Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Nbn'

186910

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15970903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 295 (D295E)

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: D295E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: D295E

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

noncoding transcript
Transcript: ENSMUST00000118701

Predicted Effect

probably benign
Transcript: ENSMUST00000149069
AA Change: D295E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: D295E

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Comp	T	C	8: 70,826,250 (GRCm39)	L10P	possibly damaging	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Mtmr2	C	T	9: 13,714,797 (GRCm39)	T519I	probably damaging	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Notch3	C	T	17: 32,375,093 (GRCm39)	G407D	probably damaging	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp52	T	C	17: 21,782,084 (GRCm39)	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAATGTGCTCAGAACCCTCACTGC -3'
(R):5'- CAGATATTCCACTGCCTAGCATCGC -3'

Sequencing Primer
(F):5'- GCACAAGAAACTCAGCTCGG -3'
(R):5'- TGCCTAGCATCGCACATC -3'

Posted On

2014-05-09