Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Nbn'

37952

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15979353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 446 (W446L)

Ref Sequence

ENSEMBL: ENSMUSP00000120829 (fasta)

Gene Model

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

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: W446L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: W446L

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: W446L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: W446L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,568,723 (GRCm38)	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391 (GRCm38)		probably benign	Het
Ago1	T	A	4: 126,463,706 (GRCm38)	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693 (GRCm38)	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131 (GRCm38)	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,884,622 (GRCm38)	G204D	probably damaging	Het
Bace2	T	A	16: 97,436,773 (GRCm38)		probably null	Het
Bltp2	T	A	11: 78,286,491 (GRCm38)		probably null	Het
Camk4	G	A	18: 33,179,625 (GRCm38)		probably null	Het
Cdh26	C	T	2: 178,481,632 (GRCm38)	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214 (GRCm38)	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635 (GRCm38)	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382 (GRCm38)	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898 (GRCm38)	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168 (GRCm38)	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184 (GRCm38)		probably null	Het
Cstf1	A	G	2: 172,377,710 (GRCm38)	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615 (GRCm38)	N68K	probably benign	Het
Dnaaf10	T	C	11: 17,229,851 (GRCm38)	L284P	probably damaging	Het
Duox2	C	T	2: 122,291,860 (GRCm38)	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725 (GRCm38)	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171 (GRCm38)	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471 (GRCm38)	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128 (GRCm38)	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637 (GRCm38)	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178 (GRCm38)		probably benign	Het
Fbxl6	A	G	15: 76,537,191 (GRCm38)	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,793 (GRCm38)	K423E	probably damaging	Het
Filip1	T	A	9: 79,819,462 (GRCm38)	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378 (GRCm38)	Y283*	probably null	Het
Gigyf2	T	A	1: 87,379,015 (GRCm38)	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,716,014 (GRCm38)		probably null	Het
Golga5	T	C	12: 102,476,188 (GRCm38)	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605 (GRCm38)	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632 (GRCm38)	S335*	probably null	Het
Itga1	A	T	13: 115,006,897 (GRCm38)		probably benign	Het
Itgb1	T	C	8: 128,717,685 (GRCm38)		probably benign	Het
Itpr1	G	A	6: 108,473,589 (GRCm38)	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,746,932 (GRCm38)	G633E	probably benign	Het
Kprp	C	T	3: 92,825,411 (GRCm38)	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721 (GRCm38)	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001 (GRCm38)	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698 (GRCm38)	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541 (GRCm38)	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773 (GRCm38)	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836 (GRCm38)	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047 (GRCm38)		probably null	Het
Mical3	A	T	6: 120,957,722 (GRCm38)	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132 (GRCm38)	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708 (GRCm38)	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813 (GRCm38)	S323T	probably damaging	Het
Nedd1	A	T	10: 92,716,265 (GRCm38)		probably benign	Het
Ngef	C	A	1: 87,487,962 (GRCm38)		probably benign	Het
Nup153	A	T	13: 46,693,936 (GRCm38)	N672K	probably benign	Het
Or10d1b	T	A	9: 39,702,173 (GRCm38)	I199F	probably damaging	Het
Or2z8	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Or4e2	T	C	14: 52,450,512 (GRCm38)	V33A	probably benign	Het
Or4f57	T	C	2: 111,961,016 (GRCm38)	N19S	probably benign	Het
Pakap	T	G	4: 57,710,177 (GRCm38)	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460 (GRCm38)		probably benign	Het
Pmfbp1	G	A	8: 109,541,673 (GRCm38)	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891 (GRCm38)	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Ptpdc1	A	T	13: 48,585,980 (GRCm38)	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225 (GRCm38)	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877 (GRCm38)	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073 (GRCm38)	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422 (GRCm38)	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833 (GRCm38)	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152 (GRCm38)	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632 (GRCm38)	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032 (GRCm38)	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553 (GRCm38)		probably benign	Het
Tacc2	T	C	7: 130,751,825 (GRCm38)		probably benign	Het
Tas2r140	A	G	6: 133,055,327 (GRCm38)	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164 (GRCm38)	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888 (GRCm38)	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037 (GRCm38)	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963 (GRCm38)	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048 (GRCm38)	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743 (GRCm38)	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806 (GRCm38)	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904 (GRCm38)	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891 (GRCm38)	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126 (GRCm38)	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408 (GRCm38)	D290E	probably damaging	Het
Wwc2	G	A	8: 47,900,721 (GRCm38)	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523 (GRCm38)	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572 (GRCm38)	C359S	probably benign	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15,964,320 (GRCm38)	missense	probably benign	0.01
IGL00921:Nbn	APN	4	15,963,833 (GRCm38)	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15,965,221 (GRCm38)	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15,986,613 (GRCm38)	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15,962,362 (GRCm38)	missense	probably damaging	1.00
nebish	UTSW	4	15,965,132 (GRCm38)	critical splice acceptor site	probably null
zenobia	UTSW	4	15,969,391 (GRCm38)	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15,986,672 (GRCm38)	splice site	probably benign
R0432:Nbn	UTSW	4	15,983,951 (GRCm38)	unclassified	probably benign
R0946:Nbn	UTSW	4	15,970,719 (GRCm38)	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15,970,719 (GRCm38)	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15,981,668 (GRCm38)	missense	possibly damaging	0.77
R1579:Nbn	UTSW	4	15,964,289 (GRCm38)	missense	probably damaging	0.99
R1660:Nbn	UTSW	4	15,971,771 (GRCm38)	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15,970,903 (GRCm38)	missense	probably benign	0.13
R2005:Nbn	UTSW	4	15,979,351 (GRCm38)	missense	probably benign	0.01
R2010:Nbn	UTSW	4	15,969,393 (GRCm38)	missense	probably damaging	1.00
R2077:Nbn	UTSW	4	15,979,389 (GRCm38)	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15,970,904 (GRCm38)	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15,970,904 (GRCm38)	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15,970,863 (GRCm38)	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15,963,810 (GRCm38)	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15,963,810 (GRCm38)	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15,962,387 (GRCm38)	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15,976,163 (GRCm38)	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15,964,269 (GRCm38)	missense	probably damaging	0.98
R4756:Nbn	UTSW	4	15,981,470 (GRCm38)	missense	probably benign	0.00
R5042:Nbn	UTSW	4	15,981,446 (GRCm38)	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15,965,132 (GRCm38)	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15,963,893 (GRCm38)	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15,969,391 (GRCm38)	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15,986,593 (GRCm38)	missense	probably benign
R6025:Nbn	UTSW	4	15,981,347 (GRCm38)	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15,979,327 (GRCm38)	missense	probably benign
R6543:Nbn	UTSW	4	15,986,605 (GRCm38)	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15,981,696 (GRCm38)	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15,970,863 (GRCm38)	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15,981,350 (GRCm38)	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15,983,677 (GRCm38)	splice site	probably null
R7241:Nbn	UTSW	4	15,991,190 (GRCm38)	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15,979,320 (GRCm38)	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15,963,911 (GRCm38)	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15,958,080 (GRCm38)	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15,981,588 (GRCm38)	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15,970,893 (GRCm38)	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15,981,470 (GRCm38)	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15,963,911 (GRCm38)	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15,963,911 (GRCm38)	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15,981,555 (GRCm38)	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15,970,833 (GRCm38)	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15,986,585 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGTAAAGATCCCTGGACTGGAACAA -3'
(R):5'- acaacaacaaAAAACAAACCTGAGATGGAA -3'

Sequencing Primer
(F):5'- CCTGGACTGGAACAAAGCTC -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2013-05-23