf23	A	T	5: 30,968,831	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,584,944	S16G	probably damaging	Het
Tekt2	T	A	4: 126,323,407	M233L	probably benign	Het
Tex14	T	C	11: 87,536,808	S29P	probably damaging	Het
Tjp2	T	A	19: 24,132,703	N59I	probably damaging	Het
Tlr5	G	A	1: 182,975,010	M626I	probably benign	Het
Tnn	A	T	1: 160,125,415	V685D	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trhr	G	A	15: 44,197,101	V6I	probably benign	Het
Trim30c	C	T	7: 104,382,951	R301Q	probably benign	Het
Usp51	T	C	X: 153,007,992	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,904,126	S569P	probably benign	Het
Vps26a	T	G	10: 62,464,680	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zcchc14	T	C	8: 121,603,979	M882V	probably benign	Het
Zfhx2	A	G	14: 55,065,088	V1813A	probably benign	Het
Zswim2	C	T	2: 83,915,282	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,848,733	Q669*	probably null	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
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
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'- AGCATCAGTCTCAGAATGCGACCC -3'
(R):5'- AGGCAGAGCAAGGACTTCTGTGAC -3'

Sequencing Primer
(F):5'- TCAGAATGCGACCCTGGAC -3'
(R):5'- catgacgtgaaggcaaagg -3'

Posted On

2014-04-13