Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Nbn'

683230

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

068807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8973 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15986585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 662 (V662A)

Ref Sequence

ENSEMBL: ENSMUSP00000029879 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably damaging
Transcript: ENSMUST00000029879
AA Change: V662A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: V662A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,886,959 (GRCm39)	I975N	probably benign	Het
Adcy8	A	G	15: 64,570,984 (GRCm39)	*1250Q	probably null	Het
Anapc1	A	T	2: 128,505,952 (GRCm39)	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,578,439 (GRCm39)		probably benign	Het
Ankub1	A	T	3: 57,572,932 (GRCm39)	S263R	possibly damaging	Het
Aoah	A	G	13: 21,024,325 (GRCm39)	I94V	probably benign	Het
Aox1	A	G	1: 58,329,113 (GRCm39)	D186G	probably benign	Het
Arap2	A	T	5: 62,855,668 (GRCm39)	C589*	probably null	Het
Armt1	T	C	10: 4,389,550 (GRCm39)	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,183,598 (GRCm39)	Y185F	probably benign	Het
Cacna2d4	A	G	6: 119,218,142 (GRCm39)	D159G	probably damaging	Het
Camta2	C	A	11: 70,561,184 (GRCm39)	R1184L	probably benign	Het
Ccdc192	T	G	18: 57,725,139 (GRCm39)	L123V	possibly damaging	Het
Ccr7	G	A	11: 99,036,649 (GRCm39)	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,131 (GRCm39)	T323A	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clec2e	C	A	6: 129,070,374 (GRCm39)	G216*	probably null	Het
Col25a1	T	C	3: 130,269,275 (GRCm39)	S176P	unknown	Het
Col4a3	A	C	1: 82,693,052 (GRCm39)	I1446L	probably benign	Het
Cplane1	T	C	15: 8,233,277 (GRCm39)	W1201R	probably damaging	Het
Cse1l	A	G	2: 166,785,000 (GRCm39)	E823G	probably damaging	Het
Cspg4b	A	G	13: 113,456,293 (GRCm39)	T780A		Het
Dchs2	A	G	3: 83,261,763 (GRCm39)	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,246,824 (GRCm39)	E77G	probably damaging	Het
Dnah6	T	C	6: 73,121,734 (GRCm39)	D1416G	probably benign	Het
Dpyd	T	C	3: 119,108,582 (GRCm39)		probably null	Het
Dst	A	G	1: 34,267,936 (GRCm39)	D3112G	probably damaging	Het
Dusp13b	A	C	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Emilin2	T	G	17: 71,582,079 (GRCm39)	K216Q	probably benign	Het
Enam	T	C	5: 88,641,947 (GRCm39)	W254R	possibly damaging	Het
Esrrg	A	C	1: 187,930,947 (GRCm39)	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,479,132 (GRCm39)	L373P		Het
Gm21060	C	A	19: 61,285,366 (GRCm39)	V48L	possibly damaging	Het
Gtpbp3	T	C	8: 71,943,806 (GRCm39)	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,367,699 (GRCm39)	D171G	probably damaging	Het
Hrg	A	T	16: 22,777,968 (GRCm39)	T242S	probably benign	Het
Inf2	G	T	12: 112,573,949 (GRCm39)	C751F	unknown	Het
Krt13	A	T	11: 100,010,264 (GRCm39)	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,303,293 (GRCm39)	S7P	probably benign	Het
Matn2	A	G	15: 34,433,196 (GRCm39)	I867V	probably benign	Het
Mdh2	C	T	5: 135,819,019 (GRCm39)	A325V	possibly damaging	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,750,307 (GRCm39)	R64*	probably null	Het
Nav1	T	C	1: 135,512,463 (GRCm39)	D199G	probably benign	Het
Nek10	G	A	14: 14,931,321 (GRCm38)		probably null	Het
Or14a257	A	G	7: 86,138,487 (GRCm39)	S91P	probably damaging	Het
Or5t18	C	A	2: 86,637,200 (GRCm39)	V48F	probably benign	Het
Or7g12	C	A	9: 18,899,974 (GRCm39)	S230*	probably null	Het
Or8b37	T	A	9: 37,958,839 (GRCm39)	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,838,940 (GRCm39)	S617R	probably benign	Het
Pde10a	C	A	17: 9,143,071 (GRCm39)	Q6K	probably benign	Het
Pigq	A	C	17: 26,151,141 (GRCm39)	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,449,833 (GRCm39)	D3865E	probably damaging	Het
Prag1	C	T	8: 36,566,744 (GRCm39)		probably benign	Het
Rbis	C	T	3: 14,672,305 (GRCm39)	V97I	probably benign	Het
Rint1	A	G	5: 24,016,728 (GRCm39)	T498A	probably benign	Het
Rnf213	T	A	11: 119,352,756 (GRCm39)	F3921I		Het
Rpp14	A	G	14: 8,088,768 (GRCm38)	S95G	probably benign	Het
Ryk	T	G	9: 102,739,120 (GRCm39)	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,865,397 (GRCm39)	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,860,402 (GRCm39)	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,943,202 (GRCm39)	I609K	probably damaging	Het
Slc44a4	T	C	17: 35,140,538 (GRCm39)	F244L	probably damaging	Het
Spata31e1	A	T	13: 49,941,715 (GRCm39)	D80E	probably benign	Het
Susd5	T	C	9: 113,911,572 (GRCm39)	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,925,654 (GRCm39)		probably null	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tektip1	T	C	10: 81,199,849 (GRCm39)	D129G	unknown	Het
Tmc1	A	T	19: 20,878,215 (GRCm39)	N93K	probably benign	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Tmem131l	A	T	3: 83,836,039 (GRCm39)	V690D	probably damaging	Het
Trim8	A	G	19: 46,503,903 (GRCm39)	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,577,919 (GRCm39)	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,452,150 (GRCm39)	N443K	possibly damaging	Het
Zan	T	A	5: 137,387,578 (GRCm39)	I4878F	unknown	Het
Zfand4	A	G	6: 116,291,041 (GRCm39)	D344G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGCCAGAAACAACTCTG -3'
(R):5'- CTGTTTGGCGCAGAAGAAATAG -3'

Sequencing Primer
(F):5'- AACAACTCTGTTTTCCCTTGGG -3'
(R):5'- CTCTGGCGACACAGTTAAT -3'

Posted On

2021-10-11